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Aliases for COL3A1 Gene

Aliases for COL3A1 Gene

  • Collagen, Type III, Alpha 1 2 3
  • Ehlers-Danlos Syndrome Type IV, Autosomal Dominant 2 3
  • Collagen Alpha-1(III) Chain 3
  • Alpha1 (III) Collagen 3
  • Collagen, Fetal 3
  • EDS4A 3

External Ids for COL3A1 Gene

Previous HGNC Symbols for COL3A1 Gene

  • EDS4A

Previous GeneCards Identifiers for COL3A1 Gene

  • GC02P187975
  • GC02P188522
  • GC02P189803
  • GC02P190041
  • GC02P189664
  • GC02P189547
  • GC02P181698

Summaries for COL3A1 Gene

Entrez Gene Summary for COL3A1 Gene

  • This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

GeneCards Summary for COL3A1 Gene

COL3A1 (Collagen, Type III, Alpha 1) is a Protein Coding gene. Diseases associated with COL3A1 include ehlers-danlos syndrome, type iii and ehlers-danlos syndrome, type iv. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL5A3.

UniProtKB/Swiss-Prot for COL3A1 Gene

  • Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of GPR56 in the developing brain and binding to GPR56 inhibits neuronal migration and activates the RhoA pathway by coupling GPR56 to GNA13 and possibly GNA12

Gene Wiki entry for COL3A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL3A1 Gene

Genomics for COL3A1 Gene

Regulatory Elements for COL3A1 Gene

Genomic Location for COL3A1 Gene

Start:
188,974,320 bp from pter
End:
189,012,746 bp from pter
Size:
38,427 bases
Orientation:
Plus strand

Genomic View for COL3A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL3A1 Gene

Proteins for COL3A1 Gene

  • Protein details for COL3A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02461-CO3A1_HUMAN
    Recommended name:
    Collagen alpha-1(III) chain
    Protein Accession:
    P02461
    Secondary Accessions:
    • D2JYH5
    • D3DPH4
    • P78429
    • Q15112
    • Q16403
    • Q53S91
    • Q541P8
    • Q6LDB3
    • Q6LDJ2
    • Q6LDJ3
    • Q7KZ56
    • Q8N6U4
    • Q9UC88
    • Q9UC89
    • Q9UC90
    • Q9UC91
    • R4N3C5
    • V9GZI1

    Protein attributes for COL3A1 Gene

    Size:
    1466 amino acids
    Molecular mass:
    138564 Da
    Quaternary structure:
    • Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines

    Three dimensional structures from OCA and Proteopedia for COL3A1 Gene

    Alternative splice isoforms for COL3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL3A1 Gene

Proteomics data for COL3A1 Gene at MOPED

Post-translational modifications for COL3A1 Gene

  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group
  • Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Lys263 and Ser1145
  • Modification sites at PhosphoSitePlus

Other Protein References for COL3A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL3A1 Gene

Domains for COL3A1 Gene

Gene Families for COL3A1 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL3A1 Gene

Graphical View of Domain Structure for InterPro Entry

P02461

UniProtKB/Swiss-Prot:

CO3A1_HUMAN :
  • P02461
Domain:
  • 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
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 VWFC domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL3A1: view

Function for COL3A1 Gene

Molecular function for COL3A1 Gene

GENATLAS Biochemistry: collagen type III,alpha 1,fibril forming,putative down-regulated c-Myc target gene,
UniProtKB/Swiss-Prot Function: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of GPR56 in the developing brain and binding to GPR56 inhibits neuronal migration and activates the RhoA pathway by coupling GPR56 to GNA13 and possibly GNA12

Gene Ontology (GO) - Molecular Function for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding NAS 14970208
GO:0005201 extracellular matrix structural constituent IMP 7487954
GO:0005515 protein binding IPI 16754721
GO:0046332 SMAD binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL3A1: view
genes like me logo Genes that share phenotypes with COL3A1: view

Animal Models for COL3A1 Gene

MGI Knock Outs for COL3A1:

miRNA for COL3A1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL3A1 Gene

Localization for COL3A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL3A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL3A1 Gene COMPARTMENTS Subcellular localization image for COL3A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
lysosome 1

Gene Ontology (GO) - Cellular Components for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005586 collagen type III trimer NAS 1672129
GO:0005615 extracellular space NAS 9036918
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL3A1: view

Pathways for COL3A1 Gene

genes like me logo Genes that share pathways with COL3A1: view

Gene Ontology (GO) - Biological Process for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001568 blood vessel development --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0007160 cell-matrix adhesion IDA 16912226
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 16360482
genes like me logo Genes that share ontologies with COL3A1: view

Compounds for COL3A1 Gene

(1) Drugbank Compounds for COL3A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Collagenase
9001-12-1 target

(8) Novoseek inferred chemical compound relationships for COL3A1 Gene

Compound -log(P) Hits PubMed IDs
nppa 68.3 2
procollagen 51.4 2
nppb 38.7 2
ribonucleic acid 12.1 2
thymidine 0 2
genes like me logo Genes that share compounds with COL3A1: view

Transcripts for COL3A1 Gene

Unigene Clusters for COL3A1 Gene

Collagen, type III, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL3A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3: - - - - - - - - - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - - -
SP7:
SP8:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^
SP1: -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP7:
SP8:

ExUns: 45 ^ 46 ^ 47 ^ 48a · 48b · 48c ^ 49 ^ 50a · 50b ^ 51a · 51b ^ 52a · 52b · 52c · 52d
SP1: -
SP2: -
SP3:
SP4:
SP5: - - - - -
SP6: - - - - - -
SP7:
SP8:

Relevant External Links for COL3A1 Gene

GeneLoc Exon Structure for
COL3A1
ECgene alternative splicing isoforms for
COL3A1

