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Aliases for CSPP1 Gene

Aliases for CSPP1 Gene

  • Centrosome And Spindle Pole Associated Protein 1 2 3 5
  • CSPP 3 4
  • JBTS21 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 Meckel Syndrome 1.

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

Enhancers for CSPP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CSPP1 on UCSC Golden Path with GeneCards custom track

Promoters for CSPP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CSPP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CSPP1 Gene

67,062,417 bp from pter
67,196,614 bp from pter
134,198 bases
Plus strand

Genomic View for CSPP1 Gene

Genes around CSPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Abcam antibodies for CSPP1

No data available for DME Specific Peptides for CSPP1 Gene

Domains & Families 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.
genes like me logo Genes that share phenotypes with CSPP1: view

Human Phenotype Ontology for CSPP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CSPP1 Gene

miRTarBase miRNAs that target CSPP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 4
cytosol 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CSPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IDA --
GO:0005819 spindle IDA 19129481
genes like me logo Genes that share ontologies with CSPP1: view

Pathways & Interactions 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
genes like me logo Genes that share ontologies with CSPP1: view

No data available for Pathways by source and SIGNOR curated interactions for CSPP1 Gene

Drugs & Compounds for CSPP1 Gene

No Compound Related Data Available

Transcripts for CSPP1 Gene

Unigene Clusters for CSPP1 Gene

Centrosome and spindle pole associated protein 1:
Representative Sequences:

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 from HIPED for CSPP1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with CSPP1: view

Protein tissue co-expression partners for CSPP1 Gene

Primer 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
rs16933182 - 67,161,902(+) CATAC(A/G)TTCCT reference, missense
VAR_047014 -
rs2168542 -- 67,128,526(+) TAGAG(C/T)GAGAC intron-variant
rs2305673 -- 67,113,456(+) CCTTC(C/T)TTTTG intron-variant, upstream-variant-2KB
rs7830179 -- 67,070,384(+) catga(A/C)cccgg 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

Variation tolerance for CSPP1 Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.76; 83.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSPP1 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for CSPP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CSPP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 21
  • jbts21
meckel syndrome 1
  • meckel syndrome
cspp1-related joubert syndrome
  • joubert syndrome 21
joubert syndrome with jeune asphyxiating thoracic dystrophy
  • jbts with jatd
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CSPP1 in MalaCards View complete list of genes associated with diseases


  • 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CSPP1: view

No data available for 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 67
  2. Mutations in CSPP1 Lead to Classical Joubert Syndrome. (PMID: 24360807) Akizu N. … Gleeson J.G. (Am. J. Hum. Genet. 2014) 2 3
  3. Centrosome/spindle pole-associated protein regulates cytokinesis via promoting the recruitment of MyoGEF to the central spindle. (PMID: 19129481) Asiedu M. … Wei Q. (Mol. Biol. Cell 2009) 3 23
  4. 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 23
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3

Products for CSPP1 Gene

Sources for CSPP1 Gene