U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 64769, updated on 2-Nov-2024

Summary

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

Genomic context

Go to the top of the page Help
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

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 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. Alternative RNA splicing of the MEAF6 gene facilitates neuroendocrine prostate cancer progression. Lee AR, et al. Oncotarget, 2017 Apr 25. PMID 28427194, Free PMC Article
  2. MiR-197-3p reduces bortezomib resistance in multiple myeloma by inhibiting IL-6 expression in a MEAF6-dependent manner. Liu Y, et al. Leuk Res, 2022 Mar. PMID 35074616
  3. MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma. Micci F, et al. Cancer Lett, 2014 May 28. PMID 24530230
  4. Role of Jade-1 in the histone acetyltransferase (HAT) HBO1 complex. Foy RL, et al. J Biol Chem, 2008 Oct 24. PMID 18684714, Free PMC Article
  5. Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma. Antonescu CR, et al. Genes Chromosomes Cancer, 2014 Feb. PMID 24285434, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MiR-197-3p reduces bortezomib resistance in multiple myeloma by inhibiting IL-6 expression in a MEAF6-dependent manner.
    Title: MiR-197-3p reduces bortezomib resistance in multiple myeloma by inhibiting IL-6 expression in a MEAF6-dependent manner.
  2. These findings suggest that the MEAF6-1 variant does not induce neuroendocrine differentiation of prostate cancer cells, but rather facilitates t-NEPC progression by increasing the proliferation rate of cells that have acquired neuroendocrine phenotypes.
    Title: Alternative RNA splicing of the MEAF6 gene facilitates neuroendocrine prostate cancer progression.
  3. ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors.
    Title: Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.
  4. present two more ESS with MEAF6/PHF1 detected by transcriptome sequencing (case 1) and RT-PCR (case 2), proving that this fusion is recurrent in ESS
    Title: MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma.
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

EBI GWAS Catalog

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

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

  • FLJ11730

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to histone H3K14 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone H4K12 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone H4K5 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone H4K8 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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

Go to the top of the page Help
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)

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_001270875.3 → NP_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:18 → 96
    NuA4; Histone acetyltransferase subunit NuA4

  2. NM_001270876.3 → NP_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:18 → 96
    NuA4; Histone acetyltransferase subunit NuA4

  3. NM_022756.7 → NP_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:18 → 96
    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_047428043.1 → XP_047283999.1  chromatin modification-related protein MEAF6 isoform X2

  2. XM_047428042.1 → XP_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_054338300.1 → XP_054194275.1  chromatin modification-related protein MEAF6 isoform X2

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HAF1.1 GenPept UniProtKB/Swiss-Prot:Q9HAF1

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