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KAT7 lysine acetyltransferase 7 [ Homo sapiens (human) ]

Gene ID: 11143, updated on 9-Feb-2020

Summary

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Official Symbol
KAT7provided by HGNC
Official Full Name
lysine acetyltransferase 7provided by HGNC
Primary source
HGNC:HGNC:17016
See related
Ensembl:ENSG00000136504 MIM:609880
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
HBO1; HBOA; MYST2; ZC2HC7
Summary
The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]
Expression
Broad expression in testis (RPKM 37.1), bone marrow (RPKM 22.8) and 24 other tissues See more
Orthologs
mouse all

Genomic context

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See KAT7 in Genome Data Viewer
Location:
17q21.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (49788681..49835026)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47865922..47906458)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member B1 Neighboring gene family with sequence similarity 117 member A Neighboring gene uncharacterized LOC729220 Neighboring gene tachykinin precursor 4 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3537

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
  • 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. HBO1 directs histone H4 specific acetylation, potentiating mechano-transduction pathways and membrane elasticity in ovarian cancer cells. Quintela M, et al. Nanomedicine, 2019 Apr. PMID 30759370
  2. HBO1 promotes cell proliferation in bladder cancer via activation of Wnt/β-catenin signaling. Chen Z, et al. Mol Carcinog, 2018 Jan. PMID 28796367
  3. Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repair. Niida H, et al. Nat Commun, 2017 Jul 18. PMID 28719581, Free PMC Article
  4. Upregulated KAT7 in synovial fibroblasts promotes Th17 cell differentiation and infiltration in rheumatoid arthritis. Gao S, et al. Biochem Biophys Res Commun, 2017 Jul 22. PMID 28552525
  5. Functional analysis of HBO1 in tumor development and inhibitor screening. Guo LL, et al. Int J Mol Med, 2016 Jul. PMID 27247147

See all (86) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These data suggest that LYAR promotes the association of the BRD2-KAT7 and BRD4-KAT7 complexes with transcription-competent rDNA loci but not to transcriptionally silent rDNA loci, thereby increasing rRNA synthesis by altering the local acetylation status of histone H3 and H4.
    Title: LYAR potentiates rRNA synthesis by recruiting BRD2/4 and the MYST-type acetyltransferase KAT7 to rDNA.
  2. HBO1 preferentially acetylates histone H4 through the concomitant overexpression of co-regulator JADE2, and is required for the expression of YAP1, an ovarian cancer oncogene and mechano-transductor signaling factor.
    Title: HBO1 directs histone H4 specific acetylation, potentiating mechano-transduction pathways and membrane elasticity in ovarian cancer cells.
  3. These findings indicate that USP25 promotes stability of HBO1 in bacterial infection thereby enhances HBO1-mediated inflammatory gene transcription.
    Title: LPS promotes HBO1 stability via USP25 to modulate inflammatory gene transcription in THP-1 cells.
  4. results indicate that the N-terminal region of JADE1 functions as a platform that brings together the catalytic HBO1 subunit with its cognate H3-H4 substrate for histone acetylation
    Title: The scaffolding protein JADE1 physically links the acetyltransferase subunit HBO1 with its histone H3-H4 substrate.
  5. acts in concert with SNF2H-ACF1 to make the chromosome structure more accessible to canonical nucleotide excision repair factors
    Title: Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repair.
  6. Hbo1 is another ERalpha coactivator that ubiquitinates ERalpha
    Title: Intrinsic ubiquitin E3 ligase activity of histone acetyltransferase Hbo1 for estrogen receptor α.
  7. Histone acetyltransferase binding to ORC1 (HBO1) is upregulated in bladder cancer.
    Title: HBO1 promotes cell proliferation in bladder cancer via activation of Wnt/β-catenin signaling.
  8. The results demonstrate some connections between KAT7 upregulated in RA SFs and RA progression and present the inhibition of KAT7 activity as a novel therapeutic target for interfering RA disease.
    Title: Upregulated KAT7 in synovial fibroblasts promotes Th17 cell differentiation and infiltration in rheumatoid arthritis.
  9. Structural and mechanistic insights into regulation of HBO1 histone acetyltransferase activity by BRPF2 have been presented.
    Title: Structural and mechanistic insights into regulation of HBO1 histone acetyltransferase activity by BRPF2.
  10. KAT7-containing acetyltransferases associating with the Mis18 complex provides competence for histone turnover/exchange activity on alphoid DNA and prevents Suv39h1-mediated heterochromatin invasion into centromeres.
    Title: KAT7/HBO1/MYST2 Regulates CENP-A Chromatin Assembly by Antagonizing Suv39h1-Mediated Centromere Inactivation.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Cellular acetyltransferase binds HIV-1 integrase both in vitro and in cells and acetylates three specific lysine's (K264, K266, K273) in the carboxy-terminus of integrase PubMed

