2. Gene
  3. CEP170 - centrosomal protein 170 Gene

CEP170 - centrosomal protein 170 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：中心体蛋白 170

种属: Homo sapiens

同用名: KAB; FAM68A; KIAA0470

基因 ID: 9859 | 基因类型: protein coding

关于 CEP170

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:243,124,428-243,255,785 (from NCBI)

This gene has 25 transcripts (splice variants), 1 gene allele, 231 orthologues and 1 paralogue. Broad expression in brain (RPKM 12.9), testis (RPKM 11.4) and 23 other tissues.

功能概要

该基因的产物是中心体的一个组成部分，中心体是一种非膜细胞器，在动物细胞中起着主要微管组织中心的作用。在间期，编码的蛋白质定位于成熟中心粒的亚远端附属物，这些附属物是基于微管的结构，被认为有助于组织中心体。在有丝分裂期间，蛋白质与中心体附近的纺锤体微管结合。该蛋白与 polo 样激酶 1 相互作用并被其磷酸化，并在维持微管组织和细胞形态方面发挥作用。人类基因组包含一个假定的转录假基因。已经发现了该基因的几个可变剪接的转录本变体，但尚未确定其中一些变体的全长性质。[RefSeq 提供，2008 年 7 月]

The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

CEP170 基因产物(3)

mRNA Protein Name
NM_001042404.2 NP_001035863.1 centrosomal protein of 170 kDa isoform beta
NM_001042405.2 NP_001035864.1 centrosomal protein of 170 kDa isoform gamma
NM_014812.3 NP_055627.2 centrosomal protein of 170 kDa isoform alpha
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15161933 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of centriolar subdistal appendage IDA
IDA: 通过直接分析推断
23213374 GOA
located in centriole IDA
IDA: 通过直接分析推断
23213374 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 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

CEP170 蛋白结构

FHA

FHA: FHA domain (24 - 90)

CEP170_C

CEP170_C: CEP170 C-terminus (807 - 1507)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1584 a.a.
蛋白主名 其他名称

centrosomal protein of 170 kDa

KARP-1-binding protein

CEP170 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CEP170 Q5SW79 CCDC61 Homo sapiens Q9Y6R9
IF
31789463
种属内
CEP170 Q5SW79 CCDC61 Homo sapiens Q9Y6R9
Anti Tag CoIP
31789463
种属内
CEP170 Q5SW79 KIF2A Homo sapiens O00139
BioID
26638075
种属内
CEP170 Q5SW79 KIF2A Homo sapiens O00139
Anti Tag CoIP
35271311
种属内
CEP170 Q5SW79 CCDC68 Homo sapiens Q9H2F9
Pull Down
28422092
种属内
CEP170 Q5SW79 YWHAZ Homo sapiens P63104
Pull Down
15161933
种属内
CEP170 Q5SW79 CCDC120 Homo sapiens Q96HB5
Anti Tag CoIP
28422092
种属内
CEP170 Q5SW79 CCDC120 Homo sapiens Q96HB5
Pull Down
28422092
种属内
CEP170 Q5SW79 CCDC120 Homo sapiens Q96HB5
Confocal
28422092
种属间
CEP170 Q5SW79 vpr Human immunodeficiency virus P12520
Pull Down
22190034
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Anus Benign Neoplasm

Anal Neoplasm

Anal Tumors

Neoplasm Of Anus

Anus Neoplasms
Primary Microcephaly

True Microcephaly

Microcephaly, Primary
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

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02505 CEP170 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS02506 CEP170B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CEP170 RGD RGD:621868
Mus musculus CEP170 MGD MGI:1918348
Felis catus CEP170 VGNC VGNC:97379
Canis familiaris CEP170 VGNC VGNC:39122
Macaca mulatta CEP170 VGNC VGNC:97751
Bos taurus CEP170 VGNC VGNC:27197
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