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

Gene ID: 7373, updated on 3-Jun-2018
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; Vega:OTTHUMG00000149877
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
See COL14A1 in Genome Data Viewer
Location:
8q24.12
Exon count:
50
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (120124467..120373575)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (121137347..121384273)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene HNF1 motif-containing MPRA enhancer 57 Neighboring gene DEP domain containing MTOR interacting protein Neighboring gene uncharacterized LOC105375730 Neighboring gene mitochondrial ribosomal protein L13 Neighboring gene MDM2 binding protein Neighboring gene syntrophin beta 1 Neighboring gene non-SMC condensin I complex subunit G pseudogene 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Epidemiological and genome-wide association study of gastritis or gastric ulcer in korean populations.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
    Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
  • Collagen degradation, organism-specific biosystem (from REACTOME)
    Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
collagen fibril organization NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix organization NAS
Non-traceable Author Statement
more info
PubMed 
growth plate cartilage chondrocyte morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
collagen alpha-1(XIV) chain
Names
collagen, type XIV, alpha 1
undulin (fibronectin-tenascin-related)

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
    5001..253468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021110.3NP_066933.1  collagen alpha-1(XIV) chain precursor

    See identical proteins and their annotated locations for NP_066933.1

    Status: REVIEWED

    Source sequence(s)
    AC107877, AK307716, BC140893, CF529353, DA373565, DB286127
    Consensus CDS
    CCDS34938.1
    UniProtKB/Swiss-Prot
    Q05707
    Related
    ENSP00000297848.3, OTTHUMP00000194886, ENST00000297848.7, OTTHUMT00000313657
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    120124467..120373575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013809.2XP_016869298.1  collagen alpha-1(XIV) chain isoform X1

    UniProtKB/Swiss-Prot
    Q05707
    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
  2. XM_005251059.4XP_005251116.1  collagen alpha-1(XIV) chain isoform X2

    UniProtKB/Swiss-Prot
    Q05707
    Related
    ENSP00000311809.4, OTTHUMP00000194889, ENST00000309791.8
    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
  3. XM_006716651.3XP_006716714.1  collagen alpha-1(XIV) chain isoform X1

    See identical proteins and their annotated locations for XP_006716714.1

    UniProtKB/Swiss-Prot
    Q05707
    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
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