HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HECW1provided by HGNC
Official Full Name: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1provided by HGNC
Primary source: HGNC:HGNC:22195
See related: Ensembl:ENSG00000002746 MIM:610384; AllianceGenome:HGNC:22195
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEDL1
Summary: Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including cellular protein metabolic process; negative regulation of sodium ion transmembrane transporter activity; and regulation of dendrite morphogenesis. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney (RPKM 3.0), brain (RPKM 2.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.1-p13

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (43112647..43566001)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (43270827..43724047)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (43152246..43605600)

Chromosome 7 - NC_000007.14 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
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?

HECW1 induces NCOA4-regulated ferroptosis in glioma through the ubiquitination and degradation of ZNF350.
Title: HECW1 induces NCOA4-regulated ferroptosis in glioma through the ubiquitination and degradation of ZNF350.
Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.
Title: Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.
E3 ubiquitin ligase HECW1 promotes the metastasis of non-small cell lung cancer cells through mediating the ubiquitination of Smad4.
Title: E3 ubiquitin ligase HECW1 promotes the metastasis of non-small cell lung cancer cells through mediating the ubiquitination of Smad4.
Integrating HECW1 expression into the clinical indicators exhibits high accuracy in assessing the prognosis of patients with clear cell renal cell carcinoma.
Title: Integrating HECW1 expression into the clinical indicators exhibits high accuracy in assessing the prognosis of patients with clear cell renal cell carcinoma.
The ubiquitin E3 ligase HECW1 catalyzes TTF1 ubiquitination.
Title: The E3 ubiquitin ligase HECW1 targets thyroid transcription factor 1 (TTF1/NKX2.1) for its degradation in the ubiquitin-proteasome system.
Study reported for the first time that HECW1 mRNA levels were negatively correlated with Gd-IgA1 levels and pointed to a new regulatory mechanism of IgA nephropathy that can explain the aberrant glycosylation of IgA1.
Title: Changes E3 ubiquitin protein ligase 1 gene mRNA expression correlated with IgA1 glycosylation in patients with IgA nephropathy.
Ndel1 acts as a novel upstream regulator of the trichoplein-Aurora A pathway to inhibit primary cilia assembly.
Title: Ndel1 suppresses ciliogenesis in proliferating cells by regulating the trichoplein-Aurora A pathway.
Ndel1 regulates Dyn2 GTPase activity and impacts GluR1-containing membranes distribution in a manner reminiscent of Dyn2.
Title: The cytoskeletal protein Ndel1 regulates dynamin 2 GTPase activity.
These findings suggest that the human NEDL1 transgenic mice might develop Amyotrophic lateral sclerosis-like symptoms, showing signs of motor abnormalities, accompanied with significant reduction in muscle strength.
Title: Muscle atrophy and motor neuron degeneration in human NEDL1 transgenic mice.
These findings suggest that RNF43 is associated with p53-mediated apoptosis in collaboration with NEDL1 in colorectal carcinogenesis.
Title: RNF43 interacts with NEDL1 and regulates p53-mediated transcription.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. 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

