Citron Rho-Interacting Serine/Threonine Kinase

Alternative Names

  • CIT
  • Serine/Threonine Protein Kinase 21
  • STK21
  • Citron Rho-Interacting Kinase
  • CRIK
  • Rho-Interacting Serine/Threonine Kinase
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OMIM Number

605629

NCBI Gene ID

11113

Uniprot ID

O14578

Length

191,530 bases

No. of Exons

50

No. of isoforms

4

Protein Name

Citron Rho-interacting kinase

Molecular Mass

231431 Da

Amino Acid Count

2027

Genomic Location

chr12:119,685,790-119,877,319

Gene Map Locus
12q24.23

Description

The CIT gene encodes a kinase that catalyzes the phosphorylation of serine and threonine residues in proteins.  The CIT protein localizes to the cleavage furrow and midbody of mitotic cells where it is needed for the positive regulation of cell cytokinesis.  It is also required for the regulation of actin polymerization and depolymerization. Multiple isoforms of the CIT protein exist due to alternative splicing.  The gene is found to be overexpressed in the frontal cortex and basal ganglia of the brain.

By playing a role in the generation of neurons and the neuron apoptotic process, CIT is involved in the development of the central nervous system.  The gene is hence associated with Microcephaly 17, Primary, Autosomal Recessive (MCPH17), a congenital neurologic disorder characterized by reduced head circumference, facial dysmorphia, delayed psychomotor development, intellectual disability, axial hypotonia, spasticity and a failure to thrive. Homozygous mutations in the CIT gene are associated with MCPH17.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001206999.1:c.1111+1G>AEgyptNC_000012.12:g.119822819C>TPathogenicPathogenicMicrocephaly 17, Primary, Autosomal RecessiveNG_029792.1:g.59473G>A; NM_001206999.1:c.1111+1G>A879255522252992
NM_001206999.2:c.29_38delUnited Arab EmiratesNC_000012.12:g.119876134_119876143delPathogenicPathogenicMicrocephaly 17, Primary, Autosomal RecessiveNG_029792.1:g.6152_6161del; NM_001206999.2:c.29_38del; NP_001193928.1:p.Asn10MetfsTer15879253817221283
NM_001206999.2:c.317G>TEgyptNC_000012.12:g.119857620C>APathogenicPathogenicMicrocephaly 17, Primary, Autosomal RecessiveNG_029792.1:g.24672G>T; NM_001206999.2:c.317G>T; NP_001193928.1:p.Gly106Val886037892254134
NM_001206999.2:c.376A>CEgyptNC_000012.12:g.119857561T>GPathogenicPathogenicMicrocephaly 17, Primary, Autosomal RecessiveNG_029792.1:g.24731A>C; NM_001206999.2:c.376A>C; NP_001193928.1:p.Lys126Gln886037893254135
NM_001206999.2:c.753+3A>TSaudi ArabiaNC_000012.12:g.119832768T>APathogenicPathogenicMicrocephaly 17, Primary, Autosomal RecessiveNG_029792.1:g.49524A>T; NM_001206999.2:c.753+3A>T886037895254139
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