CSPP1 - centrosome and spindle pole associated protein 1 Gene

Also Known as CSPP; CSPP-L; JBTS21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79848

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in positive regulation of cell division	IMP IMP: Inferred from mutant phenotype	19129481	GOA
involved in positive regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	19129481	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in spindle	IDA IDA: Inferred from direct assay	19129481	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	19129481	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CSPP1 Protein Structure

CCDC66

0
200
400
600
800
1000
1221 a.a.

Protein Preferred Names	Protein Names
centrosome and spindle pole-associated protein 1

CSPP1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P86826	CSPP1 Antibody (YA6519)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03256	CSPP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	CSPP1	NCBI