KAT7 lysine acetyltransferase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KAT7provided by HGNC
Official Full Name: lysine acetyltransferase 7provided by HGNC
Primary source: HGNC:HGNC:17016
See related: Ensembl:ENSG00000136504 MIM:609880; Vega:OTTHUMG00000161770
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

Location:: 17q21.33

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	17	NC_000017.11 (49788619..49829096)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (47865922..47906458)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Jun 15 11:32:44 2016

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Hbo1 is another ERalpha coactivator that ubiquitinates ERalpha
Title: Intrinsic ubiquitin E3 ligase activity of histone acetyltransferase Hbo1 for estrogen receptor α.
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.
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.
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.
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.
the possible binding sites and biological functions of HBO1, were identified.
Title: Functional analysis of HBO1 in tumor development and inhibitor screening.
Data show that HTLV-1 basic leucine zipper (bZIP) factor (HBZ) represses p53 activity by direct inhibition of the histone acetyltransferase (HAT) activity of p300/CBP and the HAT activity of HBO1: [HBZ]
Title: Human T-cell leukemia virus type-1-encoded protein HBZ represses p53 function by inhibiting the acetyltransferase activity of p300/CBP and HBO1.
This study demonstrates that CRL4(DDB2) is a novel ubiquitin ligase of HBO1.
Title: UV Damage-Induced Phosphorylation of HBO1 Triggers CRL4DDB2-Mediated Degradation To Regulate Cell Proliferation.
Taken together, MYST2 is a repressed growth suppressor in AML mediating reduced acetylation of histone 4 at residue 5 and is associated with inferior AML patient survival.
Title: MYST2 acetyltransferase expression and Histone H4 Lysine acetylation are suppressed in AML.
Myst2-mediated histone acetylation may be required for recruitment of Oct4 to the Nanog promoter
Title: The histone acetyltransferase Myst2 regulates Nanog expression, and is involved in maintaining pluripotency and self-renewal of embryonic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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

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)

HIV-1 interactions

Go to the top of the page Help

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 BioSystems

Go to the top of the page Help

Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
Chromatin organization, organism-specific biosystem (from REACTOME)
Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
HATs acetylate histones, organism-specific biosystem (from REACTOME)
HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
Regulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of Androgen receptor activity, organism-specific biosystem
Regulation of Androgen receptor activity

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

DXS7479 (e-PCR)
- UniSTS:47396

WI-14886 (e-PCR)
- UniSTS:15399

RH11199 (e-PCR)
- UniSTS:58410

GDB:451733 (e-PCR)
- UniSTS:99533

Homology

Homologs of the KAT7 gene: The KAT7 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and frog.
Orthologs from Annotation Pipeline: 224 organisms have orthologs with human gene KAT7
The Hierarchical Catalog of Orthologs

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, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
H4 histone acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor 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
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

Go to the top of the page Help

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

EC 2.3.1.48

NP_001186085.1

EC 2.3.1.48

NP_001186086.1

EC 2.3.1.48

NP_001186087.1

EC 2.3.1.48

NP_001333635.1

EC 2.3.1.48

NP_008998.1

EC 2.3.1.48

XP_011522537.1

EC 2.3.1.48

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_051976.1 RefSeqGene

Range

5001..45478

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199155.1 → 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, AF217502, AK294836, DC306552

Consensus CDS

CCDS56035.1

UniProtKB/Swiss-Prot

O95251

Related

ENSP00000398961.2, OTTHUMP00000220717, ENST00000424009.6, OTTHUMT00000366037

Conserved Domains (2) summary

pfam01530
Location:184 → 212

zf-C2HC; Zinc finger, C2HC type

cl27485
Location:294 → 579

MOZ_SAS; MOZ/SAS family
NM_001199156.1 → 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, AF217502, AK293976, DC306552

Consensus CDS

CCDS56037.1

UniProtKB/Swiss-Prot

O95251

Related

ENSP00000413415.2, OTTHUMP00000220714, ENST00000454930.6, OTTHUMT00000366033

Conserved Domains (2) summary

pfam01530
Location:53 → 73

zf-C2HC; Zinc finger, C2HC type

cl27485
Location:185 → 470

MOZ_SAS; MOZ/SAS family
NM_001199157.1 → 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)

AF217502, AK294014, DC306552

Consensus CDS

CCDS56036.1

UniProtKB/Swiss-Prot

O95251

Related

ENSP00000424577.1, OTTHUMP00000220715, ENST00000509773.5, OTTHUMT00000366034

Conserved Domains (2) summary

pfam01530
Location:113 → 132

zf-C2HC; Zinc finger, C2HC type

cl27485
Location:214 → 499

MOZ_SAS; MOZ/SAS family
NM_001199158.1 → 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)

AF217502, AK294052, DC306552

Consensus CDS

CCDS56038.1

UniProtKB/Swiss-Prot

O95251

Related

ENSP00000423385.1, OTTHUMP00000220716, ENST00000510819.5, OTTHUMT00000366035

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
NM_001346706.1 → 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, AW889189

Conserved Domains (2) summary

pfam01530
Location:113 → 132

zf-C2HC; Zinc finger, C2HC type

cl27485
Location:244 → 529

MOZ_SAS; MOZ/SAS family
NM_007067.4 → 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)

AF217502, DC306552

Consensus CDS

CCDS11554.1

UniProtKB/Swiss-Prot

O95251

Related

ENSP00000259021.4, OTTHUMP00000220713, ENST00000259021.8, OTTHUMT00000366032

Conserved Domains (2) summary

pfam01530
Location:184 → 212

zf-C2HC; Zinc finger, C2HC type

cl27485
Location:324 → 609

MOZ_SAS; MOZ/SAS family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p12 Primary Assembly

Range

49788619..49829096

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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