UBE3A ubiquitin protein ligase E3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE3Aprovided by HGNC
Official Full Name: ubiquitin protein ligase E3Aprovided by HGNC
Primary source: HGNC:HGNC:12496
See related: Ensembl:ENSG00000114062 MIM:601623; AllianceGenome:HGNC:12496
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AS; ANCR; PIX1; E6-AP; HPVE6A; EPVE6AP
Summary: This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q11.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (25333728..25439056, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (23070379..23175682, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (25578875..25684203, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.
Title: Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Title: Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis.
Title: CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis.
LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP.
Title: LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP.
UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
Title: UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases.
Title: Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases.
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
Title: The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
Title: Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
Tumor Suppressor p53 Inhibits Hepatitis B Virus Replication by Downregulating HBx via E6AP-Mediated Proteasomal Degradation in Human Hepatocellular Carcinoma Cell Lines.
Title: Tumor Suppressor p53 Inhibits Hepatitis B Virus Replication by Downregulating HBx via E6AP-Mediated Proteasomal Degradation in Human Hepatocellular Carcinoma Cell Lines.
UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer.
Title: UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (182)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Angelman syndrome MedGen: C0162635 OMIM: 105830 GeneReviews: Angelman Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-08-23) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-08-23) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52105 (e-PCR)
- UniSTS:17922

D21S1734E (e-PCR)
- UniSTS:150787

D15S837 (e-PCR)
- UniSTS:8208

WI-11918 (e-PCR)
- UniSTS:8209

D15S698E (e-PCR)
- UniSTS:151605

RH78150 (e-PCR)
- UniSTS:68662

D15S701E (e-PCR)
- UniSTS:151608

G67875 (e-PCR)
- UniSTS:225595

WI-13724 (e-PCR)
- UniSTS:63806

RH45096 (e-PCR)
- UniSTS:347

RH17601 (e-PCR)
- UniSTS:77665

D15S122 (e-PCR)
- UniSTS:10111

Ube3a (e-PCR), detects polymorphism
- UniSTS:275877

Ube3a (e-PCR), detects polymorphism
- UniSTS:275878

RH79621 (e-PCR)
- UniSTS:86711

D15S122 (e-PCR)
- UniSTS:45255

RH102417 (e-PCR)
- UniSTS:96751

D15S10 (e-PCR)
- UniSTS:146928

UBE3A_1455 (e-PCR)
- UniSTS:281072

UBE3A_v484 (e-PCR)
- UniSTS:281072

RH11332 (e-PCR)
- UniSTS:56307

D21S1716E (e-PCR)
- UniSTS:150773

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in brain development	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to brain-derived neurotrophic factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in locomotory exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in motor learning	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TORC1 signaling	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of dendritic spine morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Golgi lumen acidification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in progesterone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in prostate gland growth	IEA Inferred from Electronic Annotation more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to progesterone	IDA Inferred from Direct Assay more info	PubMed
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info
involved_in sperm entry	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ubiquitin-protein ligase E3A

Names: CTCL tumor antigen se37-2; E6AP ubiquitin-protein ligase; HECT-type ubiquitin transferase E3A; human papilloma virus E6-associated protein; human papillomavirus E6-associated protein; oncogenic protein-associated protein E6-AP; renal carcinoma antigen NY-REN-54

