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Aliases for CCSAP Gene

Aliases for CCSAP Gene

  • Centriole, Cilia And Spindle Associated Protein 2 3 5
  • Centriole, Cilia And Spindle-Associated Protein 2 3
  • Centriole And Spindle-Associated Protein 2 3
  • C1orf96 3 4
  • CSAP 3 4
  • Chromosome 1 Open Reading Frame 96 2

External Ids for CCSAP Gene

Previous HGNC Symbols for CCSAP Gene

  • C1orf96

Previous GeneCards Identifiers for CCSAP Gene

  • GC01M229457

Summaries for CCSAP Gene

GeneCards Summary for CCSAP Gene

CCSAP (Centriole, Cilia And Spindle Associated Protein) is a Protein Coding gene. Diseases associated with CCSAP include Carpal Tunnel Syndrome, Familial and Nerve Compression Syndrome.

UniProtKB/Swiss-Prot for CCSAP Gene

  • Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity).

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

Genomics for CCSAP Gene

Regulatory Elements for CCSAP Gene

Enhancers for CCSAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F229295 0.2 ENCODE 22.7 +46.5 46515 1.8 CTCF ZNF664 BHLHE40 FOS REST CCSAP ENSG00000237481 RAB4A GC01P229305 GC01P229306 ENSG00000240524
GH01F229406 1.2 FANTOM5 Ensembl ENCODE 13.7 -66.3 -66282 5.8 PKNOX1 KLF17 ARID4B ZNF48 RARA GLIS2 GATA2 SCRT2 FOS EGR2 ACTA1 CCSAP RNU6-180P RN7SKP276
GH01F229325 0.5 Ensembl 11.9 +17.2 17194 0.6 PKNOX1 ZNF146 PBX2 IRF1 NFE2 CCSAP ENSG00000240524 RAB4A ENSG00000177788 RNU6-180P GC01M228906
GH01F229363 0.5 ENCODE 11.9 -20.6 -20625 0.2 NRF1 ZNF512 SPI1 NR2C2 CCSAP GC01P229362 RNU6-180P
GH01F229341 1 ENCODE 11.6 +0.3 289 3.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF2 ZNF766 KLF13 ZNF263 NUP133 HIST3H3 URB2 CCSAP RNU6-180P HMGN2P19 ACTA1 TMEM78 GC01M228906
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCSAP on UCSC Golden Path with GeneCards custom track

Promoters for CCSAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001041145 794 3800 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF2 ZNF766 KLF13 ZNF263

Genomic Location for CCSAP Gene

Chromosome:
1
Start:
229,321,005 bp from pter
End:
229,343,294 bp from pter
Size:
22,290 bases
Orientation:
Minus strand

Genomic View for CCSAP Gene

Genes around CCSAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCSAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCSAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCSAP Gene

Proteins for CCSAP Gene

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

    Protein Symbol:
    Q6IQ19-CCSAP_HUMAN
    Recommended name:
    Centriole, cilia and spindle-associated protein
    Protein Accession:
    Q6IQ19
    Secondary Accessions:
    • A8K5X2
    • Q6P9G2
    • Q6ZW85
    • Q8IXU1
    • Q96BM2

    Protein attributes for CCSAP Gene

    Size:
    270 amino acids
    Molecular mass:
    30216 Da
    Quaternary structure:
    • Associates with microtubules; the association occurs on polyglutamylated tubulin (PubMed:22493317, PubMed:26562023).

    Alternative splice isoforms for CCSAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCSAP Gene

Post-translational modifications for CCSAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCSAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCSAP Gene

Domains & Families for CCSAP Gene

Protein Domains for CCSAP Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6IQ19

UniProtKB/Swiss-Prot:

CCSAP_HUMAN :
  • Belongs to the CCSAP family.
Family:
  • Belongs to the CCSAP family.
genes like me logo Genes that share domains with CCSAP: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for CCSAP Gene

Function for CCSAP Gene

Molecular function for CCSAP Gene

UniProtKB/Swiss-Prot Function:
Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle (PubMed:26562023). May play a role in embryonic development. May be required for proper cilia beating (By similarity).

