Gene Gene information from NCBI Gene database.
Entrez ID 1306
Gene name Collagen type XV alpha 1 chain
Gene symbol COL15A1
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q22.33
Summary This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement memb
miRNA miRNA information provided by mirtarbase database.
147
miRTarBase ID miRNA Experiments Reference
MIRT001925 hsa-miR-29c-3p Luciferase reporter assayqRT-PCR 18390668
MIRT001925 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT017996 hsa-miR-335-5p Microarray 18185580
MIRT001925 hsa-miR-29c-3p Reporter assay;Other 18390668
MIRT029496 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
GO:0005582 Component Collagen type XV trimer TAS 9651385
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120325 2192 ENSG00000204291
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P39059
Protein name Collagen alpha-1(XV) chain [Cleaved into: Restin (Endostatin-XV) (Related to endostatin) (Restin-I); Restin-2 (Restin-II); Restin-3 (Restin-III); Restin-4 (Restin-IV)]
Protein function Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle. ; Restin potently inhibits angiogenesis.
PDB 3N3F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13385 Laminin_G_3 76 235 Domain
PF01391 Collagen 617 681 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 673 735 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 820 868 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 877 929 Collagen triple helix repeat (20 copies) Repeat
PF06482 Endostatin 1133 1200 Collagenase NC10 and Endostatin Domain
PF06482 Endostatin 1192 1383 Collagenase NC10 and Endostatin Domain
Tissue specificity TISSUE SPECIFICITY: Detected in fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). Detected in placenta (at protein level) (PubMed:32337544). Expressed predominantly in internal organs such as adrenal gland, panc
Sequence
MAPRRNNGQCWCLLMLLSVSTPLPAVTQTRGATETASQGHLDLTQLIGVPLPSSVSFVTG
YGGFPAYSFGPGANVGRPARTLIPSTFFRDFAISVVVKPSSTRGGVLFAITDAFQKVIYL
GLRLSGVEDGHQRIILYYTEPGSHVSQEAAAFSVPVMTHRWNRFAMIVQGEEVTLLVNCE
EHSRIPFQRSSQALAFESSAGIFMGNAGATGLERFTGSLQQLTVHPDPRTPEELC
DPEES
SASGETSGLQEADGVAEILEAVTYTQASPKEAKVEPINTPPTPSSPFEDMELSGEPVPEG
TLETTNMSIIQHSSPKQGSGEILNDTLEGVHSVDGDPITDSGSGAGAFLDIAEEKNLAAT
AAGLAEVPISTAGEAEASSVPTGGPTLSMSTENPEEGVTPGPDNEERLAATAAGEAEALA
SMPGEVEASGVAPGELDLSMSAQSLGEEATVGPSSEDSLTTAAAATEVSLSTFEDEEASG
VPTDGLAPLTATMAPERAVTSGPGDEEDLAAATTEEPLITAGGEESGSPPPDGPPLPLPT
VAPERWITPAQREHVGMKGQAGPKGEKGDAGEELPGPPEPSGPVGPTAGAEAEGSGLGWG
SDVGSGSGDLVGSEQLLRGPPGPPGPPGLPGIPGKPGTDVFMGPPGSPGEDGPAGEPGPP
GPEGQPGVDGAT
GLPGMKGEKGARGPNGSVGEKGDPGNRGLPGPPGKKGQAGPPGVMGPP
GPPGPPGPPGPGCTM
GLGFEDTEGSGSTQLLNEPKLSRPTAAIGLKGEKGDRGPKGERGM
DGASIVGPPGPRGPPGHIKVLSNSLINITHGFMNFSDIPELVGPPGPDGLPGLPGFPGPR
GPKGDTGLPGFPGLKGEQGEKGEPGAIL
TEDIPLERLMGKKGEPGMHGAPGPMGPKGPPG
HKGEFGLPGRPGRPGLNGLKGTKGDPGVI
MQGPPGLPGPPGPPGPPGAVINIKGAIFPIP
VRPHCKMPVDTAHPGSPELITFHGVKGEKGSWGLPGSKGEKGDQGAQGPPGPPLDLAYLR
HFLNNLKGENGDKGFKGEKGEKGDINGSFLMSGPPGLPGNPGPAGQKGETVVGPQGPPGA
PGLPGPPGFGRPGDPGPPGPPGPPGPPAILGAAVALPGPPGPPGQPGLPGSRNLVTAFSN
MDDMLQKAHLVIEGTFIYLRDSTEFFIRVRDGWKKLQLGELIPIPADSPPP
PALSSNPHQ
LLPPPNPISSANYEKPALHLAALNMPFSGDIRADFQCFKQARAAGLLSTYRAFLSSHLQD
LSTIVRKAERYSLPIVNLKGQVLFNNWDSIFSGHGGQFNMHIPIYSFDGRDIMTDPSWPQ
KVIWHGSSPHGVRLVDNYCEAWRTADTAVTGLASPLSTGKILDQKAYSCANRLIVLCIEN
SFM
TDARK
Sequence length 1388
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Collagen chain trimerization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alveolar capillary dysplasia Alveolar capillary dysplasia Pubtator 38029923 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 28550590 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23912340, 28283548
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 31952466 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 23912340, 28283548
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 23912340 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 37967346 Associate
★☆☆☆☆
Found in Text Mining only
BASAL LAMINAR DRUSEN (disorder) Basal Laminar Drusen BEFREE 27007659
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25972084
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 25134534 Associate
★☆☆☆☆
Found in Text Mining only