Expression for COL3A1 Gene

mRNA expression in normal human tissues for COL3A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL3A1 Gene

SOURCE GeneReport for Unigene cluster for COL3A1 Gene Hs.443625

genes like me logo Genes that share expressions with COL3A1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL3A1 Gene

Orthologs for COL3A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL3A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL3A1 35
  • 99.86 (n)
  • 100 (a)
COL3A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL3A1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL3A1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col3a1 35
  • 87.63 (n)
  • 90.64 (a)
Col3a1 16
Col3a1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL3A1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL3A1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col3a1 35
  • 87.32 (n)
  • 90.56 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 19 (a)
ManyToMany
COL3A1 35
  • 71.24 (n)
  • 72.68 (a)
lizard
(Anolis carolinensis)
Reptilia COL3A1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col3a1 35
  • 71.72 (n)
  • 74.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 36
  • 49 (a)
OneToMany
Species with no ortholog for COL3A1:
  • 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for COL3A1 Gene

ENSEMBL:
Gene Tree for COL3A1 (if available)
TreeFam:
Gene Tree for COL3A1 (if available)

Paralogs for COL3A1 Gene

genes like me logo Genes that share paralogs with COL3A1: view

Variants for COL3A1 Gene

Sequence variations from dbSNP and Humsavar for COL3A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs8224 -- 189,011,817(+) ACTCC(A/G)TATGT utr-variant-3-prime
rs11162 -- 189,011,862(+) GTGAC(C/T)GACAA utr-variant-3-prime
rs1040186 -- 188,972,652(-) AGACA(A/T)CTCAA upstream-variant-2KB
rs1040187 -- 189,000,947(+) AAAAA(A/G)AGTGC intron-variant
rs1356246 -- 188,984,320(-) TTTAT(C/T)AACCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL3A1 Gene

Variant ID Type Subtype PubMed ID
nsv834490 CNV Gain 17160897
nsv459992 CNV Loss 19166990
nsv875609 CNV Loss 21882294
nsv875610 CNV Loss 21882294
nsv875612 CNV Loss 21882294
esv2721255 CNV Deletion 23290073
esv2203663 CNV Deletion 18987734
esv2721256 CNV Deletion 23290073
esv990670 CNV Deletion 20482838
esv993048 CNV Deletion 20482838
esv2721257 CNV Deletion 23290073
esv1030122 CNV Deletion 17803354
esv268920 CNV Insertion 20981092
esv272418 CNV Insertion 20981092

Relevant External Links for COL3A1 Gene

HapMap Linkage Disequilibrium report
COL3A1
Human Gene Mutation Database (HGMD)
COL3A1
Locus Specific Mutation Databases (LSDB)
COL3A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL3A1 Gene

Disorders for COL3A1 Gene

(2) OMIM Diseases for COL3A1 Gene (120180)

UniProtKB/Swiss-Prot

CO3A1_HUMAN
  • Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. {ECO:0000269 PubMed:7833919}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]: The most severe form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269 PubMed:10706896, ECO:0000269 PubMed:10923041, ECO:0000269 PubMed:11168790, ECO:0000269 PubMed:12694234, ECO:0000269 PubMed:12786757, ECO:0000269 PubMed:1352273, ECO:0000269 PubMed:1357232, ECO:0000269 PubMed:1370809, ECO:0000269 PubMed:1496983, ECO:0000269 PubMed:1895316, ECO:0000269 PubMed:2492273, ECO:0000269 PubMed:2808425, ECO:0000269 PubMed:7749417, ECO:0000269 PubMed:7912131, ECO:0000269 PubMed:8019562, ECO:0000269 PubMed:8098182, ECO:0000269 PubMed:8411057, ECO:0000269 PubMed:8664902, ECO:0000269 PubMed:8680408, ECO:0000269 PubMed:8884076, ECO:0000269 PubMed:8990011, ECO:0000269 PubMed:9036918, ECO:0000269 PubMed:9147870, ECO:0000269 PubMed:9452103, ECO:0000269 Ref.46, ECO:0000269 Ref.51}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aortic aneurysm, familial abdominal (AAA) [MIM:100070]: A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. {ECO:0000269 PubMed:2243125, ECO:0000269 PubMed:2349939, ECO:0000269 PubMed:8514866}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for COL3A1 Gene

(19) Novoseek inferred disease relationships for COL3A1 Gene

Disease -log(P) Hits PubMed IDs
eds iv 96.8 10
ehlers-danlos syndrome 95.9 53
ehlers-danlos syndrome, type ii 78.5 1
ehlers-danlos syndrome, type i 78.5 1
vascular rupture 76.6 1

Relevant External Links for COL3A1

GeneTests
COL3A1
GeneReviews
COL3A1
Genetic Association Database (GAD)
COL3A1
Human Genome Epidemiology (HuGE) Navigator
COL3A1
genes like me logo Genes that share disorders with COL3A1: view

Publications for COL3A1 Gene

  1. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. (PMID: 2145268) Cole W.G. … Bateman J.F. (J. Biol. Chem. 1990) 3 4 23 25
  2. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. (PMID: 1352273) Richards A.J. … Pope F.M. (Hum. Genet. 1992) 3 4 23
  3. A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. (PMID: 1370809) Richards A.J. … Pope F.M. (Hum. Genet. 1992) 3 4 23
  4. G to A polymorphism in exon 31 of the COL3A1 gene. (PMID: 2235526) Zafarullah K. … Prockop D.J. (Nucleic Acids Res. 1990) 3 4 23
  5. Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. (PMID: 2349939) Kontusaari S. … Prockop D.J. (Am. J. Hum. Genet. 1990) 3 4 23

Products for COL3A1 Gene

Sources for COL3A1 Gene

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