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] See more...

Aliases for MEAF6 Gene

Aliases for MEAF6 Gene

  • MYST/Esa1 Associated Factor 6 2 3 5
  • Chromatin Modification-Related Protein MEAF6 3 4
  • MYST/Esa1-Associated Factor 6 2 4
  • Sarcoma Antigen NY-SAR-91 3 4
  • Centromere Protein 28 2 3
  • Protein EAF6 Homolog 3 4
  • C1orf149 3 4
  • CENP-28 3 4
  • EAF6 3 4
  • Esa1p-Associated Factor 6 Homolog (S. Cerevisiae) 2
  • Chromosome 1 Open Reading Frame 149 2
  • Esa1p-Associated Factor 6 Homolog 3
  • Esa1-Associated Factor 6 Homolog 4
  • NY-SAR-91 3
  • HEAF6 4

External Ids for MEAF6 Gene

Previous HGNC Symbols for MEAF6 Gene

  • C1orf149

Previous GeneCards Identifiers for MEAF6 Gene

  • GC01M037732
  • GC01M037951
  • GC01M036075

Summaries for MEAF6 Gene

Entrez Gene Summary for MEAF6 Gene

  • 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]

GeneCards Summary for MEAF6 Gene

MEAF6 (MYST/Esa1 Associated Factor 6) is a Protein Coding gene. Diseases associated with MEAF6 include Endometrial Stromal Sarcoma and Ossifying Fibromyxoid Tumor. Among its related pathways are Chromatin organization and Gene Expression.

UniProtKB/Swiss-Prot Summary for MEAF6 Gene

  • Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Gene Wiki entry for MEAF6 Gene

Additional gene information for MEAF6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEAF6 Gene

Genomics for MEAF6 Gene

GeneHancer (GH) Regulatory Elements for MEAF6 Gene

Promoters and enhancers for MEAF6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEAF6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEAF6

Genomic Locations for MEAF6 Gene

Genomic Locations for MEAF6 Gene
chr1:37,489,960-37,514,819
(GRCh38/hg38)
Size:
24,860 bases
Orientation:
Minus strand
chr1:37,958,176-37,980,375
(GRCh37/hg19)
Size:
22,200 bases
Orientation:
Minus strand

Genomic View for MEAF6 Gene

Genes around MEAF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEAF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEAF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEAF6 Gene

Proteins for MEAF6 Gene

  • Protein details for MEAF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAF1-EAF6_HUMAN
    Recommended name:
    Chromatin modification-related protein MEAF6
    Protein Accession:
    Q9HAF1
    Secondary Accessions:
    • B1AK64
    • Q4F967
    • Q7Z311
    • Q86WE3

    Protein attributes for MEAF6 Gene

    Size:
    191 amino acids
    Molecular mass:
    21635 Da
    Quaternary structure:
    • Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5 and the subunits EP400, TRRAP, BRD8, EPC1, DMAP1, RUVBL1, RUVBL2, ING3, actin, ACTL6A, MORF4L1, MORF4L2, MRGBP, YEATS4, VPS72 and MEAF6. Component of the HBO1 complex composed at least of ING4 or ING5, KAT7/HBO1, MEAF6, and one of JADE1, JADE2 and JADE3. Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3.

    Alternative splice isoforms for MEAF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEAF6 Gene

Post-translational modifications for MEAF6 Gene

  • Ubiquitination at Lys26
  • Modification sites at PhosphoSitePlus

Other Protein References for MEAF6 Gene

No data available for DME Specific Peptides for MEAF6 Gene

Domains & Families for MEAF6 Gene

Gene Families for MEAF6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MEAF6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MEAF6 Gene

GenScript: Design optimal peptide antigens:
  • Sarcoma antigen NY-SAR-91 (EAF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HAF1

UniProtKB/Swiss-Prot:

EAF6_HUMAN :
  • Belongs to the EAF6 family.
Family:
  • Belongs to the EAF6 family.
genes like me logo Genes that share domains with MEAF6: view

Function for MEAF6 Gene

Molecular function for MEAF6 Gene

UniProtKB/Swiss-Prot Function:
Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Phenotypes From GWAS Catalog for MEAF6 Gene

Gene Ontology (GO) - Molecular Function for MEAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0043994 contributes_to histone acetyltransferase activity (H3-K23 specific) IBA 21873635
genes like me logo Genes that share ontologies with MEAF6: view
genes like me logo Genes that share phenotypes with MEAF6: view

Animal Model Products

CRISPR Products

miRNA for MEAF6 Gene

miRTarBase miRNAs that target MEAF6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MEAF6 Gene

Localization for MEAF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEAF6 Gene