Go to the HIV-1, Human Interaction Database

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA replication origin binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
  
histone acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
transcription regulatory region DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
histone H3 acetylation IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
 PubMed 
histone H4-K8 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
internal peptidyl-lysine acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of histone H4 acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of protein localization to nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
 PubMed 
response to actinomycin D IMP
Inferred from Mutant Phenotype
more info
 PubMed 
response to anisomycin IMP
Inferred from Mutant Phenotype
more info
 PubMed 
response to dithiothreitol IMP
Inferred from Mutant Phenotype
more info
 PubMed 
response to hydroxyurea IMP
Inferred from Mutant Phenotype
more info
 PubMed 
response to sorbitol IMP
Inferred from Mutant Phenotype
more info
 PubMed 
stress-activated protein kinase signaling cascade IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
  
histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
histone acetyltransferase KAT7
Names
K(lysine) acetyltransferase 7
MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2
MYST histone acetyltransferase 2
histone acetyltransferase MYST2
histone acetyltransferase binding to ORC1
NP_001186084.1
NP_001186085.1
NP_001186086.1
NP_001186087.1
NP_001333635.1
NP_008998.1
XP_011522537.1

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.

Genomic

  1. NG_051976.1 RefSeqGene

    Range
    5001..45478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199155.2 → NP_001186084.1  histone acetyltransferase KAT7 isoform 2

    See identical proteins and their annotated locations for NP_001186084.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC015795, AC027801
    Consensus CDS
    CCDS56035.1
    UniProtKB/Swiss-Prot
    O95251
    Related
    ENSP00000398961.2, ENST00000424009.6
    Conserved Domains (3) summary
    PLN00104
    Location:294 → 579
    PLN00104; MYST -like histone acetyltransferase; Provisional
    cd16378
    Location:209 → 262
    CcmH_N; N-terminal domain of cytochrome c-type biogenesis protein CcmH and related proteins
    pfam01530
    Location:184 → 212
    zf-C2HC; Zinc finger, C2HC type

  2. NM_001199156.2 → NP_001186085.1  histone acetyltransferase KAT7 isoform 3

    See identical proteins and their annotated locations for NP_001186085.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC015795, AC027801
    Consensus CDS
    CCDS56037.1
    UniProtKB/Swiss-Prot
    O95251
    Related
    ENSP00000413415.2, ENST00000454930.6
    Conserved Domains (2) summary
    pfam01530
    Location:53 → 73
    zf-C2HC; Zinc finger, C2HC type
    cl27485
    Location:185 → 470
    MOZ_SAS; MOZ/SAS family

  3. NM_001199157.2 → NP_001186086.1  histone acetyltransferase KAT7 isoform 4

    See identical proteins and their annotated locations for NP_001186086.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC015795, AC027801
    Consensus CDS
    CCDS56036.1
    UniProtKB/Swiss-Prot
    O95251
    Related
    ENSP00000424577.1, ENST00000509773.5
    Conserved Domains (2) summary
    pfam01530
    Location:113 → 132
    zf-C2HC; Zinc finger, C2HC type
    cl27485
    Location:214 → 499
    MOZ_SAS; MOZ/SAS family

  4. NM_001199158.2 → NP_001186087.1  histone acetyltransferase KAT7 isoform 5

    See identical proteins and their annotated locations for NP_001186087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC015795, AC027801
    Consensus CDS
    CCDS56038.1
    UniProtKB/Swiss-Prot
    O95251
    Related
    ENSP00000423385.1, ENST00000510819.5
    Conserved Domains (3) summary
    pfam01530
    Location:53 → 73
    zf-C2HC; Zinc finger, C2HC type
    cl01179
    Location:70 → 123
    CcmH_N; N-terminal domain of cytochrome c-type biogenesis protein CcmH and related proteins
    cl27485
    Location:155 → 440
    MOZ_SAS; MOZ/SAS family

  5. NM_001346706.2 → NP_001333635.1  histone acetyltransferase KAT7 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC015795, AC027801
    Conserved Domains (2) summary
    pfam01530
    Location:113 → 132
    zf-C2HC; Zinc finger, C2HC type
    cl27485
    Location:244 → 529
    MOZ_SAS; MOZ/SAS family

  6. NM_007067.5 → NP_008998.1  histone acetyltransferase KAT7 isoform 1

    See identical proteins and their annotated locations for NP_008998.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC015795, AC027801
    Consensus CDS
    CCDS11554.1
    UniProtKB/Swiss-Prot
    O95251
    Related
    ENSP00000259021.4, ENST00000259021.9
    Conserved Domains (2) summary
    PLN00104
    Location:324 → 609
    PLN00104; MYST -like histone acetyltransferase; Provisional
    pfam01530
    Location:184 → 212
    zf-C2HC; Zinc finger, C2HC type

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    49788681..49835026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524235.3 → XP_011522537.1  histone acetyltransferase KAT7 isoform X1

    See identical proteins and their annotated locations for XP_011522537.1

    Conserved Domains (2) summary
    pfam01853
    Location:110 → 288
    MOZ_SAS; MOZ/SAS family
    cl17182
    Location:54 → 306
    NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95251.1 GenPept UniProtKB/Swiss-Prot:O95251

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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