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

Gene ID: 219621, updated on 23-Nov-2021

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
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
C10orf107
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

See CABCOCO1 in Genome Data Viewer
Location:
10q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (61662929..61766766)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (63422687..63526524)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6196 Neighboring gene TMEM26 antisense RNA 1 Neighboring gene transmembrane protein 26 Neighboring gene CRISPRi-validated cis-regulatory element chr10.1925 Neighboring gene long intergenic non-protein coding RNA 2625 Neighboring gene AT-rich interaction domain 5B Neighboring gene Sharpr-MPRA regulatory region 11943

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

Associated conditions

Description Tests
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.
GeneReviews: Not available
Genome-wide association study identifies eight loci associated with blood pressure.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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

    Status: VALIDATED

    Source sequence(s)
    AC022398, AL451049
    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
    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
    Q8IVU9
    Related
    ENSP00000328698.2, ENST00000330194.2
    Conserved Domains (1) summary
    pfam14769
    Location:188
    CLAMP; Flagellar C1a complex subunit C1a-32

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005269598.3XP_005269655.1  ciliary-associated calcium-binding coiled-coil protein 1 isoform X2

    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
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