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Aliases for COL5A1 Gene

Aliases for COL5A1 Gene

  • Collagen, Type V, Alpha 1 2 3
  • Alpha 1 Type V Collagen 2
  • EC 63
  • EC 6.1.1 63

External Ids for COL5A1 Gene

Summaries for COL5A1 Gene

Entrez Gene Summary for COL5A1 Gene

  • This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for COL5A1 Gene

COL5A1 (Collagen, Type V, Alpha 1) is a Protein Coding gene. Diseases associated with COL5A1 include ehlers-danlos syndrome, type ii and ehlers-danlos syndrome, classic type, col5a1-related. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL5A1 Gene

  • Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin

Gene Wiki entry for COL5A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL5A1 Gene

Genomics for COL5A1 Gene

Genomic Location for COL5A1 Gene

134,641,774 bp from pter
134,844,843 bp from pter
203,070 bases
Plus strand

Genomic View for COL5A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL5A1 Gene

Proteins for COL5A1 Gene

  • Protein details for COL5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(V) chain
    Protein Accession:
    Secondary Accessions:
    • Q15094
    • Q5SUX4

    Protein attributes for COL5A1 Gene

    1838 amino acids
    Molecular mass:
    183560 Da
    Quaternary structure:
    • Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. Interacts with CSPG4.

    Three dimensional structures from OCA and Proteopedia for COL5A1 Gene

neXtProt entry for COL5A1 Gene

Proteomics data for COL5A1 Gene at MOPED

Selected DME Specific Peptides for COL5A1 Gene

Post-translational modifications for COL5A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Sulfated on 40% of tyrosines
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COL5A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for COL5A1 Gene

Gene Families for COL5A1 Gene


Graphical View of Domain Structure for InterPro Entry



  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).:
    • P20908
  • Contains 1 fibrillar collagen NC1 domain.:
    • P20908
  • Contains 1 laminin G-like domain.:
    • P20908
  • Belongs to the fibrillar collagen family.:
    • P20908
genes like me logo Genes that share domains with COL5A1: view

Function for COL5A1 Gene

Molecular function for COL5A1 Gene

GENATLAS Biochemistry: collagen type V,alpha 1,fibril forming,incorporated into,and contributing to regulate the shape and diameter of type I collagen fibrils;cleaved by BMP1 within the large globular N-propeptide
UniProtKB/Swiss-Prot Function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin

Enzyme Numbers (IUBMB) for COL5A1 Gene

Gene Ontology (GO) - Molecular Function for COL5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding NAS 14970208
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding --
GO:0008201 heparin binding IDA 2203476
GO:0043394 proteoglycan binding IPI 9099729
genes like me logo Genes that share ontologies with COL5A1: view
genes like me logo Genes that share phenotypes with COL5A1: view

Animal Models for COL5A1 Gene

MGI Knock Outs for COL5A1:

miRNA for COL5A1 Gene

miRTarBase miRNAs that target COL5A1

No data available for Transcription Factor Targeting and HOMER Transcription for COL5A1 Gene

Localization for COL5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL5A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for COL5A1 Gene COMPARTMENTS Subcellular localization image for COL5A1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
plasma membrane 2
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005588 collagen type V trimer IMP 9683580
GO:0005604 basement membrane IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL5A1: view

Pathways for COL5A1 Gene

genes like me logo Genes that share pathways with COL5A1: view

Gene Ontology (GO) - Biological Process for COL5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0007155 cell adhesion IMP 18305566
GO:0007411 axon guidance TAS --
GO:0016477 cell migration IMP 18305566
genes like me logo Genes that share ontologies with COL5A1: view

Transcripts for COL5A1 Gene

Unigene Clusters for COL5A1 Gene

Collagen, type V, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL5A1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP4: -
SP6: - - -
SP10: -
SP13: - -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d ^ 35a · 35b · 35c
SP3: - - - -
SP5: - - - -
SP7: - - - -
SP8: -
SP9: - - - -

Relevant External Links for COL5A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL5A1 Gene

mRNA expression in normal human tissues for COL5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL5A1 Gene

This gene is overexpressed in Uterus (4.2) and Cervix - Ectocervix (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL5A1 Gene

SOURCE GeneReport for Unigene cluster for COL5A1 Gene Hs.210283

genes like me logo Genes that share expressions with COL5A1: view

No data available for mRNA Expression by UniProt/SwissProt for COL5A1 Gene

Orthologs for COL5A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL5A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia COL5A1 36
  • 80 (a)
(Canis familiaris)
Mammalia COL5A1 36
  • 91 (a)
(Mus musculus)
Mammalia Col5a1 35
  • 85.84 (n)
  • 93.13 (a)
Col5a1 16
Col5a1 36
  • 94 (a)
(Monodelphis domestica)
Mammalia COL5A1 36
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia COL5A1 36
  • 92 (a)
(Rattus norvegicus)
Mammalia Col5a1 35
  • 85.86 (n)
  • 93.36 (a)
(Gallus gallus)
Aves COL5A1 35
  • 77.12 (n)
  • 88.4 (a)
COL5A1 36
  • 88 (a)
(Anolis carolinensis)
Reptilia COL5A1 36
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia col5a1 35
  • 73.03 (n)
  • 82.5 (a)
Str.15319 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12219 35
(Danio rerio)
Actinopterygii col5a1 35
  • 73.66 (n)
  • 84.23 (a)
col5a1 36
  • 72 (a)
Dr.17775 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
Species with no ortholog for COL5A1:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL5A1 Gene

