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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
60
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs140851301 RCV005933277
COL15A1-related disorder Likely benign; Benign rs41313325, rs41308900, rs534707257, rs2297603, rs34138827, rs61736750, rs148479358, rs7851787, rs3739800, rs4480177, rs2075663, rs16918128, rs7854112, rs770970455, rs2075662
View all (40 more)
RCV003919231
RCV003966448
RCV003929867
RCV003974520
RCV003974661
RCV003974677
RCV003894025
RCV003979746
RCV003979840
RCV003984665
RCV003984774
RCV003984775
RCV003982459
RCV003903951
RCV003982234
RCV003982239
RCV003982311
RCV003899516
RCV003909366
RCV003897269
RCV003911564
RCV003939820
RCV003939862
RCV003934539
RCV003917137
RCV003927239
RCV003929540
RCV003941462
RCV003951846
RCV003959329
RCV003917384
RCV003936966
RCV003937140
RCV003937236
RCV003951489
RCV003934739
RCV003959050
RCV003971415
RCV003922278
RCV003936908
RCV003949171
RCV003946891
RCV003944660
RCV003954486
RCV003954592
RCV003979027
RCV003964366
RCV003964376
RCV003982119
RCV003959436
RCV003971664
RCV003972175
RCV003970718
RCV003895400
RCV003920753
RCV003923108
Familial cancer of breast Likely benign rs140851301 RCV005933276
Hepatocellular carcinoma Uncertain significance rs140757478 RCV005926946
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alveolar capillary dysplasia Associate 38029923
Aortic Aneurysm Thoracic Associate 28550590
Asthma Associate 31952466
Atherosclerosis Associate 23912340
Atrial Fibrillation Associate 37967346
Basal Laminar Drusen Associate 27007659
Carcinoma Ovarian Epithelial Associate 25134534
Carcinoma Renal Cell Associate 20154727
Fibrosis Associate 33922101
Idiopathic Pulmonary Fibrosis Associate 31952466