D7S1767 (e-PCR)
- UniSTS:24328

GDB:1317410 (e-PCR)
- UniSTS:25609

L30017 (e-PCR)
- UniSTS:66083

GDB:1317404 (e-PCR)
- UniSTS:76592

RH92286 (e-PCR)
- UniSTS:84794

EST209747 (e-PCR)
- UniSTS:22074

MARC_17638-17639:1019144663:1 (e-PCR)
- UniSTS:268363

RH11865 (e-PCR)
- UniSTS:11349

G60312 (e-PCR)
- UniSTS:137568

MARC_8191-8192:996688382:1 (e-PCR)
- UniSTS:269922

G42172 (e-PCR)
- UniSTS:93301

G66798 (e-PCR)
- UniSTS:166780

D7S2428 (e-PCR), detects polymorphism
- UniSTS:50045

STS-R45677 (e-PCR)
- UniSTS:68750

D7S2318 (e-PCR)
- UniSTS:19615

D7S678 (e-PCR)
- UniSTS:71858

A006U39 (e-PCR)
- UniSTS:62912

GDB:1317398 (e-PCR)
- UniSTS:44227

SHGC-152797 (e-PCR)
- UniSTS:177606

D7S2428 (e-PCR), detects polymorphism
- UniSTS:36296

SHGC-143639 (e-PCR)
- UniSTS:171994

D7S678 (e-PCR)
- UniSTS:1249

D7S2342 (e-PCR)
- UniSTS:68581

SHGC-133067 (e-PCR)
- UniSTS:170998

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in negative regulation of canonical Wnt signaling pathway	TAS Traceable Author Statement more info
involved_in negative regulation of sodium ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase HECW1

Names: HECT type E3 ubiquitin ligase; HECT-type E3 ubiquitin transferase HECW1; NEDD4-like ubiquitin-protein ligase 1

NP_001273988.1

EC 2.3.2.26

NP_055867.3

EC 2.3.2.26

XP_006715733.1

EC 2.3.2.26

XP_006715734.1

EC 2.3.2.26

XP_006715736.1

EC 2.3.2.26

XP_011513522.1

EC 2.3.2.26

XP_011513524.1

EC 2.3.2.26

XP_011513525.1

EC 2.3.2.26

XP_011513526.1

EC 2.3.2.26

XP_011513527.2

EC 2.3.2.26

XP_011513528.1

EC 2.3.2.26

XP_016867371.1

EC 2.3.2.26

XP_016867372.1

EC 2.3.2.26

XP_016867373.1

EC 2.3.2.26

XP_016867376.1

EC 2.3.2.26

XP_016867377.1

EC 2.3.2.26

XP_047276020.1

EC 2.3.2.26

XP_047276021.1

EC 2.3.2.26

XP_047276022.1

EC 2.3.2.26

XP_054213618.1

EC 2.3.2.26

XP_054213619.1

EC 2.3.2.26

XP_054213620.1

EC 2.3.2.26

XP_054213621.1

EC 2.3.2.26

XP_054213622.1

EC 2.3.2.26

XP_054213623.1

EC 2.3.2.26

XP_054213624.1

EC 2.3.2.26

XP_054213625.1

EC 2.3.2.26

XP_054213626.1

EC 2.3.2.26

XP_054213627.1

EC 2.3.2.26

XP_054213628.1

EC 2.3.2.26

XP_054213629.1

EC 2.3.2.26

XP_054213630.1

EC 2.3.2.26

XP_054213631.1

EC 2.3.2.26

XP_054213632.1

EC 2.3.2.26

XP_054213633.1

EC 2.3.2.26

XP_054213634.1

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.

mRNA and Protein(s)

NM_001287059.2 → NP_001273988.1 E3 ubiquitin-protein ligase HECW1 isoform b

See identical proteins and their annotated locations for NP_001273988.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AC004692, AC011738, AK294918, BC151227

Consensus CDS

CCDS69286.1

UniProtKB/Swiss-Prot

Q76N89

Related

ENSP00000407774.1, ENST00000453890.5

Conserved Domains (6) summary

cd08691
Location:205 → 341

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:986 → 1017

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1240 → 1569

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1216 → 1570

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 ...

cd00201
Location:799 → 827

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

pfam16562
Location:65 → 184

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
NM_015052.5 → NP_055867.3 E3 ubiquitin-protein ligase HECW1 isoform a

See identical proteins and their annotated locations for NP_055867.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC011738, AK294918, BC151227

Consensus CDS

CCDS5469.2

UniProtKB/Swiss-Prot

A7E2X0, A8MYS3, B4DH42, O15036, Q76N89, Q9HCC7

Related

ENSP00000379228.1, ENST00000395891.7

Conserved Domains (5) summary

cd08691
Location:205 → 341

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:830 → 861

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1274 → 1603

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1250 → 1604

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 ...

pfam16562
Location:65 → 184

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

43112647..43566001

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017011883.3 → XP_016867372.1 E3 ubiquitin-protein ligase HECW1 isoform X1
XM_006715670.4 → XP_006715733.1 E3 ubiquitin-protein ligase HECW1 isoform X3

