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  2. KAT8 - lysine acetyltransferase 8 Gene

KAT8 - lysine acetyltransferase 8 Gene

Homo sapiens

Also known as MOF; hMOF; MYST1; LIGOWS; ZC2HC8

Gene ID: 84148 | Gene type: protein coding

About KAT8

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,117,664-31,131,393 (from NCBI)

This gene has 8 transcripts (splice variants), 189 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 17.1), testis (RPKM 11.9) and 25 other tissues.

Summary

This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

KAT8 Products(2)

mRNA Protein Name
NM_032188.3 NP_115564.2 histone acetyltransferase KAT8 isoform 1
NM_182958.4 NP_892003.2 histone acetyltransferase KAT8 isoform 2

KAT8 Protein Structure

Tudor-knot

Tudor-knot: RNA binding activity-knot of a chromodomain (55 - 110)

MOZ_SAS

MOZ_SAS: MOZ/SAS family (232 - 417)

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  • 458 a.a.
Protein Preferred Names Protein Names

histone acetyltransferase KAT8

K(lysine) acetyltransferase 8

Related Diseases

Diseases Alias
Li-Ghorbani-Weisz-Hubshman Syndrome

LIGOWS

Li-Ghorgani-Weisz-Hubshman Syndrome

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Koolen-De Vries Syndrome

KDVS

17q21.31 Microdeletion Syndrome

Microdeletion 17q21.31 Syndrome

Chromosome 17q21.31 Deletion Syndrome

Koolen De Vries Syndrome

Kansl1-Related Intellectual Disability Syndrome

Chromosome 17q21.31 Microdeletion Syndrome

Monosomy 17q21.31

17q21.31 Deletion Syndrome

Koolen Syndrome

Del(17)(Q21.31)

Capgras Syndrome

Capgras Delusion Theory

Haverhill Fever

Streptobacillosis

Streptobacillary Rat-Bite Fever

Streptobacillary Fever

Rat-Bite Fever Due To Streptobacillus Moniliformis

Erythema Arthriticum Epidemicum

Epidemic Arthritic Erythema

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus KAT8 VGNC VGNC:63027
Rattus norvegicus KAT8 RGD RGD:1311512
Mus musculus KAT8 MGD MGI:1915023
Macaca mulatta KAT8 VGNC VGNC:99520
Bos taurus KAT8 VGNC VGNC:30404
Canis familiaris KAT8 VGNC VGNC:42215
Others KAT8 NCBI