Gene Ontology (GO) - Molecular Function for CCSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IDA 26562023
genes like me logo Genes that share ontologies with CCSAP: view

Phenotypes for CCSAP Gene

genes like me logo Genes that share phenotypes with CCSAP: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCSAP Gene

Localization for CCSAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCSAP Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, axon. Cell projection, cilium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to two to four centrioles throughout the cell cycle. Localizes to mitotic spindle microtubules during prometaphase and throughout the remainder of mitosis. Localizes to cytoskeleton on interphase. Localizes at the ciliary transition zone which connects the basal bodies to ciliary microtubules. Colocalizes with polyglutamylated tubulin. {ECO:0000269 PubMed:22493317, ECO:0000269 PubMed:26562023}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCSAP Gene COMPARTMENTS Subcellular localization image for CCSAP gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA,IDA 22493317
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA,IDA 22493317
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CCSAP: view

Pathways & Interactions for CCSAP Gene

SuperPathways for CCSAP Gene

No Data Available

Interacting Proteins for CCSAP Gene

Selected Interacting proteins: Q6IQ19-CCSAP_HUMAN for CCSAP Gene via IID

Gene Ontology (GO) - Biological Process for CCSAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007275 multicellular organism development IEA --
GO:0045995 regulation of embryonic development ISS --
GO:0048666 neuron development IBA --
genes like me logo Genes that share ontologies with CCSAP: view

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

Transcripts for CCSAP Gene

mRNA/cDNA for CCSAP Gene

Unigene Clusters for CCSAP Gene

Centriole, cilia and spindle-associated protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CCSAP Gene

GeneLoc Exon Structure for
CCSAP
ECgene alternative splicing isoforms for
CCSAP

Expression for CCSAP Gene

mRNA expression in normal human tissues for CCSAP Gene

mRNA differential expression in normal tissues according to GTEx for CCSAP Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.0) and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for CCSAP Gene

This gene is overexpressed in Frontal cortex (46.0) and Peripheral blood mononuclear cells (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCSAP Gene



Protein tissue co-expression partners for CCSAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCSAP Gene:

CCSAP

SOURCE GeneReport for Unigene cluster for CCSAP Gene:

Hs.585011
genes like me logo Genes that share expression patterns with CCSAP: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CCSAP Gene

Orthologs for CCSAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCSAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCSAP 34 35
  • 96.91 (n)
dog
(Canis familiaris)
Mammalia CCSAP 34 35
  • 87.69 (n)
cow
(Bos Taurus)
Mammalia CCSAP 34 35
  • 82.64 (n)
rat
(Rattus norvegicus)
Mammalia Ccsap 34
  • 76.85 (n)
mouse
(Mus musculus)
Mammalia Ccsap 34 16 35
  • 76.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 59 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CCSAP 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF96 34
  • 68.56 (n)
CCSAP 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCSAP 35
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccsapb 34 35
  • 47.2 (n)
CCSAP (1 of 2) 35
  • 26 (a)
OneToMany
Dr.29093 34
Species where no ortholog for CCSAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCSAP Gene

ENSEMBL:
Gene Tree for CCSAP (if available)
TreeFam:
Gene Tree for CCSAP (if available)

Paralogs for CCSAP Gene

No data available for Paralogs for CCSAP Gene

Variants for CCSAP Gene

Sequence variations from dbSNP and Humsavar for CCSAP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10158011 -- 229,344,677(+) TATGG(C/G)ACATG upstream-variant-2KB
rs1043188 -- 229,322,482(-) TTCAA(A/G)AGATT nc-transcript-variant, utr-variant-3-prime
rs10799526 -- 229,333,934(+) TGTAA(C/T)GTGTA intron-variant
rs1088 -- 229,322,709(+) CTCCC(A/G)CGGAC nc-transcript-variant, utr-variant-3-prime
rs10916464 -- 229,328,846(+) TACAT(A/T)TATTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2676357 CNV deletion 23128226
esv3589072 CNV gain 21293372
esv3589073 CNV loss 21293372

Variation tolerance for CCSAP Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCSAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCSAP

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

Disorders for CCSAP Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCSAP Gene - From: DISEASES

Disorder Aliases PubMed IDs
carpal tunnel syndrome, familial
  • carpal tunnel syndrome
nerve compression syndrome
  • compression neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search CCSAP in MalaCards View complete list of genes associated with diseases

Relevant External Links for CCSAP

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

No data available for UniProtKB/Swiss-Prot and Genatlas for CCSAP Gene

Publications for CCSAP Gene

  1. CSAP localizes to polyglutamylated microtubules and promotes proper cilia function and zebrafish development. (PMID: 22493317) Backer C.B. … Cheeseman I.M. (Mol. Biol. Cell 2012) 2 3 4 64
  2. Polyglutamylated tubulin binding protein C1orf96/CSAP is involved in microtubule stabilization in mitotic spindles. (PMID: 26562023) Ohta S. … Toramoto I. (PLoS ONE 2015) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 4 64
  5. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 3 64

Products for CCSAP Gene

Sources for CCSAP Gene

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