DMAP1 DNA methyltransferase 1 associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DMAP1provided by HGNC
Official Full Name: DNA methyltransferase 1 associated protein 1provided by HGNC
Primary source: HGNC:HGNC:18291
See related: Ensembl:ENSG00000178028 MIM:605077; AllianceGenome:HGNC:18291
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: EAF2; SWC4; MEAF2; DNMAP1; DNMTAP1
Summary: This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 14.7), ovary (RPKM 11.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (44213471..44220673)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (44084361..44091563)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (44679143..44686345)

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
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?

Findings reveal a regulatory role of Bub3 in DMAP1-mediated DNA methylation upon mitotic stress.
Title: C-Src confers resistance to mitotic stress through inhibition DMAP1/Bub3 complex formation in pancreatic cancer.
A novel tumour suppressor gene, MDGA2, which is frequently inactivated by promoter methylation in Gastric cancer, exerts a tumour suppressive function by cooperating with DMAP1 to activate the p53/p21 signalling cascade.
Title: MDGA2 is a novel tumour suppressor cooperating with DMAP1 in gastric cancer and is associated with disease outcome.
Targeted knockdown of human DNA methyltransferase 1 expression restores the expression levels of tumor suppressor genes, thus inhibiting the proliferation of cholangiocarcinoma cell line cells.
Title: si-DNMT1 restore tumor suppressor genes expression through the reversal of DNA hypermethylation in cholangiocarcinoma.
These results suggest that DMAP1 is a critical regulator of ATM activity and function
Title: DMAP1 is an essential regulator of ATM activity and function.
positive staining for DNMT1 in clinical cancer specimens was significantly linked to lower rates of response to treatments and shorter survival of patients with pharyngeal cancer.
Title: Role of DNA methyltransferase 1 in pharyngeal cancer related to treatment resistance.
Knocking down DMAP1 caused hypomethylation of the DNA repair products.
Title: DNA methyltransferase 1-associated protein (DMAP1) is a co-repressor that stimulates DNA methylation globally and locally at sites of double strand break repair.
MMTR is an intrinsic negative cell cycle regulator that modulates the CAK kinase activity via interaction with MAT1.
Title: Corepressor MMTR/DMAP1 is an intrinsic negative regulator of CAK kinase to regulate cell cycle progression.
RGS6 inhibited the transcriptional repressor activity of DMAP1.
Title: RGS6 interacts with DMAP1 and DNMT1 and inhibits DMAP1 transcriptional repressor activity.

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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

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

D11S2921 (e-PCR)
- UniSTS:152074

D1S1251 (e-PCR)
- UniSTS:149448

STS-AA040569 (e-PCR)
- UniSTS:68560

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NuA4 histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Swr1 complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in replication fork	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA methyltransferase 1-associated protein 1

Names: DNMT1 associated protein 1

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_001034023.2 → NP_001029195.1 DNA methyltransferase 1-associated protein 1

See identical proteins and their annotated locations for NP_001029195.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AL137200, CA842195

Consensus CDS

CCDS509.1

UniProtKB/Swiss-Prot

A8K001, D3DPY8, Q0JSM4, Q5TG41, Q7Z3H7, Q9H0S8, Q9NPF5, Q9P2C2

Related

ENSP00000312697.5, ENST00000315913.9

Conserved Domains (2) summary

pfam05499
Location:243 → 402

DMAP1; DNA methyltransferase 1-associated protein 1 (DMAP1)

pfam16282
Location:124 → 203

SANT_DAMP1_like; SANT/Myb-like domain of DAMP1
NM_001034024.2 → NP_001029196.1 DNA methyltransferase 1-associated protein 1

See identical proteins and their annotated locations for NP_001029196.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

BC002855, BU616029

Consensus CDS

CCDS509.1

UniProtKB/Swiss-Prot

A8K001, D3DPY8, Q0JSM4, Q5TG41, Q7Z3H7, Q9H0S8, Q9NPF5, Q9P2C2

Related

ENSP00000354697.6, ENST00000361745.10

Conserved Domains (2) summary

pfam05499
Location:243 → 402

DMAP1; DNA methyltransferase 1-associated protein 1 (DMAP1)

pfam16282
Location:124 → 203

SANT_DAMP1_like; SANT/Myb-like domain of DAMP1
NM_019100.5 → NP_061973.1 DNA methyltransferase 1-associated protein 1

See identical proteins and their annotated locations for NP_061973.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

BC008053, BU616029, CB123593

Consensus CDS

CCDS509.1

UniProtKB/Swiss-Prot

A8K001, D3DPY8, Q0JSM4, Q5TG41, Q7Z3H7, Q9H0S8, Q9NPF5, Q9P2C2

Related

ENSP00000361363.2, ENST00000372289.7

Conserved Domains (2) summary

pfam05499
Location:243 → 402

DMAP1; DNA methyltransferase 1-associated protein 1 (DMAP1)

pfam16282
Location:124 → 203

SANT_DAMP1_like; SANT/Myb-like domain of DAMP1