Human Gene KAT6B (ENST00000649463.1) Description and Page Index
  Description: Homo sapiens lysine acetyltransferase 6B (KAT6B), transcript variant 8, mRNA. (from RefSeq NM_001370136)
RefSeq Summary (NM_001370136): 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].
Gencode Transcript: ENST00000649463.1
Gencode Gene: ENSG00000156650.14
Transcript (Including UTRs)
   Position: hg38 chr10:74,825,492-75,032,221 Size: 206,730 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr10:74,842,858-75,031,046 Size: 188,189 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:74,825,492-75,032,221)mRNA (may differ from genome)Protein (2073 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: KAT6B_HUMAN
DESCRIPTION: RecName: Full=Histone acetyltransferase KAT6B; EC=2.3.1.48; AltName: Full=Histone acetyltransferase MOZ2; AltName: Full=MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; Short=MYST-4; AltName: Full=Monocytic leukemia zinc finger protein-related factor;
FUNCTION: Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.
CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone].
SUBUNIT: Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1 and RUNX2.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary.
DOMAIN: The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
PTM: Autoacetylated.
PTM: Autoacetylation at Lys-815 is required for proper function (By similarity).
DISEASE: Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP.
DISEASE: Defects in KAT6B are a cause of Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]. SBBYSS is a syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech.
DISEASE: Defects in KAT6B are a cause of genitopatellar syndrome (GTPTS) [MIM:606170]. GTPTS is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies.
SIMILARITY: Belongs to the MYST (SAS/MOZ) family.
SIMILARITY: Contains 1 C2HC-type zinc finger.
SIMILARITY: Contains 1 H15 (linker histone H1/H5 globular) domain.
SIMILARITY: Contains 2 PHD-type zinc fingers.
SEQUENCE CAUTION: Sequence=AAF00100.1; Type=Frameshift; Positions=550, 562; Sequence=AAH14143.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH48199.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYST4ID41488ch10q22.html";

-  MalaCards Disease Associations
  MalaCards Gene Search: KAT6B
Diseases sorted by gene-association score: genitopatellar syndrome* (1289), sbbyss syndrome* (1269), say-barber-biesecker variant of ohdo syndrome* (419), blepharophimosis intellectual disability syndromes* (400), kat6b-related disorders* (118), noonan syndrome 1* (102), monocytic leukemia (30), ohdo syndrome (26), blepharophimosis (20), adult medulloblastoma (9), eyelid disease (7), rapadilino syndrome (7), conversion disorder (6), shprintzen-goldberg syndrome (6), meier-gorlin syndrome 1 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D000535 Aluminum
  • D001564 Benzo(a)pyrene
  • D002794 Choline
  • D005492 Folic Acid
  • D005557 Formaldehyde
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.35 RPKM in Ovary
Total median expression: 188.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -160.30511-0.314 Picture PostScript Text
3' UTR -272.301175-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016181 - Acyl_CoA_acyltransferase
IPR005818 - Histone_H1/H5
IPR002717 - MOZ_SAS
IPR011991 - WHTH_trsnscrt_rep_DNA-bd
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00538 - linker histone H1 and H5 family
PF01853 - MOZ/SAS family
PF00628 - PHD-finger

ModBase Predicted Comparative 3D Structure on Q8WYB5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0004402 histone acetyltransferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding

Biological Process:
GO:0006325 chromatin organization
GO:0006334 nucleosome assembly
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016573 histone acetylation
GO:0043966 histone H3 acetylation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0000786 nucleosome
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0070776 MOZ/MORF histone acetyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  LF209956 - JP 2014500723-A/17459: Polycomb-Associated Non-Coding RNAs.
MA445533 - JP 2018138019-A/17459: Polycomb-Associated Non-Coding RNAs.
AK074816 - Homo sapiens cDNA FLJ90335 fis, clone NT2RP2002304.
BC014143 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone IMAGE:4761825), partial cds.
BC048199 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone IMAGE:5923112), partial cds.
AF217500 - Homo sapiens histone acetyltransferase MOZ2 (MOZ2) mRNA, complete cds.
BC150618 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone MGC:183528 IMAGE:9056988), complete cds.
