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    COL14A1 collagen type XIV alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 7373, updated on 3-Apr-2024

    Summary

    Official Symbol
    COL14A1provided by HGNC
    Official Full Name
    collagen type XIV alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2191
    See related
    Ensembl:ENSG00000187955 MIM:120324; AllianceGenome:HGNC:2191
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UND
    Summary
    This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
    Expression
    Broad expression in gall bladder (RPKM 64.7), placenta (RPKM 45.7) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    8q24.12
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (120124454..120373573)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (121253115..121502333)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (121137341..121385812)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene HNF1 motif-containing MPRA enhancer 57 Neighboring gene RNA, 5S ribosomal pseudogene 277 Neighboring gene DEP domain containing MTOR interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27848 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:120983071-120983251 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:121059845-121060704 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:121060705-121061564 Neighboring gene uncharacterized LOC105375730 Neighboring gene MPRA-validated peak7153 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:121250945-121251444 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:121278472-121279056 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:121409422-121409610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:121409635-121410134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27849 Neighboring gene mitochondrial ribosomal protein L13 Neighboring gene MDM2 binding protein

    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
    Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    collagen alpha-1(XIV) chain
    Names
    collagen, type XIV, alpha 1
    undulin (fibronectin-tenascin-related)

    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.

    Genomic

    1. NG_033107.1 RefSeqGene

      Range
      4995..253466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001384947.1NP_001371876.1  collagen alpha-1(XIV) chain isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
      Consensus CDS
      CCDS94338.1
      Related
      ENSP00000311809.4, ENST00000309791.8
      Conserved Domains (6) summary
      smart00060
      Location:447516
      FN3; Fibronectin type 3 domain
      smart00210
      Location:12291424
      TSPN; Thrombospondin N-terminal -like domains
      cd00063
      Location:536621
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd01482
      Location:10311195
      vWA_collagen_alphaI-XII-like; Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different ...
      pfam00041
      Location:832901
      fn3; Fibronectin type III domain
      pfam01391
      Location:15151604
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_001413490.1NP_001400419.1  collagen alpha-1(XIV) chain isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
      UniProtKB/Swiss-Prot
      B2RU07, O00260, O00261, O00262, Q05707, Q05708, Q5XJ18, Q96C67, Q9UDF6
    3. NM_001413491.1NP_001400420.1  collagen alpha-1(XIV) chain isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
    4. NM_001413492.1NP_001400421.1  collagen alpha-1(XIV) chain isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
    5. NM_001413493.1NP_001400422.1  collagen alpha-1(XIV) chain isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
      UniProtKB/Swiss-Prot
      B2RU07, O00260, O00261, O00262, Q05707, Q05708, Q5XJ18, Q96C67, Q9UDF6
    6. NM_001413494.1NP_001400423.1  collagen alpha-1(XIV) chain isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
    7. NM_001413495.1NP_001400424.1  collagen alpha-1(XIV) chain isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
    8. NM_001413496.1NP_001400425.1  collagen alpha-1(XIV) chain isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736
      Related
      ENST00000432943.6
    9. NM_001413497.1NP_001400426.1  collagen alpha-1(XIV) chain isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736
    10. NM_001413498.1NP_001400427.1  collagen alpha-1(XIV) chain isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877
    11. NM_001413499.1NP_001400428.1  collagen alpha-1(XIV) chain isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC107877
    12. NM_001413500.1NP_001400429.1  collagen alpha-1(XIV) chain isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC107877
    13. NM_021110.4NP_066933.1  collagen alpha-1(XIV) chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_066933.1

      Status: REVIEWED

      Source sequence(s)
      AC090736, AC107877, AK307716, BC140893, CF529353, DA373565, DB286127
      Consensus CDS
      CCDS34938.1
      UniProtKB/Swiss-Prot
      B2RU07, O00260, O00261, O00262, Q05707, Q05708, Q5XJ18, Q96C67, Q9UDF6
      Related
      ENSP00000297848.3, ENST00000297848.8
      Conserved Domains (6) summary
      pfam01391
      Location:14781553
      Collagen; Collagen triple helix repeat (20 copies)
      smart00060
      Location:630701
      FN3; Fibronectin type 3 domain
      smart00210
      Location:12291424
      TSPN; Thrombospondin N-terminal -like domains
      cd00063
      Location:536621
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd01482
      Location:10311195
      vWA_collagen_alphaI-XII-like; Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different ...
      pfam00041
      Location:830908
      fn3; Fibronectin type III domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      120124454..120373573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      121253115..121502333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)