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

Gene ID: 64769, updated on 5-Jan-2020

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
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

Genomic context

See MEAF6 in Genome Data Viewer
Location:
1p34.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (37489960..37514766, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (37955561..37980420, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4732 Neighboring gene zinc finger CCCH-type containing 12A Neighboring gene microRNA 6732 Neighboring gene microRNA 5581 Neighboring gene uncharacterized LOC105378649 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
  • 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11730

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to histone acetyltransferase activity (H3-K23 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
histone H2A acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H3-K14 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H3-K14 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H3-K23 acetylation IEA
Inferred from Electronic Annotation
more info
 
histone H4-K12 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4-K12 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
NOT histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4-K5 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4-K5 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4-K8 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4-K8 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
MOZ/MORF histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MOZ/MORF histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
NuA3a histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NuA3b histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
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)

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_001270875.2NP_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
    Q9HAF1
    Related
    ENSP00000296214.5, ENST00000296214.9
    Conserved Domains (1) summary
    pfam09340
    Location:1896
    NuA4; Histone acetyltransferase subunit NuA4
  2. NM_001270876.2NP_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_022756.6NP_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/Swiss-Prot
    Q9HAF1
    Related
    ENSP00000362166.2, ENST00000373075.6
    Conserved Domains (1) summary
    pfam09340
    Location:1896
    NuA4; Histone acetyltransferase subunit NuA4

RNA

  1. NR_073090.2 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_073091.2 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_073092.2 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: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    37489960..37514766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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