COL3A1 Gene (Protein Coding)

Collagen Type III Alpha 1 Chain

GC02P188974
GIFtS:
48
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, result... See more...

Aliases for COL3A1 Gene

Aliases for COL3A1 Gene

  • Collagen Type III Alpha 1 Chain 2 3 5
  • Ehlers-Danlos Syndrome Type IV, Autosomal Dominant 2 3
  • Collagen Alpha-1(III) Chain 3 4
  • Collagen, Type III, Alpha 1 2 3
  • Alpha-1 Type III Collagen 3
  • Alpha1 (III) Collagen 3
  • Collagen, Fetal 3
  • EDSVASC 3
  • PMGEDSV 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 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL1A1.

UniProtKB/Swiss-Prot Summary 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 ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Gene Wiki entry for COL3A1 Gene

Additional gene information for COL3A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL3A1 Gene

Genomics for COL3A1 Gene

GeneHancer (GH) Regulatory Elements for COL3A1 Gene

Promoters and enhancers for COL3A1 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
GH02J188969 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +3.9 3934 18.3 CTCF TCF12 USF1 JUND EP300 REST RELA RAD21 TRIM22 ZSCAN9 COL3A1 MIR1245A MIR1245B ENSG00000273240 JA662178 LOC105373791
GH02J189782 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 21 +809.7 809681 4.4 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 NRF1 POLR2G SP1 NCOR1 PHF8 ORMDL1 PMS1 RF00017-3385 lnc-OSGEPL1-4 WDR75 ANKAR COL3A1 NEMP2 NAB1 ASNSD1
GH02J189573 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +605.4 605404 11.5 HNRNPK EP300 NRF1 POLR2G NCOR1 PHF8 ZIC2 TCF7 ZBTB26 ZBTB25 SLC40A1 COL3A1 ASNSD1 lnc-SLC40A1-3 RF00100-069
GH02J189175 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 +204.0 204004 5.4 TCF12 CTCF REST ATF2 POLR2A SIN3A MAFK FOXP2 RAD21 JUND COL5A2 WDR75 ENSG00000233996 COL3A1 DIRC1 HSALNG0021037 MIR3129
GH02J188785 Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 4.6 -187.2 -187173 4.2 TCF12 JUND FOS RAD51 MYNN NR3C1 FOSL2 USF1 ESR1 STAT1 DIRC1 COL3A1 ENSG00000223523 LOC105373790
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL3A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL3A1

Top Transcription factor binding sites by QIAGEN in the COL3A1 gene promoter:
  • Bach2
  • FOXD1
  • Hlf
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for COL3A1 Gene

Genomic Locations for COL3A1 Gene
chr2:188,974,320-189,012,746
(GRCh38/hg38)
Size:
38,427 bases
Orientation:
Plus strand
chr2:189,839,046-189,877,472
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for COL3A1 Gene

Proteins for COL3A1 Gene

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  • 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. Interacts with ADGRG1 (PubMed:28258187).

    Three dimensional structures from OCA and Proteopedia for COL3A1 Gene

    Alternative splice isoforms for COL3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL3A1 Gene

Protein Expression for COL3A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for COL3A1 Gene

  • Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
  • Glycosylation at Lys263, Asn1367, and Ser1145
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CO3A1_HUMAN (1127)

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL3A1 Gene

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • von Willebrand factor, type C
  • Fibrillar collagen, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COL3A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(III) chain (CO3A1_HUMAN)
  • Collagen, type III, alpha 1 (D2JYH5_HUMAN)

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

Function for COL3A1 Gene

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  2. CRISPR
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Molecular function for COL3A1 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 ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.
GENATLAS Biochemistry:
collagen type III,alpha 1,fibril forming,putative down-regulated c-Myc target gene,

Phenotypes From GWAS Catalog for COL3A1 Gene

Gene Ontology (GO) - Molecular Function for COL3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 19932771
GO:0005178 integrin binding NAS 14970208
GO:0005201 extracellular matrix structural constituent IMP 7487954
GO:0005515 protein binding IPI,IEA 2839553
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
genes like me logo Genes that share ontologies with COL3A1: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 COL3A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL3A1 Gene

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

Pathways & Interactions for COL3A1 Gene

PathCards logo

SuperPathways for COL3A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Collagen biosynthesis and modifying enzymes
.75
Collagen formation
.75
Collagen chain trimerization
.67
Assembly of collagen fibrils and other multimeric structures
.65
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
Protein digestion and absorption
.34
2 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Phospholipase-C Pathway
Phospholipase-C Pathway
.56
PTEN Pathway
.56
5 Binding and Uptake of Ligands by Scavenger Receptors
Binding and Uptake of Ligands by Scavenger Receptors
.43
Scavenging by Class A Receptors
.43
genes like me logo Genes that share pathways with COL3A1: view

Pathways by source for COL3A1 Gene

1 GeneGo (Thomson Reuters) pathway for COL3A1 Gene
  • Cell adhesion_ECM remodeling
1 R&D Systems pathway for COL3A1 Gene
15 Qiagen pathways for COL3A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for COL3A1 Gene

Activates:

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 IEA --
GO:0007160 cell-matrix adhesion IDA 16912226
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 16360482
GO:0007229 integrin-mediated signaling pathway IMP 14970208
genes like me logo Genes that share ontologies with COL3A1: view

Drugs & Compounds for COL3A1 Gene

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

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

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mRNA/cDNA for COL3A1 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1

