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Aliases for COL3A1 Gene

Aliases for COL3A1 Gene

  • Collagen Type III Alpha 1 2 3
  • Collagen, Type III, Alpha 1 2 3 5
  • Ehlers-Danlos Syndrome Type IV, Autosomal Dominant 2 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 iv and ehlers-danlos syndrome, type iii. Among its related pathways are Degradation of the extracellular matrix 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

Promoters for COL3A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL3A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL3A1 Gene

Chromosome:
2
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

Genes around COL3A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 263 and Ser 1145
  • Modification sites at PhosphoSitePlus

Other Protein References for COL3A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COL3A1 Gene

Domains & Families for COL3A1 Gene

Gene Families for COL3A1 Gene

Suggested Antigen Peptide Sequences for COL3A1 Gene

Graphical View of Domain Structure for InterPro Entry

P02461

UniProtKB/Swiss-Prot:

CO3A1_HUMAN :
  • 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.
  • Belongs to the fibrillar collagen family.
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.
genes like me logo Genes that share phenotypes with COL3A1: view

Human Phenotype Ontology for COL3A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL3A1 Gene

MGI Knock Outs for COL3A1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytoskeleton 1
lysosome 1
nucleus 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005586 collagen type III trimer NAS 1672129
genes like me logo Genes that share ontologies with COL3A1: view

Pathways & Interactions 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:0007160 cell-matrix adhesion IDA 16912226
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 16360482
GO:0007411 axon guidance TAS --
GO:0007507 heart development IMP 7546986
GO:0009314 response to radiation IDA 14736764
genes like me logo Genes that share ontologies with COL3A1: view

No data available for SIGNOR curated interactions for COL3A1 Gene

Drugs & Compounds for COL3A1 Gene

(5) Drugs for COL3A1 Gene - From: DGIdb, DrugBank, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase Approved, Investigational Pharma Target 0
COLLAGENASE CLOSTRIDIUM HISTOLYTICUM Pharma 0

(5) Additional Compounds for COL3A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for COL3A1 Gene

This gene is overexpressed in Lung (12.7), Gallbladder (11.0), and Urinary Bladder (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COL3A1: view

Protein tissue co-expression partners for COL3A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
COL3A1 35
  • 99.86 (n)
  • 100 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia COL3A1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col3a1 36
  • 91 (a)
OneToOne
Col3a1 16
Col3a1 35
  • 87.63 (n)
  • 90.64 (a)
oppossum
(Monodelphis domestica)
Mammalia COL3A1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL3A1 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL3A1 36
  • 91 (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
VAR_001767 Aortic aneurysm, familial abdominal (AAA)
VAR_001768 Ehlers-Danlos syndrome 4 (EDS4)
VAR_001769 Ehlers-Danlos syndrome 4 (EDS4)
VAR_001770 Ehlers-Danlos syndrome 4 (EDS4)
VAR_001771 -

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

Variation tolerance for COL3A1 Gene

Residual Variation Intolerance Score: 7.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL3A1 Gene

HapMap Linkage Disequilibrium report
COL3A1
Human Gene Mutation Database (HGMD)
COL3A1

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

Disorders for COL3A1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for COL3A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, type iv
  • autosomal dominant type iv ehlers-danlos syndrome
ehlers-danlos syndrome, type iii
  • type iii ehlers-danlos syndrome
acrogeria, gottron type
  • acrogeria
familial abdominal aortic aneurysm
  • aaa
thoracic aortic aneurysms and aortic dissections
  • taad
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO3A1_HUMAN
  • 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.
  • 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.

Relevant External Links for COL3A1

Genetic Association Database (GAD)
COL3A1
Human Genome Epidemiology (HuGE) Navigator
COL3A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL3A1
genes like me logo Genes that share disorders with COL3A1: view

No data available for Genatlas for COL3A1 Gene

Publications for COL3A1 Gene

  1. Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen. (PMID: 2780304) Janeczko R.A. … Ramirez F. (Nucleic Acids Res. 1989) 2 3 4 67
  2. 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 23 25
  3. The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. (PMID: 19152942) Jeon M.J. … Bai S.W. (J. Urol. 2009) 3 23
  4. Association of gene polymorphisms with chronic kidney disease in high- or low-risk subjects defined by conventional risk factors. (PMID: 19424605) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 23
  5. Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. (PMID: 19398442) Asling B. … LagerstrAPm-Fermer M. (Gut 2009) 3 23

Products for COL3A1 Gene

Sources for COL3A1 Gene

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