AF113514 - Homo sapiens histone acetyltransferase MORF mRNA, complete cds.
AF119230 - Homo sapiens histone acetyltransferase MORF alpha mRNA, alternative splice product, complete cds.
AF119231 - Homo sapiens histone acetyltransferase MORF beta mRNA, alternative splice product, complete cds.
AB383868 - Synthetic construct DNA, clone: pF1KSDA0383, Homo sapiens MYST4 gene for MYST histone acetyltransferase 4, complete cds, without stop codon, in Flexi system.
AB002381 - Homo sapiens mRNA for KIAA0383 gene.
BC150270 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone MGC:166868 IMAGE:9007238), complete cds.
LF333273 - JP 2014500723-A/140776: Polycomb-Associated Non-Coding RNAs.
MA568850 - JP 2018138019-A/140776: Polycomb-Associated Non-Coding RNAs.
LF333274 - JP 2014500723-A/140777: Polycomb-Associated Non-Coding RNAs.
MA568851 - JP 2018138019-A/140777: Polycomb-Associated Non-Coding RNAs.
LF333377 - JP 2014500723-A/140880: Polycomb-Associated Non-Coding RNAs.
MA568954 - JP 2018138019-A/140880: Polycomb-Associated Non-Coding RNAs.
LF333379 - JP 2014500723-A/140882: Polycomb-Associated Non-Coding RNAs.
MA568956 - JP 2018138019-A/140882: Polycomb-Associated Non-Coding RNAs.
LF333381 - JP 2014500723-A/140884: Polycomb-Associated Non-Coding RNAs.
MA568958 - JP 2018138019-A/140884: Polycomb-Associated Non-Coding RNAs.
LF333383 - JP 2014500723-A/140886: Polycomb-Associated Non-Coding RNAs.
MA568960 - JP 2018138019-A/140886: Polycomb-Associated Non-Coding RNAs.
LF333385 - JP 2014500723-A/140888: Polycomb-Associated Non-Coding RNAs.
MA568962 - JP 2018138019-A/140888: Polycomb-Associated Non-Coding RNAs.
LF333386 - JP 2014500723-A/140889: Polycomb-Associated Non-Coding RNAs.
MA568963 - JP 2018138019-A/140889: Polycomb-Associated Non-Coding RNAs.
AL832065 - Homo sapiens mRNA; cDNA DKFZp313G1618 (from clone DKFZp313G1618).
LF333394 - JP 2014500723-A/140897: Polycomb-Associated Non-Coding RNAs.
MA568971 - JP 2018138019-A/140897: Polycomb-Associated Non-Coding RNAs.
LF333395 - JP 2014500723-A/140898: Polycomb-Associated Non-Coding RNAs.
MA568972 - JP 2018138019-A/140898: Polycomb-Associated Non-Coding RNAs.
LF333397 - JP 2014500723-A/140900: Polycomb-Associated Non-Coding RNAs.
MA568974 - JP 2018138019-A/140900: Polycomb-Associated Non-Coding RNAs.
LF333402 - JP 2014500723-A/140905: Polycomb-Associated Non-Coding RNAs.
MA568979 - JP 2018138019-A/140905: Polycomb-Associated Non-Coding RNAs.
LF333405 - JP 2014500723-A/140908: Polycomb-Associated Non-Coding RNAs.
MA568982 - JP 2018138019-A/140908: Polycomb-Associated Non-Coding RNAs.
LF209958 - JP 2014500723-A/17461: Polycomb-Associated Non-Coding RNAs.
MA445535 - JP 2018138019-A/17461: Polycomb-Associated Non-Coding RNAs.
LF333432 - JP 2014500723-A/140935: Polycomb-Associated Non-Coding RNAs.
MA569009 - JP 2018138019-A/140935: Polycomb-Associated Non-Coding RNAs.
LF333433 - JP 2014500723-A/140936: Polycomb-Associated Non-Coding RNAs.
MA569010 - JP 2018138019-A/140936: Polycomb-Associated Non-Coding RNAs.
LF333435 - JP 2014500723-A/140938: Polycomb-Associated Non-Coding RNAs.
MA569012 - JP 2018138019-A/140938: Polycomb-Associated Non-Coding RNAs.
