InnateDB Protein
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IDBP-24231.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CSPP1
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Protein Name
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centrosome and spindle pole associated protein 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000262210
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InnateDB Gene
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IDBG-24229 (CSPP1)
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Protein Structure
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Function |
May play a role in cell-cycle-dependent microtubule organization. {ECO:0000269PubMed:16826565}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole {ECO:0000250}. Note=Associated with mitotic spindles.
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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.
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Tissue Specificity |
Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis. {ECO:0000269PubMed:15580290, ECO:0000269PubMed:24360807}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q1MSJ5
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PhosphoSite |
PhosphoSite-Q1MSJ5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79848
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UniGene |
Hs.370147
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RefSeq |
NP_079066
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HUGO |
HGNC:26193
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OMIM |
611654
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CCDS |
CCDS43744
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HPRD |
07991
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IMGT |
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EMBL |
AC087359
AC109335
AJ583433
AK127108
AM156947
BC022867
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GenPept |
AAH22867
CAE47426
CAJ42307
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