1. Gene
  2. TAOK1 - TAO kinase 1 Gene

TAOK1 - TAO kinase 1 Gene

Homo sapiens

Also known as DDIB; PSK2; TAO1; KFC-B; MARKK; PSK-2; hKFC-B; hTAOK1; MAP3K16

Gene ID: 57551 | Gene type: protein coding

About TAOK1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,390,363-29,551,903 (from NCBI)

This gene has 6 transcripts (splice variants), 278 orthologues, 35 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 14.1), thyroid (RPKM 11.3) and 25 other tissues.

Summary

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of JNK cascade. Located in microtubule Cytoskeleton and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TAOK1 Products(2)

mRNA Protein Name
NM_020791.4 NP_065842.1 serine/threonine-protein kinase TAO1 isoform 1
NM_025142.1 NP_079418.1 serine/threonine-protein kinase TAO1 isoform 2

TAOK1 Protein Structure

Pkinase

Pkinase: Protein kinase domain (29 - 280)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1001 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein kinase TAO1

MARK Kinase

Related Diseases

Diseases Alias
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities

DDIB

Autosomal Dominant Non-Syndromic Intellectual Disability
Macroglossia

Congenital Macroglossia

Enlarged Tongue

Giant Tongue

Acquired Macroglossia Nos

Congenital Hypertrophy Of Tongue

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Syndromic X-Linked Intellectual Disability Lubs Type

Lubs X-Linked Mental Retardation Syndrome

Mecp2 Duplication Syndrome

Mental Retardation, X-Linked, Syndromic, Lubs Type

Mental Retardation, X-Linked, With Recurrent Respiratory Infections

Mrxsl

X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome

Mental Retardation, X-Linked Syndromic, Lubs Type

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 TAOK1 VGNC VGNC:97653
Macaca mulatta TAOK1 VGNC VGNC:81591
Bos taurus TAOK1 VGNC VGNC:35595
Mus musculus TAOK1 MGD MGI:1914490
Rattus norvegicus TAOK1 RGD RGD:708455
Canis familiaris TAOK1 VGNC VGNC:47102
Others TAOK1 NCBI