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

Gene ID: 7373, updated on 2-Nov-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
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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: HPA RNA-seq normal tissues 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. 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
    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

  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

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