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
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
109.20201120	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HBO1 is essential for H3K14 acetylation but HBO1 is dispensable for DNA replication and cell proliferation in immortalized human cells. HBO1 gene deletion led to profound changes in cell adhesion, particularly in 293T cells.
Title: HBO1 (KAT7) Does Not Have an Essential Role in Cell Proliferation, DNA Replication, or Histone 4 Acetylation in Human Cells.
identify the MYST acetyltransferase HBO1 (also known as KAT7 or MYST2) and several known members of the HBO1 protein complex as critical regulators of leukaemia stem cells maintenance
Title: HBO1 is required for the maintenance of leukaemia stem cells.
As the core catalytic subunit, HBO1 consists of an N-terminal domain and a C-terminal MYST domain that are in charge of acetyl-CoA binding and acetylation reaction. This paper reviews the recent advances and discusses the understanding of the multiple functions, activity regulation, and disease relationship of HBO1. [review]
Title: Deciphering structure, function and mechanism of lysine acetyltransferase HBO1 in protein acetylation, transcription regulation, DNA replication and its oncogenic properties in cancer.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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: 337 organisms have orthologs with human gene KAT7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA replication origin binding	IMP Inferred from Mutant Phenotype more info	PubMed
histone acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
histone acetyltransferase activity	IDA Inferred from Direct Assay 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 coregulator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA repair	IEA Inferred from Electronic Annotation more info
DNA replication	IDA Inferred from Direct Assay more info	PubMed
histone H3 acetylation	IDA Inferred from Direct Assay more info	PubMed
histone H3-K14 acetylation	IDA Inferred from Direct Assay more info	PubMed
histone H4 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
natural killer cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription, DNA-templated	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
positive regulation of DNA-templated transcription, elongation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of hematopoietic stem cell proliferation	IDA Inferred from Direct Assay 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 DNA-dependent DNA replication initiation	IDA Inferred from Direct Assay more info	PubMed
regulation of nucleotide-excision repair	IDA Inferred from Direct Assay 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
chromatin	IBA Inferred from Biological aspect of Ancestor more info	PubMed
chromosome	IDA Inferred from Direct Assay more info	PubMed
chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
cytosol	IDA Inferred from Direct Assay more info
histone H3-K14 acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
histone acetyltransferase complex	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
site of DNA damage	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

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)

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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

NG_051976.1 RefSeqGene

Range

5001..45478

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

49788681..49835026

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