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Tau-tubulin kinase 2 (TTBK2, KIAA0847)

Function: 1) serine/threonine protein kinase 2) phosphorylates microtubule-assciated protein tau on Ser Structure: - belongs to the protein kinase superfamily, CK1 Ser/Thr protein kinase family - contains 1 protein kinase domain Alternative splicing: named isoforms=3 Pathology: - defects in TTBK2 are the cause of spinocerebellar ataxia type 11

Related

ubiquitin-like PHD & RING finger domain-containing protein (UHRF)

General

serine/threonine kinase

Properties

SIZE: entity length = 1244 aa MW = 137 kD STATE: active state MOTIF: kinase domain SITE: 21-284 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 27-35 ATP-binding site NAME: ATP-binding site SITE: 50-50 aspartate residue {D141} threonine-rich region {307-314} MOTIF: threonine residue (SEVERAL) Ser phosphorylation site {S786} serine-rich region {1150-1203} MOTIF: serine residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 611695 UniProt Q6IQ55 Pfam PF00069 Entrez Gene 146057 Kegg hsa:146057 ENZYME 2.7.11.1

References

  1. UniProt :accession Q6IQ55
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TTBK2