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    CABCOCO1 ciliary associated calcium binding coiled-coil 1 [ Homo sapiens (human) ]

    Gene ID: 219621, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CABCOCO1provided by HGNC
    Official Full Name
    ciliary associated calcium binding coiled-coil 1provided by HGNC
    Primary source
    HGNC:HGNC:28678
    See related
    Ensembl:ENSG00000183346 AllianceGenome:HGNC:28678
    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
    ARIEL; C10orf107
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be located in centrosome; cytoplasm; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.4), lung (RPKM 1.5) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (61662929..61766766)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (62519703..62623652)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (63422687..63526524)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TMEM26 antisense RNA 1 Neighboring gene uncharacterized LOC124902548 Neighboring gene MPRA-validated peak957 silencer Neighboring gene uncharacterized LOC124902535 Neighboring gene MPRA-validated peak958 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:63403079-63403697 Neighboring gene CRISPRi-validated cis-regulatory element chr10.1925 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 Neighboring gene long intergenic non-protein coding RNA 2625 Neighboring gene Sharpr-MPRA regulatory region 13978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:63661148-63661650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3400 Neighboring gene AT-rich interaction domain 5B Neighboring gene NANOG hESC enhancer GRCh37_chr10:63746020-63746682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3402 Neighboring gene uncharacterized LOC124902435

    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. Identification of novel lncRNAs regulated by the TAL1 complex in T-cell acute lymphoblastic leukemia. Ngoc PCT, et al. Leukemia, 2018 Oct. PMID 29654272, Free PMC Article
    2. CABCOCO1, a novel coiled-coil protein With calcium-binding activity, is localized in the sperm flagellum. Kawashima A, et al. Mol Reprod Dev, 2016 Oct. PMID 26990073
    3. Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese. Niu W, et al. Clin Chim Acta, 2010 Oct 9. PMID 20542020
    4. Common variants in or near FGF5, CYP17A1 and MTHFR genes are associated with blood pressure and hypertension in Chinese Hans. Liu C, et al. J Hypertens, 2011 Jan. PMID 20852445
    5. Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study. Ho JE, et al. J Hypertens, 2011 Jan. PMID 21045733, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Common variants in or near FGF5, CYP17A1 and MTHFR genes are associated with blood pressure and hypertension in Chinese Hans.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese.
    5. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study identifies eight loci associated with blood pressure.
    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

    EBI GWAS Catalog

    Description
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    EBI GWAS Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    EBI GWAS Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    • MGC44593

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ciliary-associated calcium-binding coiled-coil protein 1
    Names
    ARID5B-inducing enhancer associated long noncoding RNA
    uncharacterized protein C10orf107

    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_001366905.2 → NP_001353834.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022398, AL451049
      Consensus CDS
      CCDS7262.1
      UniProtKB/Swiss-Prot
      Q5T1B8, Q8IVU9
      Conserved Domains (1) summary
      pfam14769
      Location:1 → 88
      CLAMP; Flagellar C1a complex subunit C1a-32

    2. NM_001366906.2 → NP_001353835.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC022398, AL451049
      Consensus CDS
      CCDS91247.1
      UniProtKB/TrEMBL
      A0A7I2UT39
      Related
      ENSP00000496918.2, ENST00000648843.3
      Conserved Domains (1) summary
      pfam14769
      Location:81 → 176
      CLAMP; Flagellar C1a complex subunit C1a-32

    3. NM_001366907.1 → NP_001353836.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL451049
      Conserved Domains (1) summary
      pfam14769
      Location:81 → 176
      CLAMP; Flagellar C1a complex subunit C1a-32

    4. NM_001366908.2 → NP_001353837.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC022398, AL451049
      Conserved Domains (1) summary
      pfam14769
      Location:35 → 130
      CLAMP; Flagellar C1a complex subunit C1a-32

    5. NM_001366909.1 → NP_001353838.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL451049

    6. NM_173554.3 → NP_775825.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 1

      See identical proteins and their annotated locations for NP_775825.1

      Status: VALIDATED

      Source sequence(s)
      AC022398, AL451049, BC041932
      Consensus CDS
      CCDS7262.1
      UniProtKB/Swiss-Prot
      Q5T1B8, Q8IVU9
      Related
      ENSP00000328698.2, ENST00000330194.2
      Conserved Domains (1) summary
      pfam14769
      Location:1 → 88
      CLAMP; Flagellar C1a complex subunit C1a-32

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      61662929..61766766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424714.1 → XP_047280670.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform X2

    2. XM_005269598.4 → XP_005269655.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005269655.1

      Conserved Domains (1) summary
      pfam14769
      Location:35 → 130
      CLAMP; Flagellar C1a complex subunit C1a-32

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      62519703..62623652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364995.1 → XP_054220970.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVU9.1 GenPept UniProtKB/Swiss-Prot:Q8IVU9

    Gene LinkOut

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

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