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

    Gene ID: 7373, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See COL14A1 in Genome Data Viewer
    Location:
    8q24.12
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (120124454..120373573)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (121253115..121502333)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (121136693..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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Dorsoventral differential distribution of collagen type XIV around the spinal cord is regulated by the ectoderm. Fukushima M, et al. Dev Growth Differ, 1999 Dec. PMID 10646805
    2. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. Guo BR, et al. J Med Genet, 2012 Sep. PMID 22972947
    3. Complete primary structure of human collagen type XIV (undulin). Bauer M, et al. Biochim Biophys Acta, 1997 Nov 20. PMID 9427527
    4. [Age-dependent distribution of collagen and glycoproteins in the blood vessels of the human uterine tube]. Göpel C, et al. Ann Anat, 1997 Feb. PMID 9092299
    5. Transient expression of collagen type XIV during muscle development and its reappearance after denervation and degeneration. Tono-Oka S, et al. J Histochem Cytochem, 1996 Aug. PMID 8756762

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the intima+media of IPAH vessels, collagens (COL4A5, COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a disintegrin and metalloprotease (ADAM) 33 were higher expressed, whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant.
      Title: Compartment-specific expression of collagens and their processing enzymes in intrapulmonary arteries of IPAH patients.
    2. COL14A1 would be a casual gene for punctate palmoplantar keratoderma.
      Title: Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
    3. In addition to binding collagen I, COMP binds to collagens XII and XIV via their C-terminal collagenous domains.
      Title: Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.
    4. 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.
    5. The aim of this study was therefore to test the association between polymorphisms within COL12A1 and COL14A1 and Achilles tendon injuries
      Title: The COL12A1 and COL14A1 genes and Achilles tendon injuries.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: The COL12A1 and COL14A1 genes and Achilles tendon injuries.
    7. the fibronectin type III domain of collagen XIV is an inducer of quiescence and differentiation in fibroblasts and preadipocytes
      Title: The elongated first fibronectin type III domain of collagen XIV is an inducer of quiescence and differentiation in fibroblasts and preadipocytes.
    8. Results suggest that collagens XII and XIV might serve different functions during human embryonic development although their structures are highly similar.
      Title: Collagen types XII and XIV are present in basement membrane zones during human embryonic development.
    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
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables collagen binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables extracellular matrix structural constituent NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables extracellular matrix structural constituent conferring tensile strength ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables extracellular matrix structural constituent conferring tensile strength RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in collagen fibril organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in extracellular matrix organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell growth involved in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventricular cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen trimer NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of collagen type XIV trimer NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in interstitial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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_033107.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001384947.1 → NP_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:447 → 516
      FN3; Fibronectin type 3 domain
      smart00210
      Location:1229 → 1424
      TSPN; Thrombospondin N-terminal -like domains
      cd00063
      Location:536 → 621
      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:1031 → 1195
      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:832 → 901
      fn3; Fibronectin type III domain
      pfam01391
      Location:1515 → 1604
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_001413490.1 → NP_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_001413491.1 → NP_001400420.1  collagen alpha-1(XIV) chain isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877

    4. NM_001413492.1 → NP_001400421.1  collagen alpha-1(XIV) chain isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877

    5. NM_001413493.1 → NP_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_001413494.1 → NP_001400423.1  collagen alpha-1(XIV) chain isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877

    7. NM_001413495.1 → NP_001400424.1  collagen alpha-1(XIV) chain isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877

    8. NM_001413496.1 → NP_001400425.1  collagen alpha-1(XIV) chain isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736
      UniProtKB/TrEMBL
      A8KAL5
      Related
      ENST00000432943.6

    9. NM_001413497.1 → NP_001400426.1  collagen alpha-1(XIV) chain isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736
      UniProtKB/TrEMBL
      A8KAL5

    10. NM_001413498.1 → NP_001400427.1  collagen alpha-1(XIV) chain isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC090736, AC107877

    11. NM_001413499.1 → NP_001400428.1  collagen alpha-1(XIV) chain isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC107877

    12. NM_001413500.1 → NP_001400429.1  collagen alpha-1(XIV) chain isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC020603, AC107877

    13. NM_021110.4 → NP_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:1478 → 1553
      Collagen; Collagen triple helix repeat (20 copies)
      smart00060
      Location:630 → 701
      FN3; Fibronectin type 3 domain
      smart00210
      Location:1229 → 1424
      TSPN; Thrombospondin N-terminal -like domains
      cd00063
      Location:536 → 621
      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:1031 → 1195
      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:830 → 908
      fn3; Fibronectin type III domain

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05707.3 GenPept UniProtKB/Swiss-Prot:Q05707

    Gene LinkOut

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

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