NP_000453.2

EC 2.3.2.26

NP_001341434.1

EC 2.3.2.26

NP_001341435.1

EC 2.3.2.26

NP_001341436.1

EC 2.3.2.26

NP_001341437.1

EC 2.3.2.26

NP_001341438.1

EC 2.3.2.26

NP_001341440.1

EC 2.3.2.26

NP_001341441.1

EC 2.3.2.26

NP_001341442.1

EC 2.3.2.26

NP_001341452.1

EC 2.3.2.26

NP_001341455.1

EC 2.3.2.26

NP_001341467.1

EC 2.3.2.26

NP_001341468.1

EC 2.3.2.26

NP_001341469.1

EC 2.3.2.26

NP_001341470.1

EC 2.3.2.26

NP_001341471.1

EC 2.3.2.26

NP_001341472.1

EC 2.3.2.26

NP_001341473.1

EC 2.3.2.26

NP_001341474.1

EC 2.3.2.26

NP_001341475.1

EC 2.3.2.26

NP_001341476.1

EC 2.3.2.26

NP_001341477.1

EC 2.3.2.26

NP_001341478.1

EC 2.3.2.26

NP_001341479.1

EC 2.3.2.26

NP_001341480.1

EC 2.3.2.26

NP_001361390.1

EC 2.3.2.26

NP_570853.1

EC 2.3.2.26

NP_570854.1

EC 2.3.2.26

XP_011520297.1

EC 2.3.2.26

XP_016878036.1

EC 2.3.2.26

XP_016878037.1

EC 2.3.2.26

XP_016878039.1

EC 2.3.2.26

XP_024305811.1

EC 2.3.2.26

XP_047288963.1

EC 2.3.2.26

XP_047288964.1

EC 2.3.2.26

XP_047288965.1

EC 2.3.2.26

XP_047288966.1

EC 2.3.2.26

XP_047288967.1

EC 2.3.2.26

XP_047288968.1

EC 2.3.2.26

XP_047288969.1

EC 2.3.2.26

XP_047288970.1

EC 2.3.2.26

XP_047288971.1

EC 2.3.2.26

XP_047288972.1

EC 2.3.2.26

XP_047288973.1

EC 2.3.2.26

XP_047288974.1

EC 2.3.2.26

XP_047288975.1

EC 2.3.2.26

XP_047288976.1

EC 2.3.2.26

XP_047288977.1

EC 2.3.2.26

XP_054234720.1

EC 2.3.2.26

XP_054234721.1

EC 2.3.2.26

XP_054234722.1

EC 2.3.2.26

XP_054234723.1

EC 2.3.2.26

XP_054234724.1

EC 2.3.2.26

XP_054234725.1

EC 2.3.2.26

XP_054234726.1

EC 2.3.2.26

XP_054234727.1

EC 2.3.2.26

XP_054234728.1

EC 2.3.2.26

XP_054234729.1

EC 2.3.2.26

XP_054234730.1

EC 2.3.2.26

XP_054234731.1

EC 2.3.2.26

XP_054234732.1

EC 2.3.2.26

XP_054234733.1

EC 2.3.2.26

XP_054234734.1

EC 2.3.2.26

XP_054234735.1

EC 2.3.2.26

XP_054234736.1

EC 2.3.2.26

XP_054234737.1

EC 2.3.2.26

XP_054234738.1

EC 2.3.2.26

XP_054234739.1

EC 2.3.2.26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009268.1 RefSeqGene

Range

38476..106733

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_15

mRNA and Protein(s)

NM_000462.5 → NP_000453.2 ubiquitin-protein ligase E3A isoform 2

See identical proteins and their annotated locations for NP_000453.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longest isoform (2).

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS45192.1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

UniProtKB/TrEMBL

Q9BUI6

Related

ENSP00000497594.1, ENST00000650110.1

Conserved Domains (2) summary

cd00078
Location:523 → 873

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:29 → 83

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354505.1 → NP_001341434.1 ubiquitin-protein ligase E3A isoform 3

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS45191.1

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:520 → 870

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354506.2 → NP_001341435.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000401265.2, ENST00000428984.6

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354507.2 → NP_001341436.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354508.2 → NP_001341437.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000486349.1, ENST00000630424.2

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354509.2 → NP_001341438.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, DA807801, U84404

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000457771.1, ENST00000566215.5

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354511.2 → NP_001341440.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354512.2 → NP_001341441.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354513.2 → NP_001341442.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354523.2 → NP_001341452.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS86436.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000490111.1, ENST00000638011.1

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354526.1 → NP_001341455.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354538.2 → NP_001341467.1 ubiquitin-protein ligase E3A isoform 3

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS45191.1

UniProtKB/TrEMBL

Q9BUI6

Related

ENSP00000490258.1, ENST00000637886.1

Conserved Domains (2) summary

cd00078
Location:520 → 870

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354539.2 → NP_001341468.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354540.2 → NP_001341469.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354541.2 → NP_001341470.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354542.2 → NP_001341471.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354543.2 → NP_001341472.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000490557.1, ENST00000638155.1

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354544.2 → NP_001341473.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000411258.1, ENST00000438097.6

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354545.2 → NP_001341474.1 ubiquitin-protein ligase E3A isoform 4

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:520 → 818

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354546.2 → NP_001341475.1 ubiquitin-protein ligase E3A isoform 5

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS91966.1

UniProtKB/TrEMBL

A0A6Q8PHE5, Q5W7F7

Related

ENSP00000502703.1, ENST00000675177.1

Conserved Domains (1) summary

cd00078
Location:461 → 811

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
NM_001354547.2 → NP_001341476.1 ubiquitin-protein ligase E3A isoform 6

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

UniProtKB/TrEMBL

Q5W7F7

Conserved Domains (2) summary

cd00078
Location:500 → 798

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354548.2 → NP_001341477.1 ubiquitin-protein ligase E3A isoform 6

