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CCSAP Gene

protein-coding   GIFtS: 35
GCID: GC01M229457

Centriole, Cilia And Spindle-Associated Protein

(Previous name: chromosome 1 open reading frame 96)
(Previous symbol: C1orf96)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCSAP
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCSAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660300.3  
    ENSEMBL proteins: 
     ENSP00000355648   ENSP00000355647   ENSP00000284617   ENSP00000392927  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CCSAP_HUMAN, Q6IQ19: 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

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--
    GO:0005819spindle IDA--
    GO:0005929cilium IDA--
    GO:0005930axoneme IDA--

    Find genes that share ontologies with CCSAP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCSAP
    Interactions:

        Search GeneGlobe Interaction Network 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:    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--

    Find genes that share ontologies with CCSAP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCSAP gene: 
    NM_145257.4  

    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
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CCSAP
      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 

    Selected AceView cDNA sequences (see all 144):

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

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCSAP expression in normal human tissues (normalized intensities)
    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
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
    CCSAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCSAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.585011
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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CCSAP gene from Selected species (see all 10)    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
    76.06(n)1
    71.03(a)1
      8 (72.22 cM)5
    734201  NM_028536.11  NP_082812.11 
     1238408315 
    chicken
    (Gallus gallus)
    Aves C1ORF961 chromosome 3 open reading frame, human C1orf96 68.56(n)
    65.25(a)
      421533  XM_419574.4  XP_419574.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCSAP6
    centriole, cilia and spindle-associated protein
    52(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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCSAP (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: --
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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)
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    PubMed articles for CCSAP gene integrated from 10 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. (Mol. Biol. Cell 2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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. (Genome Res. 2004)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 126731 HGNC: 29578 AceView: LOC126731 Ensembl:ENSG00000154429 euGenes: HUgn126731
    ECgene: CCSAP H-InvDB: CCSAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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