2. Gene
  3. CEP250 - centrosomal protein 250 Gene

CEP250 - centrosomal protein 250 Gene

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

中文名称：中心体蛋白 250

种属: Homo sapiens

同用名: CEP2; CNAP1; C-NAP1; CRDHL2

基因 ID: 11190 | 基因类型: protein coding

关于 CEP250

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,455,165-35,519,280 (from NCBI)

This gene has 14 transcripts (splice variants), 327 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.5), spleen (RPKM 5.2) and 24 other tissues.

功能概要

该基因编码细胞周期间期中心粒-中心粒凝聚所需的核心中心体蛋白。当亲本中心粒在有丝分裂开始时分离时，编码的蛋白质从中心体解离。该蛋白与 NIMA 相关激酶 2 结合并被其磷酸化，后者也与中心体相关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

CEP250 基因产物(2)

mRNA Protein Name
NM_001318219.1 NP_001305148.1 centrosome-associated protein CEP250 isoform 2
NM_007186.6 NP_009117.2 centrosome-associated protein CEP250 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
9647649 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
24554434 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in centriole-centriole cohesion IMP
IMP: 通过突变表型推断
11076968 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
28005958 GOA
involved in mitotic cell cycle IDA
IDA: 通过直接分析推断
12140259 GOA
involved in non-motile cilium assembly IMP
IMP: 通过突变表型推断
23789104 GOA
involved in positive regulation of protein localization to centrosome IMP
IMP: 通过突变表型推断
27623382 GOA
involved in protein localization IMP
IMP: 通过突变表型推断
18851962 GOA
involved in protein localization to centrosome IMP
IMP: 通过突变表型推断
30404835 GOA
involved in protein localization to organelle IMP
IMP: 通过突变表型推断
24554434 GOA
involved in regulation of centriole-centriole cohesion IDA
IDA: 通过直接分析推断
9647649 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with centriole IDA
IDA: 通过直接分析推断
11076968 GOA
located in centriole IDA
IDA: 通过直接分析推断
18851962 GOA
located in centrosome IDA
IDA: 通过直接分析推断
9647649 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
10880350 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

CEP250 蛋白结构

Rootletin

Rootletin: Ciliary rootlet component, centrosome cohesion (40 - 215)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2442 a.a.
蛋白主名 其他名称

centrosome-associated protein CEP250

250 kDa centrosomal protein

CEP250 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
CEP250 Q9BV73 SIK2 Homo sapiens Q9H0K1
Pull Down
20708153
种属内
CEP250 Q9BV73 SIK2 Homo sapiens Q9H0K1
Anti Bait CoIP
20708153
种属内
CEP250 Q9BV73 SIK2 Homo sapiens Q9H0K1
Confocal
20708153
种属间
CEP250 Q9BV73 Axin2 Mus musculus O88566
Anti Tag CoIP
20300119
种属间
CEP250 Q9BV73 Axin2 Mus musculus O88566
IF
20300119
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
Cone-Rod Dystrophy And Hearing Loss 2

CRDHL2

Dystrophy, Cone-Rod, And Hearing Loss, Type 2
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Spondylometaphyseal Dysplasia, Axial

Axial Spondylometaphyseal Dysplasia

SMDAX

Axial Smd

Smd Axial

Smd, Axial

Spondylometaphyseal Dysplasia Axial Type

Dysplasia, Spondylometaphyseal, Axial
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome

PHARC

Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Peripheral Neuropathy, Fiskerstrand Type

Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Balantidiasis

Balantidiosis

Human Balantidiasis

B Coli Infection

Balantidium Coli Infection

Large-Intestinal Infection With Balantidium Coli

Ciliary Dysentery
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02510 CEP250 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CEP250 VGNC VGNC:39124
Macaca mulatta CEP250 VGNC VGNC:71010
Felis catus CEP250 VGNC VGNC:80062
Mus musculus CEP250 MGD MGI:108084
Rattus norvegicus CEP250 RGD RGD:1562262
Bos taurus CEP250 VGNC VGNC:27200
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