CHD1L chromodomain helicase DNA binding protein 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHD1Lprovided by HGNC
Official Full Name: chromodomain helicase DNA binding protein 1 likeprovided by HGNC
Primary source: HGNC:HGNC:1916
See related: Ensembl:ENSG00000131778 MIM:613039; AllianceGenome:HGNC:1916
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: ALC1; CHDL
Summary: This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
Expression: Ubiquitous expression in testis (RPKM 13.4), bone marrow (RPKM 10.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.1

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (147172747..147295762)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (147512572..147635662, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (146644326..146767443)

Chromosome 1 - NC_000001.11 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?

Identification and functional characteristics of CHD1L gene variants implicated in human Mullerian duct anomalies.
Title: Identification and functional characteristics of CHD1L gene variants implicated in human Müllerian duct anomalies.
Host genetic variation at a locus near CHD1L impacts HIV sequence diversity in a South African population.
Title: Host genetic variation at a locus near CHD1L impacts HIV sequence diversity in a South African population.
The chromatin remodeler ALC1 underlies resistance to PARP inhibitor treatment.
Title: The chromatin remodeler ALC1 underlies resistance to PARP inhibitor treatment.
Chromodomain Helicase DNA Binding Protein 1-like, a negative regulator of Forkhead box O3a, promotes the proliferation and migration of Angiotensin II-induced vascular smooth muscle cells.
Title: Chromodomain Helicase DNA Binding Protein 1-like, a negative regulator of Forkhead box O3a, promotes the proliferation and migration of Angiotensin II-induced vascular smooth muscle cells.
Genome-wide scanning for CHD1L gene in papillary thyroid carcinoma complicated with type 2 diabetes mellitus.
Title: Genome-wide scanning for CHD1L gene in papillary thyroid carcinoma complicated with type 2 diabetes mellitus.
CHD1L prevents lipopolysaccharide-induced hepatocellular carcinomar cell death by activating hnRNP A2/B1-nmMYLK axis.
Title: CHD1L prevents lipopolysaccharide-induced hepatocellular carcinomar cell death by activating hnRNP A2/B1-nmMYLK axis.
CHD1L augments autophagy-mediated migration of hepatocellular carcinoma through targeting ZKSCAN3.
Title: CHD1L augments autophagy-mediated migration of hepatocellular carcinoma through targeting ZKSCAN3.
Serine ADP-ribosylation marks nucleosomes for ALC1-dependent chromatin remodeling.
Title: Serine ADP-ribosylation marks nucleosomes for ALC1-dependent chromatin remodeling.
Multiple roles for PARP1 in ALC1-dependent nucleosome remodeling.
Title: Multiple roles for PARP1 in ALC1-dependent nucleosome remodeling.
Mechanistic Insights into Regulation of the ALC1 Remodeler by the Nucleosome Acidic Patch.
Title: Mechanistic Insights into Regulation of the ALC1 Remodeler by the Nucleosome Acidic Patch.

Submit: New GeneRIF Correction See all GeneRIFs (51)

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

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2018-08-30) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2018-08-30) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. 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

WI-11526 (e-PCR)
- UniSTS:46137

RH25735 (e-PCR)
- UniSTS:83783

WI-11405 (e-PCR)
- UniSTS:42375

AL034067 (e-PCR)
- UniSTS:93839

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP-dependent chromatin remodeler activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA helicase activity	TAS Traceable Author Statement more info	PubMed
enables histone reader activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleosome binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables poly-ADP-D-ribose modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
is_active_in site of DNA damage	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chromodomain-helicase-DNA-binding protein 1-like

