1. Gene
  2. CIT - citron rho-interacting serine/threonine kinase Gene

CIT - citron rho-interacting serine/threonine kinase Gene

中文名称:Citron rho 相互作用丝氨酸/苏氨酸激酶

种属: Homo sapiens

同用名: CITK; CRIK; STK21; MCPH17

基因 ID: 11113 | 基因类型: protein coding

关于 CIT

Cytogenetic location: 12q24.23 Genomic coordinates (GRCh38): 12:119,685,791-119,877,320 (from NCBI)

This gene has 40 transcripts (splice variants), 272 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 9.1), testis (RPKM 3.2) and 18 other tissues.

功能概要

该基因编码一种在细胞分裂中起作用的丝氨酸/苏氨酸蛋白激酶。与驱动蛋白 KIF14 一起,该蛋白定位于中央纺锤体和中体,并发挥促进有效胞质分裂的作用。这种蛋白质参与中枢神经系统发育。该基因的多态性与双相情感障碍和精神分裂症的风险有关。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 8 月]

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 基因产物(2)

mRNA Protein Name
NM_001206999.2 NP_001193928.1 citron Rho-interacting kinase isoform 1
NM_007174.3 NP_009105.1 citron Rho-interacting kinase isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables PDZ domain binding IDA
IDA: 通过直接分析推断
17474715 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16431929 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
30865227 GOA
enables protein serine/threonine kinase inhibitor activity IDA
IDA: 通过直接分析推断
30865227 GOA
enables scaffold protein binding IDA
IDA: 通过直接分析推断
17474715 GOA
enables transcription coactivator binding IPI
IPI: 通过物理相互作用推断
30865227 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic cytokinesis IMP
IMP: 通过突变表型推断
16236794 GOA
involved in negative regulation of hippo signaling IMP
IMP: 通过突变表型推断
30865227 GOA
involved in neuron apoptotic process IMP
IMP: 通过突变表型推断
27453578 GOA
involved in positive regulation of cytokinesis IMP
IMP: 通过突变表型推断
16431929 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
30865227 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CIT 蛋白结构

Pkinase

Pkinase: Protein kinase domain (98 - 360)

Pkinase_C

Pkinase_C: Protein kinase C terminal domain (379 - 422)

CNH

CNH: CNH domain (1601 - 1855)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2027 a.a.
蛋白主名 其他名称

citron Rho-interacting kinase

citron (rho-interacting, serine/threonine kinase 21)

关联疾病

疾病名称 别名
Microcephaly 17, Primary, Autosomal Recessive

MCPH17

Primary Autosomal Recessive Microcephaly 17

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Microcephaly 6, Primary, Autosomal Recessive

MCPH6

Primary Autosomal Recessive Microcephaly 6

Microcephaly, Primary Autosomal Recessive, 6

Microcephaly, Type 6, Primary, Autosomal Recessive

Cerebellar Hypoplasia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Microcephaly 5, Primary, Autosomal Recessive

MCPH5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CIT RGD RGD:70878
Bos taurus CIT VGNC VGNC:27375
Felis catus CIT VGNC VGNC:80432
Mus musculus CIT MGD MGI:105313
Macaca mulatta CIT VGNC VGNC:71226
Canis familiaris CIT VGNC VGNC:39282
Macaca fascicularis CIT NCBI NCBI:102134813
Others CIT NCBI