CSPP1

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]

Description

Centrosome and spindle pole associated protein 1

Tissue specificity

Low tissue specificity

Subcell location

Centriolar satellite, Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (67062417 - 67196778)

Ensembl ID

ENSG00000104218  (ver. 103.38)

Orthologs

Mouse Cspp1: ENSMUSG00000056763

UniProt

Q1MSJ5

neXtProt

NX_Q1MSJ5

Human splice variants
Mouse splice variants

Protein structure