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KAT6B K(lysine) acetyltransferase 6B [ Homo sapiens (human) ]

Gene ID: 23522, updated on 18-Oct-2014
Official Symbol
KAT6Bprovided by HGNC
Official Full Name
K(lysine) acetyltransferase 6Bprovided by HGNC
Primary source
HGNC:HGNC:17582
See related
Ensembl:ENSG00000156650; HPRD:07065; MIM:605880; Vega:OTTHUMG00000018509
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
qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf
Summary
The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
See KAT6B in Epigenomics, MapViewer
Location:
10q22.2
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (74824927..75032622)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (76584685..76792380)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene adenosine kinase Neighboring gene polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1 Neighboring gene family with sequence similarity 32, member C (pseudogene) Neighboring gene uncharacterized LOC101929165 Neighboring gene dual specificity phosphatase and pro isomerase domain containing 1 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene 13

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Genitopatellar syndrome
MedGen: C1853566 OMIM: 606170 GeneReviews: Not available
Compare labs
Young Simpson syndrome
MedGen: C1863557 OMIM: 603736 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-06-20)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2013-06-20)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog

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

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ90335, KIAA0383, DKFZp313G1618

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone acetylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
nucleosome assembly NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MOZ/MORF histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleosome NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
histone acetyltransferase KAT6B
Names
histone acetyltransferase KAT6B
MYST-4
MOZ-related factor
histone acetyltransferase MORF
histone acetyltransferase MOZ2
histone acetyltransferase MYST4
MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4
MYST histone acetyltransferase (monocytic leukemia) 4
monocytic leukemia zinc finger protein-related factor
NP_001243397.1
NP_001243398.1
NP_036462.2

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_032048.1 

    Range
    5001..211210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256468.1NP_001243397.1  histone acetyltransferase KAT6B isoform 2

    See proteins identical to NP_001243397.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an 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)
    AF119230, AF217500, BC150618, DA488537
    Consensus CDS
    CCDS58085.1
    UniProtKB/TrEMBL
    B2RWN8
    UniProtKB/Swiss-Prot
    Q8WYB5
    Related
    ENSP00000361796, OTTHUMP00000019869, ENST00000372711, OTTHUMT00000048772
    Conserved Domains (3) summary
    smart00526
    Location:113167
    H15; Domain in histone families 1 and 5
    pfam00628
    Location:272320
    PHD; PHD-finger
    pfam01853
    Location:590777
    MOZ_SAS; MOZ/SAS family
  2. NM_001256469.1NP_001243398.1  histone acetyltransferase KAT6B isoform 3

    See proteins identical to NP_001243398.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon 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)
    AF113514, AF217500, BC150618, DA488537
    Consensus CDS
    CCDS58084.1
    UniProtKB/TrEMBL
    B2RWN8
    UniProtKB/Swiss-Prot
    Q8WYB5
    Related
    ENSP00000361809, OTTHUMP00000019866, ENST00000372724, OTTHUMT00000048769
    Conserved Domains (3) summary
    smart00526
    Location:113167
    H15; Domain in histone families 1 and 5
    pfam00628
    Location:272320
    PHD; PHD-finger
    pfam01853
    Location:481668
    MOZ_SAS; MOZ/SAS family
  3. NM_012330.3NP_036462.2  histone acetyltransferase KAT6B isoform 1

    See proteins identical to NP_036462.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF217500, BC014143, BC150618, DA488537
    Consensus CDS
    CCDS7345.1
    UniProtKB/TrEMBL
    B2RWN8
    UniProtKB/Swiss-Prot
    Q8WYB5
    Related
    ENSP00000287239, OTTHUMP00000019868, ENST00000287239, OTTHUMT00000048771
    Conserved Domains (4) summary
    PLN03239
    Location:662989
    PLN03239; histone acetyltransferase; Provisional
    smart00526
    Location:113167
    H15; Domain in histone families 1 and 5
    pfam00628
    Location:272320
    PHD; PHD-finger
    pfam01853
    Location:773960
    MOZ_SAS; MOZ/SAS family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    74824927..75032622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269664.1XP_005269721.1  

    See proteins identical to XP_005269721.1

    UniProtKB/Swiss-Prot
    Q8WYB5
    Conserved Domains (4) summary
    PLN03239
    Location:662989
    PLN03239; histone acetyltransferase; Provisional
    smart00526
    Location:113167
    H15; Domain in histone families 1 and 5
    pfam00628
    Location:272320
    PHD; PHD-finger
    pfam01853
    Location:773960
    MOZ_SAS; MOZ/SAS family

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    70584503..70790954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    76868040..77074125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)