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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
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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

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