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

    Gene ID: 219621, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.4), lung (RPKM 1.5) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CABCOCO1 in Genome Data Viewer
    Location:
    10q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (61662929..61766766)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (62519703..62623652)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001366905.2NP_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:188
      CLAMP; Flagellar C1a complex subunit C1a-32
    2. NM_001366906.2NP_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:81176
      CLAMP; Flagellar C1a complex subunit C1a-32
    3. NM_001366907.1NP_001353836.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL451049
      Conserved Domains (1) summary
      pfam14769
      Location:81176
      CLAMP; Flagellar C1a complex subunit C1a-32
    4. NM_001366908.2NP_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:35130
      CLAMP; Flagellar C1a complex subunit C1a-32
    5. NM_001366909.1NP_001353838.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL451049
    6. NM_173554.3NP_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:188
      CLAMP; Flagellar C1a complex subunit C1a-32

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047424714.1XP_047280670.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform X2

    2. XM_005269598.4XP_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:35130
      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_054364995.1XP_054220970.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform X1