Version 5.4
Homo sapiens Protein: CSPP1
Summary
InnateDB Protein IDBP-24231.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CSPP1
Protein Name centrosome and spindle pole associated protein 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000262210
InnateDB Gene IDBG-24229 (CSPP1)
Protein Structure
UniProt Annotation
Function May play a role in cell-cycle-dependent microtubule organization. {ECO:0000269PubMed:16826565}.
Subcellular Localization Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole {ECO:0000250}. Note=Associated with mitotic spindles.
Disease Associations Joubert syndrome 21 (JBTS21) [MIM:615636]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. {ECO:0000269PubMed:24360803, ECO:0000269PubMed:24360807, ECO:0000269PubMed:24360808}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis. {ECO:0000269PubMed:15580290, ECO:0000269PubMed:24360807}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0032467 positive regulation of cytokinesis
GO:0051781 positive regulation of cell division
Cellular Component
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005819 spindle
GO:0005874 microtubule
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q1MSJ5
PhosphoSite PhosphoSite-Q1MSJ5
TrEMBL
UniProt Splice Variant
Entrez Gene 79848
UniGene Hs.370147
RefSeq NP_079066
HUGO HGNC:26193
OMIM 611654
CCDS CCDS43744
HPRD 07991
IMGT
EMBL AC087359 AC109335 AJ583433 AK127108 AM156947 BC022867
GenPept AAH22867 CAE47426 CAJ42307

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca