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

Gene ID: 126731, updated on 5-Mar-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
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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 cycle IEA
Inferred from Electronic Annotation
more info
  
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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