Conserved Domains (5) summary

cd08691
Location:206 → 342

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:832 → 863

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1276 → 1605

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1252 → 1606

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 ...

pfam16562
Location:66 → 185

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_006715671.4 → XP_006715734.1 E3 ubiquitin-protein ligase HECW1 isoform X4

Conserved Domains (5) summary

cd08691
Location:206 → 342

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:831 → 862

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1275 → 1604

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1251 → 1605

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 ...

pfam16562
Location:66 → 185

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_006715673.4 → XP_006715736.1 E3 ubiquitin-protein ligase HECW1 isoform X11

Conserved Domains (6) summary

cd08691
Location:206 → 342

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:987 → 1018

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1241 → 1570

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1217 → 1571

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 ...

cd00201
Location:800 → 828

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

pfam16562
Location:66 → 185

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_017011882.2 → XP_016867371.1 E3 ubiquitin-protein ligase HECW1 isoform X1
XM_017011887.2 → XP_016867376.1 E3 ubiquitin-protein ligase HECW1 isoform X7
XM_017011884.2 → XP_016867373.1 E3 ubiquitin-protein ligase HECW1 isoform X2

Conserved Domains (5) summary

cd08691
Location:237 → 373

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:862 → 893

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1306 → 1635

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1282 → 1636

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 ...

pfam16562
Location:97 → 216

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_017011888.2 → XP_016867377.1 E3 ubiquitin-protein ligase HECW1 isoform X8
XM_047420064.1 → XP_047276020.1 E3 ubiquitin-protein ligase HECW1 isoform X5
XM_011515220.3 → XP_011513522.1 E3 ubiquitin-protein ligase HECW1 isoform X5

See identical proteins and their annotated locations for XP_011513522.1

Conserved Domains (5) summary

cd08691
Location:205 → 341

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:831 → 862

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1275 → 1604

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1251 → 1605

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 ...

pfam16562
Location:65 → 184

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_047420065.1 → XP_047276021.1 E3 ubiquitin-protein ligase HECW1 isoform X6

UniProtKB/Swiss-Prot

A7E2X0, A8MYS3, B4DH42, O15036, Q76N89, Q9HCC7
XM_011515223.3 → XP_011513525.1 E3 ubiquitin-protein ligase HECW1 isoform X9

See identical proteins and their annotated locations for XP_011513525.1

Conserved Domains (5) summary

cd08691
Location:184 → 320

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:810 → 841

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1254 → 1583

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1230 → 1584

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 ...

pfam16562
Location:44 → 163

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_047420066.1 → XP_047276022.1 E3 ubiquitin-protein ligase HECW1 isoform X10

UniProtKB/TrEMBL

A4D1V5
XM_011515222.3 → XP_011513524.1 E3 ubiquitin-protein ligase HECW1 isoform X9

See identical proteins and their annotated locations for XP_011513524.1

Conserved Domains (5) summary

cd08691
Location:184 → 320

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:810 → 841

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1254 → 1583

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1230 → 1584

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 ...

pfam16562
Location:44 → 163

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_011515224.3 → XP_011513526.1 E3 ubiquitin-protein ligase HECW1 isoform X9

See identical proteins and their annotated locations for XP_011513526.1

Conserved Domains (5) summary

cd08691
Location:184 → 320

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:810 → 841

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1254 → 1583

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1230 → 1584

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 ...

pfam16562
Location:44 → 163

HECW_N; N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2
XM_011515225.2 → XP_011513527.2 E3 ubiquitin-protein ligase HECW1 isoform X12
XM_011515226.4 → XP_011513528.1 E3 ubiquitin-protein ligase HECW1 isoform X13

Conserved Domains (4) summary

cd08691
Location:35 → 171

C2_NEDL1-like; C2 domain present in NEDL1 (NEDD4-like ubiquitin protein ligase-1)

smart00456
Location:661 → 692

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:1105 → 1434

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:1081 → 1435

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 ...