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Aliases for COL15A1 Gene

Aliases for COL15A1 Gene

  • Collagen Type XV Alpha 1 2 3
  • Collagen, Type XV, Alpha 1 2 3 5
  • Collagen Type XV Proteoglycan 2 3
  • Collagen XV, Alpha-1 Polypeptide 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) is a Protein Coding gene. Diseases associated with COL15A1 include Ehlers-Danlos Syndrome, Type Vi. Among its related pathways are ERK Signaling 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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around COL15A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL15A1 Gene

98,943,179 bp from pter
99,070,792 bp from pter
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

Proteomics data for COL15A1 Gene at MOPED

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 Thr 265, Asn 306, Asn 324, Asn 687, Asn 807, Asn 814, and Asn 1046
  • 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

Suggested Antigen Peptide Sequences for COL15A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 4 collagen-like domains.
  • Belongs to the multiplexin collagen family.
  • Contains 4 collagen-like domains.
  • Contains 1 laminin G-like domain.
  • 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.
genes like me logo Genes that share phenotypes with COL15A1: view

Animal Models for COL15A1 Gene

MGI Knock Outs for COL15A1:

Animal Model Products

CRISPR Products

miRNA for COL15A1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Jensen Localization Image for COL15A1 Gene COMPARTMENTS Subcellular localization image for COL15A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 2
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL15A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005582 collagen type XV trimer TAS 9651385
GO:0005604 basement membrane IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 colocalizes_with extracellular matrix IEA,ISS 22261194
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

Interacting Proteins for COL15A1 Gene

Gene Ontology (GO) - Biological Process for COL15A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007155 cell adhesion IEA,IC 9651385
GO:0007165 signal transduction NAS 10891348
GO:0022617 extracellular matrix disassembly TAS --
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:

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 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, MOPED, and MaxQB for COL15A1 Gene

SOURCE GeneReport for Unigene cluster for COL15A1 Gene Hs.409034

mRNA Expression by UniProt/SwissProt for COL15A1 Gene

Tissue specificity: Expressed predominantly in internal organs such as adrenal gland, pancreas and kidney.
genes like me logo Genes that share expression patterns with COL15A1: view

Protein tissue co-expression partners for COL15A1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues 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
(Bos Taurus)
Mammalia COL15A1 35
  • 84.36 (n)
  • 81.44 (a)
COL15A1 36
  • 78 (a)
(Canis familiaris)
Mammalia COL15A1 35
  • 84.09 (n)
  • 82.14 (a)
COL15A1 36
  • 79 (a)
(Mus musculus)
Mammalia Col15a1 35
  • 78.09 (n)
  • 76.95 (a)
Col15a1 16
Col15a1 36
  • 71 (a)
(Pan troglodytes)
Mammalia COL15A1 35
  • 99.23 (n)
  • 98.8 (a)
COL15A1 36
  • 95 (a)
(Monodelphis domestica)
Mammalia COL15A1 36
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia COL15A1 36
  • 57 (a)
(Gallus gallus)
Aves COL15A1 36
  • 48 (a)
(Anolis carolinensis)
Reptilia COL15A1 36
  • 54 (a)
(Danio rerio)
Actinopterygii col15a1b 35
  • 56.54 (n)
  • 53.2 (a)
COL15A1 (2 of 2) 36
  • 54 (a)
col15a1b 36
  • 46 (a)
fruit fly
(Drosophila melanogaster)
Insecta mp 35
  • 47.67 (n)
  • 39.15 (a)
mp 36
  • 31 (a)
(Caenorhabditis elegans)
Secernentea cle-1 37
  • 33 (a)
cle-1 36
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
Species with no ortholog for COL15A1:
  • 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
rs2075662 - 98,985,952(+) GAACC(A/G)CTTCG reference, missense
rs2075663 - 98,986,074(+) TCTTC(A/C/G)TGGGC reference, missense
rs10988532 - 99,003,559(+) GTCCA(C/T)GGAGA reference, missense
rs16918128 - 99,005,021(+) TGTCC(A/G)CCCAG reference, missense
rs35934703 - 99,005,033(+) GCCTC(A/C/G)GGGAA reference, missense

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

Variant ID Type Subtype PubMed ID
esv2738827 CNV Deletion 23290073
nsv6635 CNV Loss 18451855
esv270049 CNV Insertion 20981092
nsv528933 CNV Loss 19592680
nsv466442 CNV Loss 19166990
nsv893618 CNV Gain 21882294

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)

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

Disorders for COL15A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COL15A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, type vi
  • type vi ehlers-danlos syndrome
- 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 J.C. (Genomics 1992) 2 3 4 67
  2. Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. (PMID: 25134534) Chen K. … Wei Q. (Nat Commun 2014) 3
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  4. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S. … Drake R.R. (Proteomics 2013) 3
  5. Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. (PMID: 23621901) Wiggs J.L. … John S.W. (Clin. Genet. 2013) 3

Products for COL15A1 Gene

Sources for COL15A1 Gene