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Aliases for COL15A1 Gene

Aliases for COL15A1 Gene

  • Collagen Type XV Alpha 1 Chain 2 3 5
  • Collagen Type XV Proteoglycan 2 3
  • Collagen, Type XV, Alpha 1 2 3
  • Collagen XV, Alpha-1 Polypeptide 3
  • Collagen Alpha-1(XV) Chain 3
  • Endostatin-XV 3
  • Restin 3

External Ids for COL15A1 Gene

Previous GeneCards Identifiers for COL15A1 Gene

  • GC09P092506
  • GC09P093449
  • GC09P095163
  • GC09P097086
  • GC09P098785
  • GC09P100746
  • GC09P101705
  • GC09P071304

Summaries for COL15A1 Gene

Entrez Gene Summary for COL15A1 Gene

  • 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 membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]

GeneCards Summary for COL15A1 Gene

COL15A1 (Collagen Type XV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL15A1 include Basal Laminar Drusen and Brittle Cornea Syndrome 2. Among its related pathways are Degradation of the extracellular matrix and Phospholipase-C Pathway. GO annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL18A1.

UniProtKB/Swiss-Prot for COL15A1 Gene

  • Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle.

  • Restin potently inhibits angiogenesis.

Gene Wiki entry for COL15A1 Gene

Additional gene information for COL15A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL15A1 Gene

Genomics for COL15A1 Gene

Regulatory Elements for COL15A1 Gene

Enhancers for COL15A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H098957 1.1 Ensembl ENCODE dbSUPER 28.8 +17.0 16988 6 NFIC JUND GATA2 POU5F1 FOS PRDM10 RAD21 MAFK COL15A1 ENSG00000270412 TGFBR1
GH09H098934 1.1 FANTOM5 ENCODE 27.7 -8.0 -7960 1 HDAC1 TAL1 FOSL1 CCNT2 TCF12 ZNF766 MTA3 CTBP1 GATA2 NCOR1 COL15A1 LOC100288125
GH09H098942 1.1 ENCODE dbSUPER 26.2 +0.7 726 2.2 RB1 EGR1 ATF7 EGR2 ZEB2 REST ZBTB33 ZBTB26 MGA BCOR COL15A1 ENSG00000270412 TGFBR1
GH09H098970 1.4 Ensembl ENCODE dbSUPER 17.8 +31.4 31374 8.2 ZNF2 ZNF143 FOS ATF7 REST SMARCB1 ZNF592 SMARCA4 GLIS1 NR2C1 COL15A1 STX17 ENSG00000270412 TGFBR1
GH09H098884 1.4 Ensembl ENCODE dbSUPER 17.3 -57.3 -57254 3.3 HDAC1 PKNOX1 ATF1 TBL1XR1 TCF12 ZNF766 GATA2 ELK1 SIRT6 ATF7 COL15A1 LOC100288125 LOC102724684
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL15A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL15A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238729 721 201 ZNF777 RB1 CCNT2 ZFHX2 MTA3 CTBP1 ATF7 ZBTB20 EGR2 EZH2

Genomic Locations for COL15A1 Gene

Genomic Locations for COL15A1 Gene
127,614 bases
Plus strand

Genomic View for COL15A1 Gene

Genes around COL15A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL15A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL15A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL15A1 Gene

Proteins for COL15A1 Gene

  • Protein details for COL15A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(XV) chain
    Protein Accession:
    Secondary Accessions:
    • Q5T6J4
    • Q9UDC5
    • Q9Y4W4

    Protein attributes for COL15A1 Gene

    1388 amino acids
    Molecular mass:
    141720 Da
    Quaternary structure:
    • Trimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for COL15A1 Gene

neXtProt entry for COL15A1 Gene

Post-translational modifications for COL15A1 Gene

  • O-glycosylated; with core 1 or possibly core 8 glycans. An N-terminal peptide contains chondroitin sulfate.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at posLast=265265, Asn306, Asn324, posLast=687687, posLast=807807, Asn814, and posLast=10461046
  • Modification sites at PhosphoSitePlus

Other Protein References for COL15A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL15A1 Gene

Domains & Families for COL15A1 Gene

Gene Families for COL15A1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for COL15A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the multiplexin collagen family.
  • Belongs to the multiplexin collagen family.
genes like me logo Genes that share domains with COL15A1: view

Function for COL15A1 Gene

Molecular function for COL15A1 Gene

GENATLAS Biochemistry:
collagen,type XV,alpha 1,multiplexin family with interrupted helical domain
UniProtKB/Swiss-Prot Function:
Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle.
UniProtKB/Swiss-Prot Function:
Restin potently inhibits angiogenesis.