LF333436 - JP 2014500723-A/140939: Polycomb-Associated Non-Coding RNAs.
MA569013 - JP 2018138019-A/140939: Polycomb-Associated Non-Coding RNAs.
LF333438 - JP 2014500723-A/140941: Polycomb-Associated Non-Coding RNAs.
MA569015 - JP 2018138019-A/140941: Polycomb-Associated Non-Coding RNAs.
LF333440 - JP 2014500723-A/140943: Polycomb-Associated Non-Coding RNAs.
MA569017 - JP 2018138019-A/140943: Polycomb-Associated Non-Coding RNAs.
JD065593 - Sequence 46617 from Patent EP1572962.
JD178294 - Sequence 159318 from Patent EP1572962.
LF333441 - JP 2014500723-A/140944: Polycomb-Associated Non-Coding RNAs.
MA569018 - JP 2018138019-A/140944: Polycomb-Associated Non-Coding RNAs.
LF333445 - JP 2014500723-A/140948: Polycomb-Associated Non-Coding RNAs.
MA569022 - JP 2018138019-A/140948: Polycomb-Associated Non-Coding RNAs.
AJ299261 - Homo sapiens partial mRNA for MORF/CBP chimaeric fusion protein.
BC021128 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone IMAGE:4550526), partial cds.
LF333446 - JP 2014500723-A/140949: Polycomb-Associated Non-Coding RNAs.
MA569023 - JP 2018138019-A/140949: Polycomb-Associated Non-Coding RNAs.
AJ299262 - Homo sapiens partial mRNA for CBP/MORF chimaeric fusion protein.
LF333451 - JP 2014500723-A/140954: Polycomb-Associated Non-Coding RNAs.
MA569028 - JP 2018138019-A/140954: Polycomb-Associated Non-Coding RNAs.
LF333452 - JP 2014500723-A/140955: Polycomb-Associated Non-Coding RNAs.
MA569029 - JP 2018138019-A/140955: Polycomb-Associated Non-Coding RNAs.
LF333453 - JP 2014500723-A/140956: Polycomb-Associated Non-Coding RNAs.
MA569030 - JP 2018138019-A/140956: Polycomb-Associated Non-Coding RNAs.
LF333454 - JP 2014500723-A/140957: Polycomb-Associated Non-Coding RNAs.
MA569031 - JP 2018138019-A/140957: Polycomb-Associated Non-Coding RNAs.
LF333455 - JP 2014500723-A/140958: Polycomb-Associated Non-Coding RNAs.
MA569032 - JP 2018138019-A/140958: Polycomb-Associated Non-Coding RNAs.
LF333458 - JP 2014500723-A/140961: Polycomb-Associated Non-Coding RNAs.
MA569035 - JP 2018138019-A/140961: Polycomb-Associated Non-Coding RNAs.
LF333459 - JP 2014500723-A/140962: Polycomb-Associated Non-Coding RNAs.
MA569036 - JP 2018138019-A/140962: Polycomb-Associated Non-Coding RNAs.
LF333460 - JP 2014500723-A/140963: Polycomb-Associated Non-Coding RNAs.
MA569037 - JP 2018138019-A/140963: Polycomb-Associated Non-Coding RNAs.
LF333462 - JP 2014500723-A/140965: Polycomb-Associated Non-Coding RNAs.
MA569039 - JP 2018138019-A/140965: Polycomb-Associated Non-Coding RNAs.
LF333465 - JP 2014500723-A/140968: Polycomb-Associated Non-Coding RNAs.
MA569042 - JP 2018138019-A/140968: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WYB5 (Reactome details) participates in the following event(s):

R-HSA-3318486 KAT6A, KAT6B-containing ING5 complexes acetylate replicative histone H3
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: KAT6B_HUMAN, KIAA0383, MORF, MOZ2, MYST4, NM_001370136, O15087, Q86Y05, Q8WU81, Q8WYB5, Q9UKW2, Q9UKW3, Q9UKX0, uc285iai.1
UCSC ID: uc285iai.1
RefSeq Accession: NM_001370136
Protein: Q8WYB5 (aka KAT6B_HUMAN)
CCDS: CCDS7345.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KAT6B:
kat6b-dis (KAT6B Disorders)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.