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 produc... See more...

Aliases for COL15A1 Gene

Aliases for COL15A1 Gene

  • Collagen Type XV Alpha 1 Chain 2 3 5
  • Collagen Type XV Proteoglycan 2 3
  • Collagen Alpha-1(XV) Chain 3 4
  • Collagen, Type XV, Alpha 1 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 Chain) is a Protein Coding gene. Diseases associated with COL15A1 include Basal Laminar Drusen and Dupuytren Contracture. Among its related pathways are Degradation of the extracellular matrix and ERK Signaling. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for COL15A1 Gene

Genomics for COL15A1 Gene

GeneHancer (GH) Regulatory Elements for COL15A1 Gene

Promoters and enhancers for COL15A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J098942 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 776.1 +1.3 1315 3.4 L3MBTL2 GMEB1 REST ZBTB8A ZEB2 POLR2A MTA2 ZBTB20 EZH2 MGA COL15A1 ENSG00000270412 lnc-ANKS6-4
GH09J098941 Enhancer 0.3 Ensembl dbSUPER 750.6 -1.5 -1478 0.2 COL15A1 lnc-COL15A1-1
GH09J097979 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.2 -959.4 -959373 8.3 SIN3A ZBTB40 SP1 CTCF RBPJ POLR2A HCFC1 MYC CC2D1A HLF ANP32B lnc-HEMGN-4 NCBP1 ZNF782 MFSD14C NANS ZNF322P1 COL15A1 TSTD2 GABBR2
GH09J098848 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 27.9 -94.5 -94492 1.2 ZBTB40 CTCF MLX CC2D1A ELF1 L3MBTL2 MAX RAD21 TEAD4 GTF2F1 COL15A1 ENSG00000270412 GALNT12 lnc-GALNT12-1 LOC102724684
GH09J098860 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -78.5 -78546 7.7 CTCF SMARCE1 MYC CC2D1A L3MBTL2 MAX RAD21 DACH1 TEAD4 ZKSCAN8 RF00017-7766 COL15A1 ENSG00000270412 lnc-GALNT12-1 LOC102724684
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL15A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL15A1 gene promoter:
  • Brachyury
  • c-Ets-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • CUTL1
  • HNF-4alpha1
  • HNF-4alpha2
  • Lhx3a
  • LHX3b

Genomic Locations for COL15A1 Gene

Genomic Locations for COL15A1 Gene
chr9:98,943,179-99,070,792
(GRCh38/hg38)
Size:
127,614 bases
Orientation:
Plus strand
chr9:101,705,461-101,833,069
(GRCh37/hg19)
Size:
127,609 bases
Orientation:
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:
    P39059-COFA1_HUMAN
    Recommended name:
    Collagen alpha-1(XV) chain
    Protein Accession:
    P39059
    Secondary Accessions:
    • Q5T6J4
    • Q9UDC5
    • Q9Y4W4

    Protein attributes for COL15A1 Gene

    Size:
    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

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • O-glycosylated; with core 1 or possibly core 8 glycans. An N-terminal peptide contains chondroitin sulfate.
  • Glycosylation at Thr265, Asn306, Asn324, Asn687, Asn807, Asn814, and Asn1046
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • COFA1_HUMAN (727)

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

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

Suggested Antigen Peptide Sequences for COL15A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XV) chain (COFA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P39059

UniProtKB/Swiss-Prot:

COFA1_HUMAN :
  • Belongs to the multiplexin collagen family.
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

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.
GENATLAS Biochemistry:
collagen,type XV,alpha 1,multiplexin family with interrupted helical domain

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 IBA 21873635
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
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

CRISPR 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

COMPARTMENTS
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 0

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:0005581 collagen trimer IEA --
GO:0005582 collagen type XV trimer TAS 9651385
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with COL15A1: view

Pathways & Interactions for COL15A1 Gene

PathCards logo

SuperPathways for COL15A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Degradation of the extracellular matrix
5 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with COL15A1: view

Pathways by source for COL15A1 Gene

15 Qiagen pathways for COL15A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

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 --
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

mRNA/cDNA for COL15A1 Gene

CRISPR Products

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
COL15A1
ECgene alternative splicing isoforms for
COL15A1

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, 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:

COL15A1

SOURCE GeneReport for Unigene cluster for COL15A1 Gene:

Hs.409034

mRNA Expression by UniProt/SwissProt for COL15A1 Gene:

P39059-COFA1_HUMAN
Tissue specificity: Expressed predominantly in internal organs such as adrenal gland, pancreas and kidney.

Evidence on tissue expression from TISSUES for COL15A1 Gene

  • Muscle(2.4)
  • 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
chimpanzee
(Pan troglodytes)
Mammalia COL15A1 33 32
  • 99.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL15A1 33 32
  • 84.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL15A1 33 32
  • 84.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Col15a1 17 33 32
  • 78.09 (n)
oppossum
(Monodelphis domestica)
Mammalia COL15A1 33
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL15A1 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL15A1 33
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL15A1 33
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col15a1b 33 32
  • 56.54 (n)
OneToMany
COL15A1 (2 of 2) 33
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mp 33 32
  • 47.67 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cle-1 33 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 34 (a)
OneToMany
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

ENSEMBL:
Gene Tree for COL15A1 (if available)
TreeFam:
Gene Tree for COL15A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL15A1: view image

Paralogs for COL15A1 Gene

Variants for COL15A1 Gene

Sequence variations from dbSNP and Humsavar for COL15A1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000017206 -- 99,038,774(+) G/A intron_variant
rs1000056807 -- 99,065,031(+) T/C intron_variant
rs1000062996 -- 99,040,340(+) G/C intron_variant
rs1000069646 -- 99,039,159(+) T/G intron_variant
rs1000070582 -- 98,998,502(+) C/G intron_variant

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

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

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)

Additional Variant Information for COL15A1 Gene

Human Gene Mutation Database (HGMD)
COL15A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL15A1

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
  • drusen of bruch membrane
dupuytren contracture
  • dupuytren contracture 1
brittle cornea syndrome 2
  • fragilitas oculi with joint hyperextensibility
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL15A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 56
  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 43 56
  3. Polymorphisms in COL15 gene are not associated with systemic sclerosis. (PMID: 18203317) Pushpakom SP … Worthington J (The Journal of rheumatology 2008) 3 43 56
  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 56
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 56

Products for COL15A1 Gene

  • Biorbyt antibodies for COL15A1

Sources for COL15A1 Gene