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    MEAF6 MYST/Esa1 associated factor 6 [ Homo sapiens (human) ]

    Gene ID: 64769, updated on 28-Oct-2024

    Summary

    Official Symbol
    MEAF6provided by HGNC
    Official Full Name
    MYST/Esa1 associated factor 6provided by HGNC
    Primary source
    HGNC:HGNC:25674
    See related
    Ensembl:ENSG00000163875 MIM:611001; AllianceGenome:HGNC:25674
    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
    EAF6; CENP-28; C1orf149; NY-SAR-91
    Summary
    This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in prostate (RPKM 17.1), testis (RPKM 12.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MEAF6 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37489993..37514766, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37354747..37379496, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (37955594..37980367, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:37920349-37921548 Neighboring gene lncRNA induced by TGF-beta and antagonizes TGF-beta signaling 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 767 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:37944526-37945352 and GRCh37_chr1:37945353-37946179 Neighboring gene zinc finger CCCH-type containing 12A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 769 Neighboring gene microRNA 6732 Neighboring gene microRNA 5581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37984063-37984562 Neighboring gene uncharacterized LOC105378649 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:37999267-38000466 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:38005292-38006491 Neighboring gene Smad nuclear interacting protein 1 Neighboring gene ferritin heavy chain 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11730

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    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 regulation of DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of developmental process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of hemopoiesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MOZ/MORF histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MOZ/MORF histone acetyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of histone acetyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of nucleosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    chromatin modification-related protein MEAF6
    Names
    Esa1p-associated factor 6 homolog
    centromere protein 28
    protein EAF6 homolog
    sarcoma antigen NY-SAR-91

    NCBI Reference Sequences (RefSeq)

    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_001270875.3NP_001257804.1  chromatin modification-related protein MEAF6 isoform 2

      See identical proteins and their annotated locations for NP_001257804.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL034379, BC056406
      Consensus CDS
      CCDS59196.1
      UniProtKB/Swiss-Prot
      B1AK64, Q4F967, Q7Z311, Q86WE3, Q9HAF1
      UniProtKB/TrEMBL
      B1AK63
      Related
      ENSP00000296214.5, ENST00000296214.10
      Conserved Domains (1) summary
      pfam09340
      Location:1896
      NuA4; Histone acetyltransferase subunit NuA4
    2. NM_001270876.3NP_001257805.1  chromatin modification-related protein MEAF6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two coding exons and uses an alternate splice site in the 3' terminal exon compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL034379, BM840891
      Consensus CDS
      CCDS59195.1
      UniProtKB/Swiss-Prot
      Q9HAF1
      Related
      ENSP00000362164.4, ENST00000373073.8
      Conserved Domains (1) summary
      pfam09340
      Location:1896
      NuA4; Histone acetyltransferase subunit NuA4
    3. NM_022756.7NP_073593.2  chromatin modification-related protein MEAF6 isoform 1

      See identical proteins and their annotated locations for NP_073593.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL034379, BX640719
      Consensus CDS
      CCDS418.1
      UniProtKB/TrEMBL
      B1AK63
      Related
      ENSP00000362166.2, ENST00000373075.6
      Conserved Domains (1) summary
      pfam09340
      Location:1896
      NuA4; Histone acetyltransferase subunit NuA4

    RNA

    1. NR_073090.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL034379, DQ099384
    2. NR_073091.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL034379, BX386498
    3. NR_073092.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK309663, AL034379

    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
      37489993..37514766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428043.1XP_047283999.1  chromatin modification-related protein MEAF6 isoform X2

    2. XM_047428042.1XP_047283998.1  chromatin modification-related protein MEAF6 isoform X1

      Related
      ENSP00000394966.2, ENST00000448519.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37354747..37379496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338300.1XP_054194275.1  chromatin modification-related protein MEAF6 isoform X2

    2. XM_054338299.1XP_054194274.1  chromatin modification-related protein MEAF6 isoform X1