Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CSPP1 Gene

Aliases for CSPP1 Gene

  • Centrosome And Spindle Pole Associated Protein 1 2 3 5
  • CSPP 3 4
  • Centrosome And Spindle Pole-Associated Protein 1 3
  • 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, Type 1.

UniProtKB/Swiss-Prot for CSPP1 Gene

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

Additional gene information for CSPP1 Gene

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

Genomics for CSPP1 Gene

GeneHancer (GH) Regulatory Elements for CSPP1 Gene

Promoters and enhancers for CSPP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J067060 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.1 1064 5.4 MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 CSPP1 COPS5 ARFGEF1 C8orf44 TCF24
GH08J067061 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.7 -1697 0.1 MEIS2 PKNOX1 HMBOX1 CSPP1 PPP1R42 COPS5
GH08J066112 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 12.3 -948.2 -948237 3.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 TRY-GTA5-1 TRY-GTA5-2 PIR37716 PIR59286 TRIM55 GC08P066152 GC08P066148 C8orf44 CSPP1 MCMDC2
GH08J067028 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.6 -33.4 -33445 1.9 PKNOX1 ATF1 ARID4B SIN3A FEZF1 BRCA1 GLIS2 NCOA1 REST KAT8 PPP1R42 LOC105375885 CSPP1 COPS5 SNHG6 SNORD87
GH08J066774 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10 -287.1 -287136 2.2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF213 ZNF143 SGK3 CSPP1 COPS5 C8orf44 PTTG3P GC08M066750 C8orf44-SGK3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSPP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSPP1 gene promoter:
  • HFH-3
  • FOXI1
  • NRF-2
  • POU2F1a
  • POU2F1
  • aMEF-2
  • MEF-2A
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for CSPP1 Gene

Genomic Locations for CSPP1 Gene
134,198 bases
Plus strand
134,189 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

Post-translational modifications for CSPP1 Gene

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

No data available for DME Specific Peptides for CSPP1 Gene

Domains & Families for CSPP1 Gene

Gene Families for CSPP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for CSPP1 Gene

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

CRISPR Products

miRNA for CSPP1 Gene

miRTarBase miRNAs that target CSPP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSPP1

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSPP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
plasma membrane 1
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 19129481
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IDA,IEA 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
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 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSPP1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CSPP1 Gene

Protein tissue co-expression partners for CSPP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CSPP1 Gene:


SOURCE GeneReport for Unigene cluster for CSPP1 Gene:


mRNA Expression by UniProt/SwissProt for CSPP1 Gene:

Tissue specificity: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis.

Evidence on tissue expression from TISSUES for CSPP1 Gene

  • Nervous system(4.3)
  • Bone marrow(4.1)
  • Heart(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSPP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • skull
  • tongue
  • tooth
  • aorta
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CSPP1: view

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
(Pan troglodytes)
Mammalia CSPP1 34 33
  • 96.59 (n)
(Canis familiaris)
Mammalia CSPP1 34 33
  • 90.93 (n)
(Bos Taurus)
Mammalia CSPP1 34 33
  • 88.94 (n)
(Mus musculus)
Mammalia Cspp1 16 34 33
  • 83.42 (n)
(Rattus norvegicus)
Mammalia Cspp1 33
  • 82.49 (n)
(Monodelphis domestica)
Mammalia CSPP1 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia CSPP1 34
  • 43 (a)
(Gallus gallus)
Aves CSPP1 34 33
  • 67.93 (n)
(Anolis carolinensis)
Reptilia CSPP1 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cspp1 33
  • 60.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4386 33
(Danio rerio)
Actinopterygii si:dkey-97a13.9 33
  • 55.33 (n)
CSPP1 34
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
-- 34
  • 22 (a)
Species where no ortholog for CSPP1 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for CSPP1: view image

Paralogs for CSPP1 Gene

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

  • E5RI67_HUMAN
  • F2Z2M5_HUMAN
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 Variation AA Info Type
rs114177619 benign, Joubert syndrome 21 67,149,784(+) T/C coding_sequence_variant, intron_variant, synonymous_variant
rs1808140 benign, not specified, Joubert syndrome 21 67,190,742(+) T/C coding_sequence_variant, missense_variant
rs181470846 conflicting-interpretations-of-pathogenicity, benign, not specified, Joubert syndrome 21 67,064,428(+) A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant
rs200161440 likely-benign, benign, not specified, Joubert syndrome 21 67,195,405(+) C/T coding_sequence_variant, missense_variant
rs374703898 pathogenic, likely-pathogenic, Joubert syndrome 21, not provided 67,111,983(+) C/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, stop_gained, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv7235n100 CNV gain 25217958
esv2197789 CNV deletion 18987734
esv2675478 CNV deletion 23128226
esv3376943 CNV insertion 20981092
esv3572803 CNV loss 25503493
esv3576581 CNV gain 25503493
esv3617494 CNV gain 21293372
esv3617495 CNV loss 21293372
esv3891407 CNV gain 25118596
nsv1115101 CNV deletion 24896259
nsv1124349 CNV deletion 24896259
nsv438063 CNV loss 16468122
nsv611458 CNV loss 21841781
nsv611459 CNV loss 21841781
nsv971660 CNV duplication 23825009

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)

Additional Variant Information for CSPP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for CSPP1

Genetic Association Database
Human Genome Epidemiology 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 HC (Oncogene 2005) 2 3 4 22 58
  2. Mutations in CSPP1 lead to classical Joubert syndrome. (PMID: 24360807) Akizu N … Gleeson JG (American journal of human genetics 2014) 2 3 4 58
  3. CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization. (PMID: 16826565) Patzke S … Aasheim HC (Journal of cellular physiology 2006) 3 4 22 58
  4. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. (PMID: 24360808) Tuz K … Ferland RJ (American journal of human genetics 2014) 3 4 58
  5. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. (PMID: 24360803) Shaheen R … Alkuraya FS (American journal of human genetics 2014) 3 4 58

Products for CSPP1 Gene

Sources for CSPP1 Gene

Loading form....