CSPP1 - centrosome and spindle pole associated protein 1 Gene

Homo sapiens

Also known as CSPP; CSPP-L; JBTS21

Gene ID: 79848 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03256	CSPP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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