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

    Gene ID: 55929, updated on 28-Oct-2024

    Summary

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    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

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    See DMAP1 in Genome Data Viewer
    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_000001.11Genomic 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. 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
    2. Role of DNA methyltransferase 1 in pharyngeal cancer related to treatment resistance. Chen CC, et al. Head Neck, 2011 Aug. PMID 21284050
    3. 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
    4. DMAP1 is an essential regulator of ATM activity and function. Penicud K, et al. Oncogene, 2014 Jan 23. PMID 23318425, 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 (109) 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

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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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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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)

    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_2024_08

    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.

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