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

UniProtKB/TrEMBL

Q5W7F7

Conserved Domains (2) summary

cd00078
Location:500 → 798

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354549.2 → NP_001341478.1 ubiquitin-protein ligase E3A isoform 7

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

UniProtKB/TrEMBL

Q5W7F7

Conserved Domains (2) summary

cd00078
Location:500 → 795

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354550.2 → NP_001341479.1 ubiquitin-protein ligase E3A isoform 8

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Conserved Domains (2) summary

cd00078
Location:121 → 453

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001354551.2 → NP_001341480.1 ubiquitin-protein ligase E3A isoform 9

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Conserved Domains (2) summary

cd00078
Location:101 → 433

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_001374461.1 → NP_001361390.1 ubiquitin-protein ligase E3A isoform 1

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_130838.4 → NP_570853.1 ubiquitin-protein ligase E3A isoform 1

See identical proteins and their annotated locations for NP_570853.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses a downstream in-frame start codon, as compared to variant 2. The encoded isoform (1) is shorter than isoform 2.

Source sequence(s)

AC100774, AC124997

Consensus CDS

CCDS32177.1

UniProtKB/TrEMBL

Q5W7F7, Q9H2G0

Related

ENSP00000497549.1, ENST00000649550.1

Conserved Domains (2) summary

cd00078
Location:500 → 850

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:6 → 60

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
NM_130839.5 → NP_570854.1 ubiquitin-protein ligase E3A isoform 3

See identical proteins and their annotated locations for NP_570854.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate start codon compared to variant 2. The encoded isoform (3) has a distinct N-terminus and is 3 and is shorter than isoform 2.

Source sequence(s)

AC100774, AC124997, AK292514, BC002582

Consensus CDS

CCDS45191.1

UniProtKB/TrEMBL

Q9BUI6

Related

ENSP00000497572.2, ENST00000648336.2

Conserved Domains (2) summary

cd00078
Location:520 → 870

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

RNA

NR_148916.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC100774, AC124997

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

25333728..25439056 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022548.3 → XP_016878037.1 ubiquitin-protein ligase E3A isoform X2

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:520 → 870

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
XM_017022547.3 → XP_016878036.1 ubiquitin-protein ligase E3A isoform X2

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:520 → 870

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
XM_047433008.1 → XP_047288964.1 ubiquitin-protein ligase E3A isoform X1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
XM_011521995.4 → XP_011520297.1 ubiquitin-protein ligase E3A isoform X1

See identical proteins and their annotated locations for XP_011520297.1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:523 → 873

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:29 → 83

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
XM_047433015.1 → XP_047288971.1 ubiquitin-protein ligase E3A isoform X2
XM_017022550.3 → XP_016878039.1 ubiquitin-protein ligase E3A isoform X2

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:520 → 870

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:26 → 80

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
XM_047433009.1 → XP_047288965.1 ubiquitin-protein ligase E3A isoform X1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
XM_047433019.1 → XP_047288975.1 ubiquitin-protein ligase E3A isoform X3

UniProtKB/TrEMBL

Q9H2G0
XM_047433021.1 → XP_047288977.1 ubiquitin-protein ligase E3A isoform X5
XM_047433010.1 → XP_047288966.1 ubiquitin-protein ligase E3A isoform X1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
XM_047433014.1 → XP_047288970.1 ubiquitin-protein ligase E3A isoform X2
XM_047433012.1 → XP_047288968.1 ubiquitin-protein ligase E3A isoform X2
XM_047433013.1 → XP_047288969.1 ubiquitin-protein ligase E3A isoform X2
XM_024450043.2 → XP_024305811.1 ubiquitin-protein ligase E3A isoform X1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

UniProtKB/TrEMBL

Q9BUI6

Conserved Domains (2) summary

cd00078
Location:523 → 873

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam16558
Location:29 → 83

AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A
XM_047433018.1 → XP_047288974.1 ubiquitin-protein ligase E3A isoform X3

UniProtKB/TrEMBL

Q9H2G0
XM_047433011.1 → XP_047288967.1 ubiquitin-protein ligase E3A isoform X2
XM_047433017.1 → XP_047288973.1 ubiquitin-protein ligase E3A isoform X3

UniProtKB/TrEMBL

Q9H2G0
XM_047433020.1 → XP_047288976.1 ubiquitin-protein ligase E3A isoform X4
XM_047433007.1 → XP_047288963.1 ubiquitin-protein ligase E3A isoform X1

UniProtKB/Swiss-Prot

A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
XM_047433016.1 → XP_047288972.1 ubiquitin-protein ligase E3A isoform X3

UniProtKB/TrEMBL

Q9H2G0