Gene Tree for COL5A1 (if available)
Gene Tree for COL5A1 (if available)

Paralogs for COL5A1 Gene

Selected SIMAP similar genes for COL5A1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with COL5A1: view

Variants for COL5A1 Gene

Sequence variations from dbSNP and Humsavar for COL5A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs10895 -- 134,843,746(-) CTGAA(C/T)GGCTT utr-variant-3-prime
rs12722 -- 134,842,570(+) ACCCA(C/T)GCGCC utr-variant-3-prime
rs13946 -- 134,842,386(+) CCTGA(C/T)CCTGG utr-variant-3-prime
rs16399 -- 134,843,389(+) TATCT(-/ATCT)GTTTT utr-variant-3-prime
rs16832 -- 134,690,734(+) CCTCC(A/G)CAGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL5A1 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv428227 CNV Gain 18775914
nsv894187 CNV Loss 21882294
nsv894188 CNV Loss 21882294
nsv894189 CNV Loss 21882294
esv24238 CNV Loss 19812545
nsv513000 CNV Insertion 21212237
nsv894190 CNV Gain 21882294
esv2739233 CNV Deletion 23290073
esv2739234 CNV Deletion 23290073
esv2739235 CNV Deletion 23290073
dgv8352n71 CNV Loss 21882294
nsv894192 CNV Loss 21882294
nsv894193 CNV Loss 21882294
nsv469910 CNV Loss 18288195
dgv1330e201 CNV Deletion 23290073
esv2739237 CNV Deletion 23290073
esv2739238 CNV Deletion 23290073
esv2493043 CNV Insertion 19546169
nsv894195 CNV Gain 21882294
nsv818731 CNV Gain 17921354
esv2743401 CNV Deletion 23290073
dgv8353n71 CNV Loss 21882294
esv2739240 CNV Deletion 23290073
esv1302373 CNV Deletion 17803354
esv2390401 CNV Deletion 18987734
nsv6753 CNV Loss 18451855
nsv466640 CNV Loss 19166990
nsv510207 CNV Loss 20534489
esv2739241 CNV Deletion 23290073
esv2739242 CNV Deletion 23290073
esv2739243 CNV Deletion 23290073
esv1304752 CNV Deletion 17803354
esv2739244 CNV Deletion 23290073
esv2052149 CNV Deletion 18987734
nsv416329 CNV Loss 16902084
esv2739245 CNV Deletion 23290073
dgv8354n71 CNV Loss 21882294
nsv894199 CNV Loss 21882294
esv2739246 CNV Deletion 23290073
esv2739247 CNV Deletion 23290073
nsv894202 CNV Loss 21882294

Relevant External Links for COL5A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL5A1 Gene

Disorders for COL5A1 Gene

(2) OMIM Diseases for COL5A1 Gene (120215)


  • Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269 PubMed:10602121, ECO:0000269 PubMed:15580559, ECO:0000269 PubMed:18972565, ECO:0000269 PubMed:9042913}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. {ECO:0000269 PubMed:11992482}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for COL5A1 Gene

(7) Novoseek inferred disease relationships for COL5A1 Gene

Disease -log(P) Hits PubMed IDs
ehlers-danlos syndrome, type i 95.5 7
ehlers-danlos syndrome, type ii 94.5 6
ehlers-danlos syndrome 92.5 12
nail-patella syndrome 83.7 6
connective tissue diseases 70.7 1

Relevant External Links for COL5A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with COL5A1: view

Publications for COL5A1 Gene

  1. Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. (PMID: 1572660) Greenspan D.S. … Shows T.B. (Genomics 1992) 2 3 23
  2. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. (PMID: 9042913) de Paepe A. … Naeyaert J.-M. (Am. J. Hum. Genet. 1997) 3 4 23
  3. Compound heterozygosity for a disease-causing G1489E and disease- modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? (PMID: 10602121) Giunta C. … Steinmann B. (Am. J. Med. Genet. 2000) 3 4 23
  4. The COL5A1 gene and Achilles tendon pathology. (PMID: 16430677) Mokone G.G. … Collins M. (Scand J Med Sci Sports 2006) 3 23 48
  5. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. (PMID: 18353721) Posthumus M. … Collins M. (J Sci Med Sport 2009) 3 23 48

Products for COL5A1 Gene

Sources for COL5A1 Gene

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