COL14A1 (collagen type XIV alpha 1 chain)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7373 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Collagen type XIV alpha 1 chain |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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COL14A1 |
SynonymsGene synonyms aliases
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UND |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q24.12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 fibrillog |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q05707 |
Protein name |
Collagen alpha-1(XIV) chain (Undulin) |
Protein function |
Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00041 |
fn3 |
31 → 111 |
Fibronectin type III domain |
Domain |
PF00092 |
VWA |
158 → 329 |
von Willebrand factor type A domain |
Domain |
PF00041 |
fn3 |
354 → 433 |
Fibronectin type III domain |
Domain |
PF00041 |
fn3 |
444 → 525 |
Fibronectin type III domain |
Domain |
PF00041 |
fn3 |
536 → 614 |
Fibronectin type III domain |
Domain |
PF00041 |
fn3 |
625 → 704 |
Fibronectin type III domain |
Domain |
PF00041 |
fn3 |
737 → 819 |
Fibronectin type III domain |
Domain |
PF00041 |
fn3 |
830 → 910 |
Fibronectin type III domain |
Domain |
PF00041 |
fn3 |
921 → 998 |
Fibronectin type III domain |
Domain |
PF00092 |
VWA |
1032 → 1204 |
von Willebrand factor type A domain |
Domain |
PF01391 |
Collagen |
1460 → 1514 |
Collagen triple helix repeat (20 copies) |
Repeat |
PF01391 |
Collagen |
1512 → 1570 |
Collagen triple helix repeat (20 copies) |
Repeat |
PF01391 |
Collagen |
1554 → 1614 |
Collagen triple helix repeat (20 copies) |
Repeat |
PF01391 |
Collagen |
1651 → 1707 |
Collagen triple helix repeat (20 copies) |
Repeat |
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Sequence |
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Sequence length |
1796 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 |
29059683 |
Colonic neoplasms |
Malignant tumor of colon |
rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 |
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Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
Palmoplantar keratoderma |
Keratoderma, Palmoplantar |
rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561 |
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Renal carcinoma |
Renal Cell Carcinoma |
rs121913668, rs121913670, rs121913243, rs786202724 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Hodgkin disease |
Hodgkin Disease |
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Keratosis palmoplantaris papulosa |
Keratosis palmoplantaris papulosa |
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22972947 |
Pancreatic neoplasm |
Pancreatic Neoplasm |
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Punctate palmoplantar keratoderma |
Punctate palmoplantar keratoderma type 1 |
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Bladder carcinoma |
Transitional cell carcinoma of bladder |
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