Names: amplified in liver cancer 1; amplified in liver cancer protein 1

NP_001243265.1

EC 3.6.4.12

NP_001243266.1

EC 3.6.4.12

NP_001243267.1

EC 3.6.4.12

NP_001335380.1

EC 3.6.4.12

NP_001335381.1

EC 3.6.4.12

NP_001335382.1

EC 3.6.4.12

NP_001335383.1

EC 3.6.4.12

NP_001335384.1

EC 3.6.4.12

NP_001335385.1

EC 3.6.4.12

NP_001335386.1

EC 3.6.4.12

NP_001335387.1

EC 3.6.4.12

NP_001335388.1

EC 3.6.4.12

NP_001335389.1

EC 3.6.4.12

NP_001335390.1

EC 3.6.4.12

NP_001335391.1

EC 3.6.4.12

NP_001335392.1

EC 3.6.4.12

NP_001335393.1

EC 3.6.4.12

NP_001335394.1

EC 3.6.4.12

NP_001335395.1

EC 3.6.4.12

NP_004275.4

EC 3.6.4.12

NP_078844.2

EC 3.6.4.12

XP_024306819.1

EC 3.6.4.12

XP_047290957.1

EC 3.6.4.12

XP_054195684.1

EC 3.6.4.12

XP_054195685.1

EC 3.6.4.12

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_052905.1 RefSeqGene

Range

74491..127569

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256336.3 → NP_001243265.1 chromodomain-helicase-DNA-binding protein 1-like isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

X5D2E5

Conserved Domains (5) summary

PLN03142
Location:16 → 599

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd00046
Location:15 → 105

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd03331
Location:616 → 766

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

pfam00271
Location:246 → 359

Helicase_C; Helicase conserved C-terminal domain

pfam06936
Location:546 → 595

Selenoprotein_S; Selenoprotein S (SelS)
NM_001256337.3 → NP_001243266.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several exons in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1. Variants 4 and 12-22 all encode the same isoform (4).

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001256338.3 → NP_001243267.1 chromodomain-helicase-DNA-binding protein 1-like isoform 5

See identical proteins and their annotated locations for NP_001243267.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several exons in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.

Source sequence(s)

AC242426

Consensus CDS

CCDS58021.1

UniProtKB/TrEMBL

B4DLS6

Related

ENSP00000358263.3, ENST00000369259.4

Conserved Domains (2) summary

cd03331
Location:512 → 662

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:44 → 495

SNF2_N; SNF2 family N-terminal domain
NM_001348451.2 → NP_001335380.1 chromodomain-helicase-DNA-binding protein 1-like isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 8, encodes isoform 6.

Source sequence(s)

AC241584, AC242426

Consensus CDS

CCDS91038.1

UniProtKB/TrEMBL

A0A0A0MSH9, X5D2E5

Conserved Domains (2) summary

cd03331
Location:644 → 794

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:1 → 627

SNF2_N; SNF2 family N-terminal domain
NM_001348452.2 → NP_001335381.1 chromodomain-helicase-DNA-binding protein 1-like isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variant 7, encodes isoform 6.

Source sequence(s)

AC242426

Consensus CDS

CCDS91038.1

UniProtKB/TrEMBL

A0A0A0MSH9, X5D2E5

Related

ENSP00000389031.3, ENST00000431239.6

Conserved Domains (2) summary

cd03331
Location:644 → 794

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:1 → 627

SNF2_N; SNF2 family N-terminal domain
NM_001348453.2 → NP_001335382.1 chromodomain-helicase-DNA-binding protein 1-like isoform 3

Status: REVIEWED

Source sequence(s)

AC242426

UniProtKB/TrEMBL

X5D2E5

Conserved Domains (2) summary

cd03331
Location:603 → 753

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:2 → 586

SNF2_N; SNF2 family N-terminal domain
NM_001348454.2 → NP_001335383.1 chromodomain-helicase-DNA-binding protein 1-like isoform 8

Status: REVIEWED

Source sequence(s)

AC242426

Consensus CDS

CCDS91037.1

UniProtKB/TrEMBL

A0A0A0MRH8, B4DLS6

Related

ENSP00000355100.6, ENST00000361293.10

Conserved Domains (2) summary

cd03331
Location:564 → 714

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:45 → 547

SNF2_N; SNF2 family N-terminal domain
NM_001348455.2 → NP_001335384.1 chromodomain-helicase-DNA-binding protein 1-like isoform 9

