1. Gene
  2. CEP97 - centrosomal protein 97 Gene

CEP97 - centrosomal protein 97 Gene

中文名称:中心体蛋白 97

种属: Homo sapiens

同用名: LRRIQ2; 2810403B08Rik

基因 ID: 79598 | 基因类型: protein coding

关于 CEP97

Cytogenetic location: 3q12.3 Genomic coordinates (GRCh38): 3:101,724,614-101,770,562 (from NCBI)

This gene has 16 transcripts (splice variants), 219 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 4.1), brain (RPKM 4.0) and 24 other tissues.

功能概要

预测启用钙调蛋白结合活性。参与纤毛组装的负调节和有丝分裂纺锤体组装的调节。位于中心粒卫星和胞质溶胶中。部分含蛋白质复合物。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable Calmodulin binding activity. Involved in negative regulation of cilium assembly and regulation of mitotic spindle assembly. Located in centriolar satellite and cytosol. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

CEP97 基因产物(4)

mRNA Protein Name
NM_001303401.2 NP_001290330.1 centrosomal protein of 97 kDa isoform 2
NM_001410784.1 NP_001397713.1 centrosomal protein of 97 kDa isoform 3
NM_001410785.1 NP_001397714.1 centrosomal protein of 97 kDa isoform 4
NM_024548.4 NP_078824.2 centrosomal protein of 97 kDa 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
17719545 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cilium assembly IMP
IMP: 通过突变表型推断
17719545 GOA
involved in regulation of mitotic spindle assembly IMP
IMP: 通过突变表型推断
17719545 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
30375385 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
24421332 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

CEP97 蛋白结构

LRR_9

LRR_9: Leucine-rich repeat (107 - 255)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 865 a.a.
蛋白主名 其他名称

centrosomal protein of 97 kDa

leucine-rich repeat and IQ domain-containing protein 2

CEP97 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
CEP97 Q8IW35 CCP110 Homo sapiens O43303 18694559
种属内
CEP97 Q8IW35 CCP110 Homo sapiens O43303 21620453
种属内
CEP97 Q8IW35 CCP110 Homo sapiens O43303 17719545
种属内
CEP97 Q8IW35 CCP110 Homo sapiens O43303 22441691
种属内
CEP97 Q8IW35 CCP110 Homo sapiens O43303 17719545
种属内
CEP97 Q8IW35 ACTBL2 Homo sapiens Q562R1
TAP
27173435
种属内
CEP97 Q8IW35 KIF24 Homo sapiens Q5T7B8 21620453
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
Spinocerebellar Ataxia 11

Spinocerebellar Ataxia Type 11

SCA11

Spinocerebellar Ataxia-11

Ataxia, Spinocerebellar, Type 11

Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25

Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23

Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Joubert Syndrome 5

JBTS5

Joubert Syndrome, Type 5

Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

Senior-Loken Syndrome 1

Senior-Loken Syndrome

Renal Dysplasia And Retinal Aplasia

Renal-Retinal Syndrome

Loken-Senior Syndrome

Juvenile Nephronophthisis With Leber Amaurosis

SLSN1

Senior-Loken Syndrome-1

Loken Senior Syndrome

Senior Loken Syndrome

Renal Dysplasia Retinal Aplasia

Nephronophthisis With Retinal Dystrophy

Renal Dysplasia-Retinal Aplasia Syndrome

Slsn

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

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

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 Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Felis catus CEP97 VGNC VGNC:60790
Mus musculus CEP97 MGD MGI:1921451
Macaca mulatta CEP97 VGNC VGNC:71108
Rattus norvegicus CEP97 RGD RGD:1307400
Bos taurus CEP97 VGNC VGNC:52750
Canis familiaris CEP97 VGNC VGNC:53062