2. Gene
  3. CSPP1 - centrosome and spindle pole associated protein 1 Gene

CSPP1 - centrosome and spindle pole associated protein 1 Gene

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

中文名称：中心体和纺锤体极相关蛋白 1

种属: Homo sapiens

同用名: CSPP; CSPP-L; JBTS21

基因 ID: 79848 | 基因类型: protein coding

关于 CSPP1

Cytogenetic location: 8q13.1-q13.2 Genomic coordinates (GRCh38): 8:67,064,368-67,196,614 (from NCBI)

This gene has 80 transcripts (splice variants), 208 orthologues and is associated with 6 phenotypes. Broad expression in testis (RPKM 7.4), kidney (RPKM 3.8) and 25 other tissues.

功能概要

该基因编码中心体和纺锤体极相关蛋白。编码的蛋白质在细胞周期进程和纺锤体组织中发挥作用，调节胞质分裂，与 Nephrocystin 8 相互作用，并且是纤毛形成所必需的。该基因的突变导致原发性纤毛异常和典型的 Joubert 综合征。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2014 年 4 月]

This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

CSPP1 基因产物(8)

mRNA Protein Name
NM_001291339.2 NP_001278268.1 centrosome and spindle pole-associated protein 1 isoform 2
NM_001363131.2 NP_001350060.1 centrosome and spindle pole-associated protein 1 isoform 3
NM_001363132.2 NP_001350061.1 centrosome and spindle pole-associated protein 1 isoform 4
NM_001363133.2 NP_001350062.1 centrosome and spindle pole-associated protein 1 isoform 5
NM_001364869.1 NP_001351798.1 centrosome and spindle pole-associated protein 1 isoform 6
NM_001364870.1 NP_001351799.1 centrosome and spindle pole-associated protein 1 isoform 7
NM_001382391.1 NP_001369320.1 centrosome and spindle pole-associated protein 1 isoform 8
NM_024790.6 NP_079066.5 centrosome and spindle pole-associated protein 1 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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell division IMP
IMP: 通过突变表型推断
19129481 GOA
involved in positive regulation of cytokinesis IMP
IMP: 通过突变表型推断
19129481 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
located in spindle IDA
IDA: 通过直接分析推断
19129481 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
19129481 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

CSPP1 蛋白结构

CCDC66

CCDC66: Coiled-coil domain-containing protein 66 (730 - 824)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1221 a.a.
蛋白主名 其他名称

centrosome and spindle pole-associated protein 1

CSPP1 抗体

目录号 产品名 应用 反应物种
HY-P86826 CSPP1 Antibody (YA6519) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy

Jbts With Jatd

Joubert Syndrome With Jatd
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
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
Joubert Syndrome 10

JBTS10

Joubert Syndrome, Type 10
Spondyloepimetaphyseal Dysplasia, X-Linked

X-Linked Spondyloepimetaphyseal Dysplasia

SEMDX

Semd, X-Linked

Semd X-Linked

Spondyloepimetaphyseal Dysplasia X-Linked

Spondylo-Epimetaphyseal Dysplasia
Joubert Syndrome 26

JBTS26
Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25
Coach Syndrome 1

Coach Syndrome

Joubert Syndrome With Congenital Hepatic Fibrosis

Gentile Syndrome

Joubert Syndrome With Hepatic Defect

Js-H

COACH1

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Laurin-Sandrow Syndrome

Sandrow Syndrome

Tetramelic Mirror-Image Polydactyly

Mirror-Image Polydactyly

Mirror Hands And Feet With Nasal Defects

Tmip

LSS

Mip

Mirror Hands And Feets-Nasal Defects Syndrome

Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius

Miccor Hands And Feet With Nasal Defects

Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius

Fibula Ulna Duplication Tibia Radius Absence

Laurin Sandrow Syndrome

Duplication Of Fibula And Ulna With Absence Of Tibia And Radius

Segmental Laurin-Sandrow Syndrome

Laurin-Sandrow Syndrome, Segmental
Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
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

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-RS03256 CSPP1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CSPP1 VGNC VGNC:71587
Bos taurus CSPP1 VGNC VGNC:27771
Felis catus CSPP1 VGNC VGNC:61229
Canis familiaris CSPP1 VGNC VGNC:39672
Mus musculus CSPP1 MGD MGI:2681832
Rattus norvegicus CSPP1 RGD RGD:1307055
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