Phenotypes From GWAS Catalog for COL15A1 Gene

Gene Ontology (GO) - Molecular Function for COL15A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005201 extracellular matrix structural constituent IC 9651385
genes like me logo Genes that share ontologies with COL15A1: view
genes like me logo Genes that share phenotypes with COL15A1: view

Animal Models for COL15A1 Gene

MGI Knock Outs for COL15A1:

Animal Model Products

miRNA for COL15A1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COL15A1 Gene

Localization for COL15A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL15A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL15A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 2
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL15A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005582 collagen type XV trimer TAS 9651385
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with COL15A1: view

Pathways & Interactions for COL15A1 Gene

genes like me logo Genes that share pathways with COL15A1: view

Gene Ontology (GO) - Biological Process for COL15A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007155 cell adhesion IC,IEA 9651385
GO:0007165 signal transduction NAS 10891348
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with COL15A1: view

No data available for SIGNOR curated interactions for COL15A1 Gene

Drugs & Compounds for COL15A1 Gene

No Compound Related Data Available

Transcripts for COL15A1 Gene

Unigene Clusters for COL15A1 Gene

Collagen, type XV, alpha 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL15A1 Gene

No ASD Table

Relevant External Links for COL15A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL15A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL15A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL15A1 Gene

This gene is overexpressed in Adipocyte (24.7) and Urine (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL15A1 Gene

Protein tissue co-expression partners for COL15A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL15A1 Gene:


SOURCE GeneReport for Unigene cluster for COL15A1 Gene:


mRNA Expression by UniProt/SwissProt for COL15A1 Gene:

Tissue specificity: Expressed predominantly in internal organs such as adrenal gland, pancreas and kidney.

Evidence on tissue expression from TISSUES for COL15A1 Gene

  • Muscle(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with COL15A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL15A1 Gene

Orthologs for COL15A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL15A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COL15A1 33 34
  • 99.23 (n)
(Bos Taurus)
Mammalia COL15A1 33 34
  • 84.36 (n)
(Canis familiaris)
Mammalia COL15A1 33 34
  • 84.09 (n)
(Mus musculus)
Mammalia Col15a1 33 16 34
  • 78.09 (n)
(Monodelphis domestica)
Mammalia COL15A1 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia COL15A1 34
  • 57 (a)
(Gallus gallus)
Aves COL15A1 34
  • 48 (a)
(Anolis carolinensis)
Reptilia COL15A1 34
  • 54 (a)
(Danio rerio)
Actinopterygii col15a1b 33 34
  • 56.54 (n)
COL15A1 (2 of 2) 34
  • 54 (a)
fruit fly
(Drosophila melanogaster)
Insecta mp 33 34
  • 47.67 (n)
(Caenorhabditis elegans)
Secernentea cle-1 35 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
Species where no ortholog for COL15A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for COL15A1 Gene

Gene Tree for COL15A1 (if available)
Gene Tree for COL15A1 (if available)

Paralogs for COL15A1 Gene

Paralogs for COL15A1 Gene

genes like me logo Genes that share paralogs with COL15A1: view

Variants for COL15A1 Gene

Sequence variations from dbSNP and Humsavar for COL15A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000017206 -- 99,038,774(+) ACCCA(A/G)ACGCC intron-variant
rs1000056807 -- 99,065,031(+) TTGAG(C/T)GTTAT intron-variant
rs1000062996 -- 99,040,340(+) TCACT(C/G)TCCTC intron-variant
rs1000069646 -- 99,039,159(+) GGAAA(G/T)TATCT intron-variant
rs1000070582 -- 98,998,502(+) TAGCC(C/G)CCTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL15A1 Gene

Variant ID Type Subtype PubMed ID
nsv6635 CNV deletion 18451855
nsv614954 CNV loss 21841781
nsv614953 CNV loss 21841781
nsv528933 CNV loss 19592680
nsv466442 CNV loss 19166990
nsv1115840 CNV duplication 24896259
esv3621218 CNV loss 21293372
esv3621214 CNV gain 21293372
esv3339933 CNV insertion 20981092
esv3305772 CNV mobile element insertion 20981092
esv2738827 CNV deletion 23290073

Variation tolerance for COL15A1 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.44; 92.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL15A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL15A1 Gene

Disorders for COL15A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COL15A1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
basal laminar drusen
  • cuticular drusen
brittle cornea syndrome 2
  • brittle cornea syndrome
dupuytren contracture
  • contraction of palmar fascia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COL15A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COL15A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL15A1 Gene

Publications for COL15A1 Gene

  1. Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. (PMID: 1427836) Huebner K … Myers JC (Genomics 1992) 2 3 4 60
  2. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 45 60
  3. Polymorphisms in COL15 gene are not associated with systemic sclerosis. (PMID: 18203317) Pushpakom SP … Worthington J (The Journal of rheumatology 2008) 3 45 60
  4. Identification and characterization of novel endogenous proteolytic forms of the human angiogenesis inhibitors restin and endostatin. (PMID: 15698950) John H … Forssmann WG (Biochimica et biophysica acta 2005) 3 4 60
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60

Products for COL15A1 Gene

Sources for COL15A1 Gene

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