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Aliases for CSPP1 Gene

Aliases for CSPP1 Gene

  • Centrosome And Spindle Pole Associated Protein 1 2 3
  • CSPP 3 4 6
  • JBTS21 3 6
  • Centrosome And Spindle Pole-Associated Protein 1 3

External Ids for CSPP1 Gene

Previous GeneCards Identifiers for CSPP1 Gene

  • GC08P068141
  • GC08P067976
  • GC08P063469

Summaries for CSPP1 Gene

Entrez Gene Summary for CSPP1 Gene

  • 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]

GeneCards Summary for CSPP1 Gene

CSPP1 (Centrosome And Spindle Pole Associated Protein 1) is a Protein Coding gene. Diseases associated with CSPP1 include joubert syndrome 21 and joubert syndrome with jeune asphyxiating thoracic dystrophy.

UniProtKB/Swiss-Prot for CSPP1 Gene

  • May play a role in cell-cycle-dependent microtubule organization.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSPP1 Gene

Genomics for CSPP1 Gene

Regulatory Elements for CSPP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CSPP1 Gene

67,055,392 bp from pter
67,196,614 bp from pter
141,223 bases
Plus strand

Genomic View for CSPP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSPP1 Gene

Proteins for CSPP1 Gene

  • Protein details for CSPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosome and spindle pole-associated protein 1
    Protein Accession:
    Secondary Accessions:
    • A6ND63
    • Q70F00
    • Q8TBC1

    Protein attributes for CSPP1 Gene

    1256 amino acids
    Molecular mass:
    145522 Da
    Quaternary structure:
    • Interacts with PLEKHG6.
    • Sequence=AAH22867.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CSPP1 Gene


neXtProt entry for CSPP1 Gene

Proteomics data for CSPP1 Gene at MOPED

Post-translational modifications for CSPP1 Gene

  • Phosphorylated. Phosphorylation increases in colcemide-treated cells.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CSPP1 Gene

No data available for DME Specific Peptides for CSPP1 Gene

Domains for CSPP1 Gene

Protein Domains for CSPP1 Gene


Suggested Antigen Peptide Sequences for CSPP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CSPP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CSPP1 Gene

Function for CSPP1 Gene

Molecular function for CSPP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cell-cycle-dependent microtubule organization.

Gene Ontology (GO) - Molecular Function for CSPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CSPP1: view

Phenotypes for CSPP1 Gene

GenomeRNAi human phenotypes for CSPP1:
genes like me logo Genes that share phenotypes with CSPP1: view

Animal Model Products

miRNA for CSPP1 Gene

miRTarBase miRNAs that target CSPP1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSPP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CSPP1 Gene

Localization for CSPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSPP1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with mitotic spindles.

Subcellular locations from

Jensen Localization Image for CSPP1 Gene COMPARTMENTS Subcellular localization image for CSPP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CSPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 19129481
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005819 spindle IDA 19129481
genes like me logo Genes that share ontologies with CSPP1: view

Pathways for CSPP1 Gene

SuperPathways for CSPP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032467 positive regulation of cytokinesis IMP 19129481
GO:0051781 positive regulation of cell division IMP 19129481
genes like me logo Genes that share ontologies with CSPP1: view

No data available for Pathways by source for CSPP1 Gene

Transcripts for CSPP1 Gene

Unigene Clusters for CSPP1 Gene

Centrosome and spindle pole associated protein 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSPP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSPP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: - -
SP6: -

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27
SP4: -

Relevant External Links for CSPP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CSPP1 Gene

mRNA expression in normal human tissues for CSPP1 Gene

Protein differential expression in normal tissues for CSPP1 Gene

This gene is overexpressed in Stomach (57.7) and Breast (7.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CSPP1 Gene

SOURCE GeneReport for Unigene cluster for CSPP1 Gene Hs.370147

mRNA Expression by UniProt/SwissProt for CSPP1 Gene

Tissue specificity: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis.
genes like me logo Genes that share expressions with CSPP1: view

Expression partners for CSPP1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CSPP1 Gene

Orthologs for CSPP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSPP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CSPP1 35
  • 88.94 (n)
  • 85.69 (a)
CSPP1 36
  • 82 (a)
(Canis familiaris)
Mammalia CSPP1 35
  • 90.93 (n)
  • 87.57 (a)
CSPP1 36
  • 85 (a)
(Mus musculus)
Mammalia Cspp1 35
  • 83.42 (n)
  • 79.21 (a)
Cspp1 16
Cspp1 36
  • 77 (a)
(Pan troglodytes)
Mammalia CSPP1 35
  • 96.59 (n)
  • 95.71 (a)
CSPP1 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Cspp1 35
  • 82.49 (n)
  • 77.63 (a)
(Monodelphis domestica)
Mammalia CSPP1 36
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia CSPP1 36
  • 43 (a)
(Gallus gallus)
Aves CSPP1 35
  • 67.93 (n)
  • 59.76 (a)
CSPP1 36
  • 53 (a)
(Anolis carolinensis)
Reptilia CSPP1 36
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cspp1 35
  • 60.85 (n)
  • 54.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4386 35
(Danio rerio)
Actinopterygii si:dkey-97a13.9 35
  • 55.33 (n)
  • 47.17 (a)
CSPP1 36
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
-- 36
  • 33 (a)
Species with no ortholog for CSPP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSPP1 Gene

Gene Tree for CSPP1 (if available)
Gene Tree for CSPP1 (if available)

Paralogs for CSPP1 Gene

(16) SIMAP similar genes for CSPP1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CSPP1: view

No data available for Paralogs for CSPP1 Gene

Variants for CSPP1 Gene

Sequence variations from dbSNP and Humsavar for CSPP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs716891 -- 67,142,344(+) GATTA(A/G)CAGGA intron-variant
rs1064130 -- 67,158,535(+) ACAGA(A/G)GGCAC missense, reference, downstream-variant-500B
rs1141180 -- 67,159,048(+) aagca(C/G)aaaga missense, reference
rs1141181 -- 67,159,059(+) aagaa(A/G)aaaaa synonymous-codon, reference
rs1982521 -- 67,112,441(+) CATAC(A/T)TGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSPP1 Gene

Variant ID Type Subtype PubMed ID
nsv890975 CNV Loss 21882294
nsv438063 CNV Loss 16468122
esv2737120 CNV Deletion 23290073
esv2197789 CNV Deletion 18987734
esv2675478 CNV Deletion 23128226

Relevant External Links for CSPP1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSPP1 Gene

Disorders for CSPP1 Gene

(1) OMIM Diseases for CSPP1 Gene (611654)


  • 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:0000269 PubMed:24360803, ECO:0000269 PubMed:24360807, ECO:0000269 PubMed:24360808}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CSPP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CSPP1: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for CSPP1 Gene

Publications for CSPP1 Gene

  1. Identification of a novel centrosome/microtubule-associated coiled- coil protein involved in cell-cycle progression and spindle organization. (PMID: 15580290) Patzke S. … Aasheim H.-C. (Oncogene 2005) 2 3 4 23
  2. CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization. (PMID: 16826565) Patzke S. … Aasheim H.-C. (J. Cell. Physiol. 2006) 3 4 23
  3. Mutations in CSPP1 Lead to Classical Joubert Syndrome. (PMID: 24360807) Akizu N. … Gleeson J.G. (Am. J. Hum. Genet. 2014) 2 3 4
  4. Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy. (PMID: 24360808) Tuz K. … Ferland R.J. (Am. J. Hum. Genet. 2014) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for CSPP1 Gene

Sources for CSPP1 Gene

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