U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 55929, updated on 7-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p34.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44213471..44220673)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44084361..44091563)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44679143..44686345)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904170 Neighboring gene metaxin 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 807 Neighboring gene Sharpr-MPRA regulatory region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44679987-44680488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44680489-44680988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 808 Neighboring gene ERI3 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44703705-44704348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44705759-44706387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44706388-44707016 Neighboring gene ERI1 exoribonuclease family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44714707-44715318 Neighboring gene VISTA enhancer hs277 Neighboring gene small nucleolar RNA, H/ACA box 110

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. si-DNMT1 restore tumor suppressor genes expression through the reversal of DNA hypermethylation in cholangiocarcinoma. Xiang J, et al. Clin Res Hepatol Gastroenterol, 2014 Apr. PMID 24361215
  2. Role of DNA methyltransferase 1 in pharyngeal cancer related to treatment resistance. Chen CC, et al. Head Neck, 2011 Aug. PMID 21284050
  3. DNA methyltransferase 1-associated protein (DMAP1) is a co-repressor that stimulates DNA methylation globally and locally at sites of double strand break repair. Lee GE, et al. J Biol Chem, 2010 Nov 26. PMID 20864525, Free PMC Article
  4. C-Src confers resistance to mitotic stress through inhibition DMAP1/Bub3 complex formation in pancreatic cancer. Li J, et al. Mol Cancer, 2018 Dec 15. PMID 30553276, Free PMC Article
  5. MDGA2 is a novel tumour suppressor cooperating with DMAP1 in gastric cancer and is associated with disease outcome. Wang K, et al. Gut, 2016 Oct. PMID 26206665, Free PMC Article

See all (99) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. RGS6 inhibited the transcriptional repressor activity of DMAP1.
    Title: RGS6 interacts with DMAP1 and DNMT1 and inhibits DMAP1 transcriptional repressor activity.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ11543, KIAA1425, DKFZp686L09142

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

Go to the top of the page Help
Preferred Names
DNA methyltransferase 1-associated protein 1
Names
DNMT1 associated protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

  2. 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

  3. 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

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    44213471..44220673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    44084361..44091563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NPF5.1 GenPept UniProtKB/Swiss-Prot:Q9NPF5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous