Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COL5A3 Gene

Aliases for COL5A3 Gene

  • Collagen Type V Alpha 3 2 3
  • Collagen, Type V, Alpha 3 2 5

External Ids for COL5A3 Gene

Previous GeneCards Identifiers for COL5A3 Gene

  • GC19M010191
  • GC19M010293
  • GC19M009916
  • GC19M010071
  • GC19M009650

Summaries for COL5A3 Gene

Entrez Gene Summary for COL5A3 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. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL5A3 Gene

COL5A3 (Collagen Type V Alpha 3) is a Protein Coding gene. Diseases associated with COL5A3 include Ehlers-Danlos Syndrome, Type Iii. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. 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 COL5A3 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 COL5A3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL5A3 Gene

Genomics for COL5A3 Gene

Regulatory Elements for COL5A3 Gene

Enhancers for COL5A3 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 COL5A3 on UCSC Golden Path with GeneCards custom track

Promoters for COL5A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL5A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL5A3 Gene

Chromosome:
19
Start:
9,959,561 bp from pter
End:
10,010,538 bp from pter
Size:
50,978 bases
Orientation:
Minus strand

Genomic View for COL5A3 Gene

Genes around COL5A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL5A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL5A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL5A3 Gene

Proteins for COL5A3 Gene

  • Protein details for COL5A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25940-CO5A3_HUMAN
    Recommended name:
    Collagen alpha-3(V) chain
    Protein Accession:
    P25940
    Secondary Accessions:
    • Q9NZQ6

    Protein attributes for COL5A3 Gene

    Size:
    1745 amino acids
    Molecular mass:
    172121 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.

neXtProt entry for COL5A3 Gene

Proteomics data for COL5A3 Gene at MOPED

Post-translational modifications for COL5A3 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn 102 and Asn 141
  • Modification sites at PhosphoSitePlus

Other Protein References for COL5A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL5A3 Gene

Domains & Families for COL5A3 Gene

Gene Families for COL5A3 Gene

Suggested Antigen Peptide Sequences for COL5A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25940

UniProtKB/Swiss-Prot:

CO5A3_HUMAN :
  • Contains 6 collagen-like domains.
  • Belongs to the fibrillar collagen family.
Domain:
  • Contains 6 collagen-like domains.
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL5A3: view

Function for COL5A3 Gene

Molecular function for COL5A3 Gene

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.

Gene Ontology (GO) - Molecular Function for COL5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 10722718
genes like me logo Genes that share ontologies with COL5A3: view
genes like me logo Genes that share phenotypes with COL5A3: view

Animal Models for COL5A3 Gene

MGI Knock Outs for COL5A3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COL5A3 Gene

Localization for COL5A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL5A3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL5A3 Gene COMPARTMENTS Subcellular localization image for COL5A3 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with COL5A3: view

Pathways & Interactions for COL5A3 Gene

genes like me logo Genes that share pathways with COL5A3: view

Pathways by source for COL5A3 Gene

Gene Ontology (GO) - Biological Process for COL5A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL5A3: view

No data available for SIGNOR curated interactions for COL5A3 Gene

Drugs & Compounds for COL5A3 Gene

No Compound Related Data Available

Transcripts for COL5A3 Gene

mRNA/cDNA for COL5A3 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(72) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL5A3 Gene

Collagen, type V, alpha 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL5A3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
SP1:
SP2:

ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67
SP1: - -
SP2:

Relevant External Links for COL5A3 Gene

GeneLoc Exon Structure for
COL5A3
ECgene alternative splicing isoforms for
COL5A3

Expression for COL5A3 Gene

mRNA expression in normal human tissues for COL5A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL5A3 Gene

This gene is overexpressed in Brain (18.0), Adipocyte (16.1), Lung (8.9), and Bone marrow mesenchymal stem cell (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL5A3 Gene



SOURCE GeneReport for Unigene cluster for COL5A3 Gene Hs.235368

genes like me logo Genes that share expression patterns with COL5A3: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for COL5A3 Gene

Orthologs for COL5A3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL5A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COL5A3 35
  • 85.97 (n)
  • 87.04 (a)
COL5A3 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL5A3 35
  • 87.98 (n)
  • 88.88 (a)
COL5A3 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col5a3 35
  • 80.77 (n)
  • 82.56 (a)
Col5a3 16
Col5a3 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COL5A3 35
  • 95.98 (n)
  • 95.44 (a)
COL5A3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col5a3 35
  • 80.74 (n)
  • 82.85 (a)
oppossum
(Monodelphis domestica)
Mammalia COL5A3 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL5A3 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL5A3 36
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col5a3a 36
  • 60 (a)
OneToMany
col5a3b 36
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for COL5A3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COL5A3 Gene

ENSEMBL:
Gene Tree for COL5A3 (if available)
TreeFam:
Gene Tree for COL5A3 (if available)

Paralogs for COL5A3 Gene

(13) SIMAP similar genes for COL5A3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with COL5A3: view

Variants for COL5A3 Gene

Sequence variations from dbSNP and Humsavar for COL5A3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2303098 - 10,005,832(-) CTTCC(A/G)CCCCC reference, missense
rs2287813 - 9,973,616(-) TGAGC(A/C/G)AGGGG reference, missense
rs3815746 - 9,968,417(-) CAGGC(A/C/G)TGCAG reference, missense
rs3745581 - 9,966,314(+) CTCAC(C/G)ATCTC reference, missense
rs2277969 - 9,960,671(-) TCAGC(A/G)TCCCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL5A3 Gene

Variant ID Type Subtype PubMed ID
nsv520683 CNV Loss 19592680
nsv833742 CNV Loss 17160897
esv2667691 CNV Deletion 23128226
esv2718163 CNV Deletion 23290073
esv2718164 CNV Deletion 23290073
esv2718165 CNV Deletion 23290073
esv1205344 CNV Deletion 17803354
esv1171542 CNV Insertion 17803354
esv2718166 CNV Deletion 23290073
esv2406867 CNV Deletion 18987734
esv2659051 CNV Deletion 23128226
esv1756302 CNV Deletion 17803354
dgv3724n71 CNV Gain 21882294
esv2718167 CNV Deletion 23290073

Variation tolerance for COL5A3 Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.12; 99.81% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for COL5A3 Gene

Disorders for COL5A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COL5A3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, type iii
  • type iii ehlers-danlos syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COL5A3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL5A3
genes like me logo Genes that share disorders with COL5A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL5A3 Gene

Publications for COL5A3 Gene

  1. The pro-alpha3 (V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. (PMID: 10722718) Imamura Y. … Greenspan D.S. (J. Biol. Chem. 2000) 2 3 4 67
  2. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  3. The use of growth hormone (GH)-dependent markers in the detection of GH abuse in sport: Physiological intra-individual variation of IGF-I, type 3 pro-collagen (P-III-P) and the GH-2000 detection score. (PMID: 19650783) Erotokritou-Mulligan I. … Holt R.I. (Clin. Endocrinol. (Oxf) 2010) 23
  4. Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome. (PMID: 19012342) Hoffman G.G. … Greenspan D.S. (Am. J. Med. Genet. A 2008) 3
  5. Validation of the growth hormone (GH)-dependent marker method of detecting GH abuse in sport through the use of independent data sets. (PMID: 17584513) Erotokritou-Mulligan I. … Holt R.I. (Growth Horm. IGF Res. 2007) 23

Products for COL5A3 Gene

Sources for COL5A3 Gene

Content