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 en... See more...

Aliases for CSPP1 Gene

Aliases for CSPP1 Gene

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

UniProtKB/Swiss-Prot Summary for CSPP1 Gene

Additional gene information for CSPP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSPP1 Gene

Genomics for CSPP1 Gene

GeneHancer (GH) Regulatory Elements for CSPP1 Gene

Promoters and enhancers for CSPP1 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSPP1

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

Genomic Locations for CSPP1 Gene

Genomic Locations for CSPP1 Gene
chr8:67,062,417-67,196,614
(GRCh38/hg38)
Size:
134,198 bases
Orientation:
Plus strand
chr8:67,974,661-68,108,849
(GRCh37/hg19)
Size:
134,189 bases
Orientation:
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:
    Q1MSJ5-CSPP1_HUMAN
    Recommended name:
    Centrosome and spindle pole-associated protein 1
    Protein Accession:
    Q1MSJ5
    Secondary Accessions:
    • A6ND63
    • Q70F00
    • Q8TBC1

    Protein attributes for CSPP1 Gene

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

    Alternative splice isoforms for CSPP1 Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CSPP1 Gene

GenScript: Design optimal peptide antigens:
  • Centrosome and spindle pole-associated protein 1 (CSPP1_HUMAN)
genes like me logo Genes that share domains with CSPP1: view

No data available for Graphical View of Domain Structure 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.

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

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

COMPARTMENTS
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
mitochondrion 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (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,IBA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA,IDA 19129481
genes like me logo Genes that share ontologies with CSPP1: view

Pathways & Interactions for CSPP1 Gene

PathCards logo

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

mRNA/cDNA for CSPP1 Gene

8 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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: - -
SP3:
SP4:
SP5:
SP6: -

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for CSPP1 Gene

GeneLoc Exon Structure for
CSPP1

Expression for CSPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSPP1

SOURCE GeneReport for Unigene cluster for CSPP1 Gene:

Hs.370147

mRNA Expression by UniProt/SwissProt for CSPP1 Gene:

Q1MSJ5-CSPP1_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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
Thorax:
  • aorta
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia CSPP1 31 30
  • 96.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSPP1 31 30
  • 90.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSPP1 31 30
  • 88.94 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cspp1 17 31 30
  • 83.42 (n)
rat
(Rattus norvegicus)
Mammalia Cspp1 30
  • 82.49 (n)
oppossum
(Monodelphis domestica)
Mammalia CSPP1 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSPP1 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSPP1 31 30
  • 67.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSPP1 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cspp1 30
  • 60.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4386 30
zebrafish
(Danio rerio)
Actinopterygii si:dkey-97a13.9 30
  • 55.33 (n)
CSPP1 31
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
-- 31
  • 22 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CSPP1 (if available)
TreeFam:
Gene Tree for CSPP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSPP1: view image

Paralogs for CSPP1 Gene

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

  • CSPP1_HUMAN
  • E5RGA5_HUMAN
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSPP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
575666 Uncertain Significance: Joubert syndrome 21 67,149,790(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
575764 Uncertain Significance: Joubert syndrome 21 67,118,799(+) C/A MISSENSE_VARIANT
579663 Uncertain Significance: Joubert syndrome 21 67,105,943(+) A/G MISSENSE_VARIANT
642418 Uncertain Significance: Joubert syndrome 21 67,164,493(+) A/G MISSENSE_VARIANT
658221 Uncertain Significance: Joubert syndrome 21 67,149,794(+) A/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CSPP1 Gene

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)
CSPP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSPP1

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

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

- elite association - COSMIC cancer census association via MalaCards
Search CSPP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSPP1_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  2. Mutations in CSPP1 lead to classical Joubert syndrome. (PMID: 24360807) Akizu N … Gleeson JG (American journal of human genetics 2014) 2 3 4 54
  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 23 54
  4. 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 54
  5. 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 54

Products for CSPP1 Gene

Sources for CSPP1 Gene