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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCSAP Gene

protein-coding   GIFtS: 36
GCID: GC01M229457

Centriole, Cilia And Spindle-Associated Protein

(Previous name: chromosome 1 open reading frame 96)
(Previous symbol: C1orf96)
  Search for CCSAP
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Centriole, Cilia And Spindle-Associated Protein1 2
C1orf961 2 3
Centriole And Spindle-Associated Protein1 2
CSAP2 3
Chromosome 1 Open Reading Frame 961

External Ids:    HGNC: 295781   Entrez Gene: 1267312   Ensembl: ENSG000001544297   UniProtKB: Q6IQ193   

Export aliases for CCSAP gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CCSAP Gene: 
CCSAP (centriole, cilia and spindle-associated protein) is a protein-coding gene.

UniProtKB/Swiss-Prot: CCSAP_HUMAN, Q6IQ19
Function: May play a role in embryonic development. May be required for proper cilia beating (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CCSAP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CCSAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCSAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q42.13

CCSAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCSAP gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M229457:  view genomic region     (about GC identifiers)

Start:
229,456,752 bp from pter      End:
229,479,041 bp from pter
Size:
22,290 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CCSAP_HUMAN, Q6IQ19 (See protein sequence)
Recommended Name: Centriole, cilia and spindle-associated protein  
Size: 270 amino acids; 30216 Da
Subunit: Associates with microtubules; the association occurs on polyglutamylated tubulin
Subcellular location: 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. 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
Secondary accessions: A8K5X2 Q6P9G2 Q6ZW85 Q8IXU1 Q96BM2
Alternative splicing: 4 isoforms:  Q6IQ19-1   Q6IQ19-2   Q6IQ19-3   Q6IQ19-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCSAP: NX_Q6IQ19

Explore proteomics data for CCSAP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6IQ19

  • CCSAP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCSAP Protein Expression
    REFSEQ proteins: NP_660300.3  
    ENSEMBL proteins: 
     ENSP00000355648   ENSP00000355647   ENSP00000284617   ENSP00000392927  

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    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--
    GO:0005819spindle IDA--
    GO:0005929cilium IDA--
    GO:0030424axon IDA--

    CCSAP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q6IQ19

    UniProtKB/Swiss-Prot: CCSAP_HUMAN, Q6IQ19
    Similarity: Belongs to the CCSAP family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCSAP_HUMAN, Q6IQ19
    Function: May play a role in embryonic development. May be required for proper cilia beating (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for CCSAP:

     Increased gamma-H2AX phosphory 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCSAP

    2 Interacting proteins for CCSAP (Q6IQ193) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNMA1Q127913I2D: score=1 
    YWHABP319463I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0045995regulation of embryonic development ISS--
    GO:0060296regulation of cilium beat frequency involved in ciliary motility ISS--

    CCSAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCSAP

    Search CenterWatch for drugs/clinical trials and news about CCSAP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCSAP gene: 
    NM_145257.3  

    Unigene Cluster for CCSAP:

    Centriole, cilia and spindle-associated protein
    Hs.585011  [show with all ESTs]
    Unigene Representative Sequence: BC071609
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366687 ENST00000366686 ENST00000483092 ENST00000284617(uc001htl.4 uc009xfc.3)
    ENST00000452552
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCSAP

    Additional mRNA sequence: 

    AK094615.1 AK098801.1 AK123465.1 AK291437.1 BC015419.1 BC039241.1 BC060777.1 BC071609.1 

    9 DOTS entries:

    DT.75183322  DT.40219159  DT.100829980  DT.100020404  DT.99938889  DT.113151  DT.75122112  DT.100814503 
    DT.95158468 

    24/144 AceView cDNA sequences (see all 144):

    BC039241 N47141 AW014856 AA294830 N41054 BX423096 BX419008 AA399134 
    BU155676 BE302244 BQ445918 F04270 F11109 BX366013 BU739635 BE018674 
    AK094615 BC060777 Z41040 BQ423730 BC015419 BM787647 BM470687 T10547 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCSAP expression in normal human tissues (normalized intensities)      CCSAP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCSAP Expression
    About this image


    CCSAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See CCSAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCSAP

    SOURCE GeneReport for Unigene cluster: Hs.585011
        SABiosciences Custom PCR Arrays for CCSAP
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCSAP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CCSAP gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccsap1 , 5 RIKEN cDNA 1700054N08 gene5
    centriole, cilia and spindle associated protein1
    77.78(n)1
    74.6(a)1
      8 (72.22 cM)5
    734201  NM_028536.11  NP_082812.11 
     1238408315 
    chicken
    (Gallus gallus)
    Aves C3H1orf961 chromosome 3 open reading frame, human C1orf96 61.9(n)
    59.01(a)
      421533  XM_419574.3  XP_419574.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCSAP6
    Uncharacterized protein
    48(a)
    1 ↔ 1
    1(222148132-222174973)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.290932 Danio rerio cDNA clone IMAGE6997555, partial cds 74.4(n)    BC063997.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/478 SNPs in CCSAP are shown (see all 478)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs558883381,2
    C,F--229456351(+) CACCCG/AGCTAA 1 -- ds50012Minor allele frequency- A:0.50NA 4
    rs2377931,2
    C,F,A--229456392(+) ACCATA/GTTGGC 1 -- ds50014Minor allele frequency- G:0.25NA 8
    rs2377941,2
    C,F,A--229456422(+) tgaccT/Gcaagt 1 -- ds50013Minor allele frequency- G:0.17NA 6
    rs2377951,2
    C,F,A--229456441(+) tgcctC/Gggcct 1 -- ds50012Minor allele frequency- G:0.00NA 4
    rs1871936481,2
    --229456589(+) AATTAC/TAGCTC 1 -- ds50010--------
    rs1499614451,2
    --229456616(+) ACACTA/GTTTAT 1 -- ds50010--------
    rs1905265221,2
    --229456621(+) ATTTAA/TCTTTT 1 -- ds50010--------
    rs1815039481,2
    --229456627(+) CTTTTC/TCCGGA 1 -- ds50010--------
    rs1157966051,2
    C,F--229456666(+) ATCTAC/TTGAAA 1 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1136261491,2
    C,F--229456723(+) TATGTG/ACTAAG 1 -- ds50011Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for CCSAP (229456752 - 229479041 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCSAP: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCSAP
    DNA2.0 Custom Variant and Variant Library Synthesis for CCSAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CCSAP gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCSAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CSAP localizes to polyglutamylated microtubules and promotes proper cilia function and zebrafish development. (PubMed id 22493317)1, 2, 3 Backer C.B.... Cheeseman I.M. (2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 126731 HGNC: 29578 AceView: LOC126731 Ensembl:ENSG00000154429 euGenes: HUgn126731
    ECgene: CCSAP H-InvDB: CCSAP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CCSAP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CCSAP gene:
    Search GeneIP for patents involving CCSAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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