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    CCSAP centriole, cilia and spindle associated protein [ Homo sapiens (human) ]

    Gene ID: 126731, updated on 2-May-2024

    Summary

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    Official Symbol
    CCSAPprovided by HGNC
    Official Full Name
    centriole, cilia and spindle associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29578
    See related
    Ensembl:ENSG00000154429 MIM:616762; AllianceGenome:HGNC:29578
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSAP; C1orf96
    Summary
    Enables microtubule binding activity. Involved in mitotic spindle microtubule depolymerization and regulation of mitotic spindle assembly. Located in axon; ciliary transition zone; and cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 20.5), placenta (RPKM 8.3) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q42.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (229321015..229343047, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (228699674..228721751, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (229456762..229478794, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723935 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:229388645-229389519 Neighboring gene uncharacterized LOC124904540 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:229389520-229390393 Neighboring gene RAB4A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1926 Neighboring gene RAB4A, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:229470989-229471498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1928 Neighboring gene Sharpr-MPRA regulatory region 13048 Neighboring gene MPRA-validated peak753 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:229516888-229517495 Neighboring gene RNA, U6 small nuclear 180, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:229542759-229543724 Neighboring gene uncharacterized LOC124904541 Neighboring gene RN7SK pseudogene 276

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation. Bompard G, et al. Cell Rep, 2018 Dec 4. PMID 30517872
    2. CSAP localizes to polyglutamylated microtubules and promotes proper cilia function and zebrafish development. Backer CB, et al. Mol Biol Cell, 2012 Jun. PMID 22493317, Free PMC Article
    3. Polyglutamylated Tubulin Binding Protein C1orf96/CSAP Is Involved in Microtubule Stabilization in Mitotic Spindles. Ohta S, et al. PLoS One, 2015. PMID 26562023, Free PMC Article
    4. Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders. Li J, et al. Cell Syst, 2015 Nov 25. PMID 26949739, Free PMC Article
    5. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. Jakobsen L, et al. EMBO J, 2011 Apr 20. PMID 21399614, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Binding of CSAP to TTLL5 promotes relocalization of TTLL5 toward microtubules.
      Title: CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation.
    2. The tubulin binding protein CSAP associates with mitotic microtubules around centrosomes to stabilize mitotic microtubules during mitosis, ensuring proper bipolar spindle formation and maintenance.
      Title: Polyglutamylated Tubulin Binding Protein C1orf96/CSAP Is Involved in Microtubule Stabilization in Mitotic Spindles.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37296, FLJ41471

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic spindle microtubule depolymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mitotic spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle astral microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centriole, cilia and spindle-associated protein
    Names
    centriole and spindle-associated protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001410936.1 → NP_001397865.1  centriole, cilia and spindle-associated protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL117350, KF455154
      Consensus CDS
      CCDS91172.1
      Related
      ENSP00000355647.1, ENST00000366686.1

    2. NM_145257.5 → NP_660300.3  centriole, cilia and spindle-associated protein isoform 1

      See identical proteins and their annotated locations for NP_660300.3

      Status: VALIDATED

      Source sequence(s)
      AL117350, BC015419, BC071609, KF455154
      Consensus CDS
      CCDS1577.1
      UniProtKB/Swiss-Prot
      A8K5X2, Q6IQ19, Q6P9G2, Q6ZW85, Q8IXU1, Q96BM2
      Related
      ENSP00000284617.2, ENST00000284617.7
      Conserved Domains (1) summary
      pfam15748
      Location:7 → 269
      CCSAP; Centriole, cilia and spindle-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      229321015..229343047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      228699674..228721751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334250.1 → XP_054190225.1  centriole, cilia and spindle-associated protein isoform X1

      UniProtKB/Swiss-Prot
      A8K5X2, Q6IQ19, Q6P9G2, Q6ZW85, Q8IXU1, Q96BM2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IQ19.2 GenPept UniProtKB/Swiss-Prot:Q6IQ19

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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