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This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
CIT (Citron Rho-Interacting Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with CIT include Microcephaly 17, Primary, Autosomal Recessive and Primary Autosomal Recessive Microcephaly. Among its related pathways are Sweet Taste Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDC42BPA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IBA,ISS | 9792683 |
GO:0005515 | protein binding | IPI | 16431929 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IBA | 21873635 |
GO:0015629 | actin cytoskeleton | IBA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Rho GTPases | ||
2 | ERK Signaling |
Rho Family GTPases
.61
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3 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
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4 | Sweet Taste Signaling |
Sperm Motility
.37
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5 | Semaphorin interactions |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000278 | mitotic cell cycle | ISS | 11086988 |
GO:0000281 | mitotic cytokinesis | IBA,IMP | 16236794 |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Citric acid | Approved, Vet_approved | Nutra | Activator, Agonist, Target | 1509 | ||
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2588 | ||
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 | ||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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ADP |
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Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
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Diglycerides Group A |
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Diglycerides Group B |
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Diglycerides Group C |
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Diglycerides Group D |
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ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 24 | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34a | · | 34b | ^ | 35a | · | 35b | · | 35c | ^ | 36a | · | 36b | ^ | 37 | ^ | 38a | · | 38b | ^ | 39a | · | 39b | · | 39c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 40a | · | 40b | ^ | 41 | ^ | 42 | ^ | 43a | · | 43b | ^ | 44 | ^ | 45 | ^ | 46a | · | 46b | · | 46c | ^ | 47 | ^ | 48a | · | 48b | · | 48c | · | 48d | ^ | 49 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CIT 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CIT 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CIT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CIT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cit 30 |
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Mouse (Mus musculus) |
Mammalia | Cit 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CIT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CIT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CIT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cit 30 |
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Str.11915 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | CIT (2 of 2) 31 |
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OneToMany | |
CIT (1 of 2) 31 |
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OneToMany | |||
LOC100329792 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006932 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | sti 30 31 |
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OneToOne | |
CG10522 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | F59A6.5 32 |
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SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636239 | Uncertain Significance: Microcephaly 17, primary, autosomal recessive | 119,834,093(-) | C/T | MISSENSE_VARIANT | |
636240 | Conflicting Interpretations: Microcephaly 17, primary, autosomal recessive; not provided | 119,728,602(-) | T/C | MISSENSE_VARIANT | |
689692 | Uncertain Significance: Marfanoid habitus and intellectual disability | 119,710,275(-) | G/T | MISSENSE_VARIANT | |
708409 | Benign: not provided | 119,776,369(-) | T/C | MISSENSE_VARIANT | |
709470 | Benign: not provided | 119,718,360(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1316430 | CNV | insertion | 17803354 |
esv3630913 | CNV | loss | 21293372 |
esv3630914 | CNV | loss | 21293372 |
nsv475444 | CNV | novel sequence insertion | 20440878 |
nsv476317 | CNV | novel sequence insertion | 20440878 |
nsv510575 | CNV | deletion | 20534489 |
nsv560397 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 17, primary, autosomal recessive |
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primary autosomal recessive microcephaly |
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microcephaly |
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primary microcephaly |
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microlissencephaly |
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