Nucleus, nucleolus. Chromosome, centromere, kinetochore.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEAF6 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MEAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IDA,IEA 20813266
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with MEAF6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MEAF6 Gene

Pathways & Interactions for MEAF6 Gene

genes like me logo Genes that share pathways with MEAF6: view

Gene Ontology (GO) - Biological Process for MEAF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0016573 histone acetylation IEA --
GO:0043968 histone H2A acetylation IBA,IDA 14966270
GO:0043972 histone H3-K23 acetylation IEA --
GO:0043981 histone H4-K5 acetylation IDA,IBA 16387653
genes like me logo Genes that share ontologies with MEAF6: view

No data available for SIGNOR curated interactions for MEAF6 Gene

Drugs & Compounds for MEAF6 Gene

No Compound Related Data Available

Transcripts for MEAF6 Gene

mRNA/cDNA for MEAF6 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEAF6 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for MEAF6 Gene

GeneLoc Exon Structure for
MEAF6

Expression for MEAF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEAF6 Gene

Protein differential expression in normal tissues from HIPED for MEAF6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.4), CD8 Tcells (7.9), CD4 Tcells (7.7), and Blymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MEAF6 Gene



Protein tissue co-expression partners for MEAF6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEAF6

SOURCE GeneReport for Unigene cluster for MEAF6 Gene:

Hs.17118

Evidence on tissue expression from TISSUES for MEAF6 Gene

  • Nervous system(4.8)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with MEAF6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEAF6 Gene

Orthologs for MEAF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEAF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEAF6 31 30
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MEAF6 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEAF6 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MEAF6 31 30
  • 95.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Meaf6 30
  • 90.05 (n)
mouse
(Mus musculus)
Mammalia Meaf6 17 31 30
  • 89.45 (n)
oppossum
(Monodelphis domestica)
Mammalia MEAF6 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEAF6 31 30
  • 83.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEAF6 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia meaf6 30
  • 76.61 (n)
zebrafish
(Danio rerio)
Actinopterygii meaf6 31 30
  • 75.26 (n)
OneToOne
wufj63g06 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4459 30
fruit fly
(Drosophila melanogaster)
Insecta Eaf6 31
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0025.4 31
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5309 31
  • 47 (a)
OneToOne
Cin.5500 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5500 30
Species where no ortholog for MEAF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MEAF6 Gene

ENSEMBL:
Gene Tree for MEAF6 (if available)
TreeFam:
Gene Tree for MEAF6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MEAF6: view image

Paralogs for MEAF6 Gene

Pseudogenes.org Pseudogenes for MEAF6 Gene

genes like me logo Genes that share paralogs with MEAF6: view

No data available for Paralogs for MEAF6 Gene

Variants for MEAF6 Gene

Additional dbSNP identifiers (rs#s) for MEAF6 Gene

Structural Variations from Database of Genomic Variants (DGV) for MEAF6 Gene

Variant ID Type Subtype PubMed ID
esv2666365 CNV deletion 23128226
nsv476724 CNV novel sequence insertion 20440878
nsv519551 CNV gain 19592680
nsv524834 CNV gain 19592680

Variation tolerance for MEAF6 Gene

Residual Variation Intolerance Score: 33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEAF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEAF6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEAF6 Gene

Disorders for MEAF6 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MEAF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
ossifying fibromyxoid tumor
  • ossifying fibromyxoma
endometrial stromal nodule
ohdo syndrome, sbbys variant
  • sbbyss
myxoid leiomyosarcoma
  • leiomyosarcoma, myxoid
- elite association - COSMIC cancer census association via MalaCards
Search MEAF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EAF6_HUMAN
  • Note=A chromosomal aberration involving MEAF6 may be a cause of endometrial stromal tumors. Translocation t(1;6)(p34;p21) with PHF1. {ECO:0000269 PubMed:22761769}.

Additional Disease Information for MEAF6

genes like me logo Genes that share disorders with MEAF6: view

No data available for Genatlas for MEAF6 Gene

Publications for MEAF6 Gene

  1. ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. (PMID: 16387653) Doyon Y … Côté J (Molecular cell 2006) 2 3 4 54
  2. Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans. (PMID: 14966270) Doyon Y … Côté J (Molecular and cellular biology 2004) 2 3 4 54
  3. Identification of new subunits of the multiprotein mammalian TRRAP/TIP60-containing histone acetyltransferase complex. (PMID: 12963728) Cai Y … Conaway JW (The Journal of biological chemistry 2003) 2 3 4 54
  4. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. (PMID: 20813266) Ohta S … Rappsilber J (Cell 2010) 3 4 54
  5. Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes. (PMID: 18794358) Ullah M … Yang XJ (Molecular and cellular biology 2008) 3 4 54

Products for MEAF6 Gene

Sources for MEAF6 Gene