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    COLCA1 colorectal cancer associated 1 [ Homo sapiens (human) ]

    Gene ID: 399948, updated on 2-Nov-2024

    Summary

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    Official Symbol
    COLCA1provided by HGNC
    Official Full Name
    colorectal cancer associated 1provided by HGNC
    Primary source
    HGNC:HGNC:33789
    See related
    Ensembl:ENSG00000196167 MIM:615693; AllianceGenome:HGNC:33789
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CASC12; C11orf92; LOH11CR1F
    Summary
    This gene encodes a transmembrane protein that localizes to granular structures, including crystalloid eosinophilic granules and other granular organelles. This gene, along with an overlapping opposite strand gene, has been implicated as a susceptibility locus for colorectal cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Broad expression in stomach (RPKM 15.6), prostate (RPKM 11.1) and 14 other tissues See more
    Orthologs
    all
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    Genomic context

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    See COLCA1 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111293389..111305048, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111303576..111315229, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111164114..111175773, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723966 Neighboring gene ribosomal protein S17 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5504 Neighboring gene POU class 2 homeobox associating factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3894 Neighboring gene POU class 2 homeobox associating factor 3 Neighboring gene uncharacterized LOC105369491 Neighboring gene uncharacterized LOC124902755

    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 candidate susceptibility genes for colorectal cancer through eQTL analysis. Closa A, et al. Carcinogenesis, 2014 Sep. PMID 24760461, Free PMC Article
    2. Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1. Biancolella M, et al. Hum Mol Genet, 2014 Apr 15. PMID 24256810, Free PMC Article
    3. rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis. Hitomi Y, et al. Sci Rep, 2021 Feb 25. PMID 33633225, Free PMC Article
    4. Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Middeldorp A, et al. Cancer Epidemiol Biomarkers Prev, 2009 Nov. PMID 19843678
    5. Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants. Peltekova VD, et al. Int J Cancer, 2014 May 15. PMID 24154973, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.
      Title: rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.
    2. We found PLCE1, C11orf92-C11orf93, and NOC3L associated with colorectal cancer susceptibility
      Title: Genetic association of PLCE1, C11orf92-C11orf93, and NOC3L with colorectal cancer risk in the Han population.
    3. Data implicate COLCA1 and COLCA2 in the pathogenesis of colon cancer.
      Title: Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants.
    4. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Low-penetrance susceptibility variants in familial colorectal cancer.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association studies on 11 published colorectal cancer risk loci.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
    EBI GWAS Catalog
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    EBI GWAS Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Meta-analysis of new genome-wide association studies of colorectal cancer risk.
    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)

    General gene information

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    Markers

    Homology

    Other Names

    • cancer susceptibility candidate 12
    • colorectal cancer-associated protein 1

    Clone Names

    • FLJ45803, DKFZp781P19126

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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.

    Genomic

    1. NG_027686.2 RefSeqGene

      Range
      5001..16660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_169237.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP002448
      Related
      ENST00000669257.1

    2. NR_169241.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP002448
      Related
      ENST00000532918.4

    3. NR_169242.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP002448
      Related
      ENST00000355430.5

    4. NR_169243.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP002448
      Related
      ENST00000540738.3

    5. NR_169244.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP002448

    6. NR_169245.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP002448

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111293389..111305048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111303576..111315229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001302644.1: Suppressed sequence

      Description
      NM_001302644.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    2. NM_001302645.1: Suppressed sequence

      Description
      NM_001302645.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    3. NM_001302646.1: Suppressed sequence

      Description
      NM_001302646.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    4. NM_001302647.1: Suppressed sequence

      Description
      NM_001302647.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    5. NM_001302648.1: Suppressed sequence

      Description
      NM_001302648.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    6. NM_207429.3: Suppressed sequence

      Description
      NM_207429.3: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZS62.1 GenPept UniProtKB/Swiss-Prot:Q6ZS62

    Gene LinkOut

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

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