Status: REVIEWED

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

cd03331
Location:553 → 703

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:2 → 536

SNF2_N; SNF2 family N-terminal domain
NM_001348456.2 → NP_001335385.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 4 and 13-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348457.2 → NP_001335386.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variants 4, 12, and 14-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348458.2 → NP_001335387.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 4, 12-13, and 15-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348459.2 → NP_001335388.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 4, 12-14, and 16-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348460.2 → NP_001335389.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variants 4, 12-15, and 17-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348461.2 → NP_001335390.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (17), as well as variants 4, 12-16, and 18-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348462.2 → NP_001335391.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (18), as well as variants 4, 12-17, and 19-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348463.2 → NP_001335392.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (19), as well as variants 4, 12-18, and 20-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348464.2 → NP_001335393.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (20), as well as variants 4, 12-19 and 21-22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348465.2 → NP_001335394.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (21), as well as variants 4, 12-20 and 22, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_001348466.2 → NP_001335395.1 chromodomain-helicase-DNA-binding protein 1-like isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (22), as well as variants 4 and 12-21, encodes isoform 4.

Source sequence(s)

AC242426

UniProtKB/TrEMBL

B4DLS6

Conserved Domains (2) summary

PLN03142
Location:1 → 418

PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

cd03331
Location:435 → 585

Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
NM_004284.6 → NP_004275.4 chromodomain-helicase-DNA-binding protein 1-like isoform 1

See identical proteins and their annotated locations for NP_004275.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC242426

Consensus CDS

CCDS927.1

UniProtKB/Swiss-Prot

A5YM64, B4DDE1, B5MDZ7, Q53EZ3, Q5VXX7, Q6DD94, Q6PK83, Q86WJ1, Q86XH3, Q96HF7, Q96SP3, Q9BVJ1, Q9NVV8

UniProtKB/TrEMBL

X5D2E5

Related

ENSP00000358262.4, ENST00000369258.8

Conserved Domains (2) summary

cd03331
Location:716 → 866

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:46 → 699

SNF2_N; SNF2 family N-terminal domain
NM_024568.4 → NP_078844.2 chromodomain-helicase-DNA-binding protein 1-like isoform 3

See identical proteins and their annotated locations for NP_078844.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses a different splice site in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Variants 3 and 9 both encode the same isoform (3).

Source sequence(s)

AC242426

UniProtKB/TrEMBL

X5D2E5

Conserved Domains (2) summary

cd03331
Location:603 → 753

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:2 → 586

SNF2_N; SNF2 family N-terminal domain

RNA

NR_046070.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay.(NMD).

Source sequence(s)

AC242426

Related

ENST00000467213.5
NR_145681.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000652161.1
NR_145682.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000650721.1
NR_145683.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000651410.1
NR_145684.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000650828.1
NR_145685.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426
NR_145686.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000651407.1
NR_145687.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426
NR_145688.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426
NR_145689.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000652616.1
NR_145690.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000652346.1
NR_145691.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426
NR_145692.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000652494.1
NR_145693.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000488864.5
NR_145694.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000652486.1
NR_145695.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC242426

Related

ENST00000651207.1

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

147172747..147295762

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435001.1 → XP_047290957.1 chromodomain-helicase-DNA-binding protein 1-like isoform X1
XM_024451051.2 → XP_024306819.1 chromodomain-helicase-DNA-binding protein 1-like isoform X2

UniProtKB/TrEMBL

A0A494C179

Related

ENSP00000498899.1, ENST00000652587.1

Conserved Domains (2) summary

cd03331
Location:289 → 439

Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...

cl26465
Location:1 → 272

SNF2_N; SNF2 family N-terminal domain

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

147512572..147635662 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339710.1 → XP_054195685.1 chromodomain-helicase-DNA-binding protein 1-like isoform X2
XM_054339709.1 → XP_054195684.1 chromodomain-helicase-DNA-binding protein 1-like isoform X1