Clone Products

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

Expression for COL3A1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL3A1 Gene

mRNA expression in normal human tissues for COL3A1 Gene
mRNA expression by GTEx for COL3A1 GenemRNA expression by BioGPS 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 and MOPED for COL3A1 Gene



Protein tissue co-expression partners for COL3A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL3A1

SOURCE GeneReport for Unigene cluster for COL3A1 Gene:

Hs.443625

Evidence on tissue expression from TISSUES for COL3A1 Gene

  • Skin(4.8)
  • Pancreas(4.6)
  • Bone(4.5)
  • Liver(4.4)
  • Lung(4.4)
  • Eye(4.3)
  • Intestine(4.3)
  • Heart(4.2)
  • Nervous system(4)
  • Stomach(3.8)
  • Muscle(3.2)
  • Gall bladder(3)
  • Kidney(2.9)
  • Thyroid gland(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL3A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns 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 31 30
  • 99.86 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia COL3A1 31
  • 92 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia COL3A1 31
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Col3a1 17 31 30
  • 87.63 (n)
rat
(Rattus norvegicus)
 Mammalia Col3a1 30
  • 87.32 (n)
oppossum
(Monodelphis domestica)
 Mammalia COL3A1 31
  • 81 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia COL3A1 31
  • 76 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves COL3A1 30
  • 71.24 (n)
-- 31
  • 19 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia COL3A1 31
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia col3a1 30
  • 71.72 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Cg25C 31
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7880 31
  • 49 (a)
 OneToMany
Species where no ortholog for COL3A1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COL3A1: view image

Paralogs for COL3A1 Gene

Paralogs for COL3A1 Gene

(17) SIMAP similar genes for COL3A1 Gene using alignment to 10 proteins:

  • CO3A1_HUMAN
  • D2JYH5_HUMAN
  • E7ENY8_HUMAN
  • H7C435_HUMAN
  • R4N3C5_HUMAN
  • V9GZG2_HUMAN
  • V9GZI1_HUMAN
  • V9GZL2_HUMAN
  • V9GZM1_HUMAN
  • V9GZS3_HUMAN
genes like me logo Genes that share paralogs with COL3A1: view

Variants for COL3A1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL3A1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
101134 Pathogenic: Ehlers-Danlos syndrome, type 4 188,994,960(+) ATGACATAAAAATATT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
101300 Pathogenic: Ehlers-Danlos syndrome, type 4 188,996,507(+) TCATTAATTTCTTCAA SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
101348 Pathogenic: Ehlers-Danlos syndrome, type 4 189,006,076(+) TAAGATTTCTTACCCC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
101394 Pathogenic: Ehlers-Danlos syndrome, type 4 188,988,189(+) ATATATATTCTGCTAT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
101415 Pathogenic: Ehlers-Danlos syndrome, type 4 189,005,609(+) AGGATAGACTTAAAAG SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for COL3A1 Gene

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

Variant ID Type Subtype PubMed ID
dgv7233n54 CNV loss 21841781
dgv7234n54 CNV loss 21841781
esv1030122 CNV deletion 17803354
esv2203663 CNV deletion 18987734
esv2721255 CNV deletion 23290073
esv2721256 CNV deletion 23290073
esv2721257 CNV deletion 23290073
esv3360634 CNV insertion 20981092
esv3371950 CNV insertion 20981092
esv3893522 CNV loss 25118596
esv990670 CNV deletion 20482838
esv993048 CNV deletion 20482838
nsv1114155 CNV deletion 24896259
nsv459992 CNV loss 19166990
nsv834490 CNV gain 17160897

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)

Additional Variant Information for COL3A1 Gene

Human Gene Mutation Database (HGMD)
COL3A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL3A1

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

Disorders for COL3A1 Gene

MalaCards: The human disease database

(45) MalaCards diseases for COL3A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO3A1_HUMAN
  • Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]: A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, 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:2243125, ECO:0000269 PubMed:2349939, ECO:0000269 PubMed:2492273, ECO:0000269 PubMed:2808425, ECO:0000269 PubMed:7749417, ECO:0000269 PubMed:7833919, ECO:0000269 PubMed:7912131, ECO:0000269 PubMed:8019562, ECO:0000269 PubMed:8098182, ECO:0000269 PubMed:8411057, ECO:0000269 PubMed:8514866, 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.50, ECO:0000269 Ref.55}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343]: An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. {ECO:0000269 PubMed:19455184, ECO:0000269 PubMed:25205403, ECO:0000269 PubMed:28258187, ECO:0000269 PubMed:28742248}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL3A1

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 COL3A1: view

No data available for Genatlas for COL3A1 Gene

Publications for COL3A1 Gene

  1. 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 … Lagerström-Fermer M (Gut 2009) 3 23 41 54
  2. The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. (PMID: 19152942) Jeon MJ … Bai SW (The Journal of urology 2009) 3 23 41 54
  3. Genetic association between functional haplotype of collagen type III alpha 1 and chronic hepatitis B and cirrhosis in Koreans. (PMID: 19000145) Lee SK … Kwack K (Tissue antigens 2008) 3 23 41 54
  4. [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm]. (PMID: 18642782) Hua T … Zhao JZ (Zhonghua yi xue za zhi 2008) 3 23 41 54
  5. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. (PMID: 18722615) Chen HY … Tsai CH (International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2008) 3 23 41 54

ExternalLinks

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