COL3A1 collagen, type III, alpha 1 [Homo sapiens] - Gene

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Summary

Official Symbol: COL3A1provided by HGNC
Official Full Name: collagen, type III, alpha 1provided by HGNC
Primary source: HGNC:2201
See related: Ensembl:ENSG00000168542; HPRD:00365; MIM:120180; Vega:OTTHUMG00000132648
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EDS4A; FLJ34534
Summary: 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]

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Genomic context

Location :: 2q31

Sequence :: Chromosome: 2; NC_000002.11 (189839099..189877472)

See COL3A1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Disease-associated mutations prevent GPR56-collagen III interaction.
Title: Disease-associated mutations prevent GPR56-collagen III interaction.
Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations.
Title: Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Letter: Describe COL3A1 mutations and clinical features of vascular type Ehlers-Danlos syndrome in Italian patients.
Title: Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Type IV, or vascular, Ehlers-Danlos Syndrome is a life-threatening, autosomal dominant condition. It is caused by mutation of the COL3A1 gene.
Title: Hemorrhagic bullae of the oral mucosa as an early manifestation of vascular-type ehlers-danlos syndrome.
Data suggest that combination of HA, PIIINP, TGF-ss1 may provide a potential useful tool to assess liver fibrosis in adult HCV patients.
Title: The role of serum biomarkers in predicting fibrosis progression in pediatric and adult hepatitis C virus chronic infection.
Data show that TGF-beta1 stimulated cell proliferation, enhanced the gene expression of type I and III collagen, and alpha-SMA.
Title: Isolation of mesenchymal stem cells from human ligamentum flavum: implicating etiology of ligamentum flavum hypertrophy.
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy
Title: COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
Patients presenting a significant increase in maximum ascending aortic aneurysm size have a significantly higher type III procollagen level than those demonstrating no or limited growth in maximum aneurysm diameter.
Title: Aminoterminal propeptide of type III procollagen (PIIINP) is associated with ascending aortic aneurysm growth rate.
RT-PCR showed that COL3A1 from osteoblasts from Pfeiffer syndrome grown on PLPG acid plates were downregulated after 30 days.
Title: Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome.
cases of segmental mediolytic arteriopathy and traumatic subarachnoid hemorrhage undergo genetic testing for COL3A1 mutations
Title: Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link.

Submit: New GeneRIF Correction See all (62)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Ehlers-Danlos syndrome, type III

MIM: 130020

Ehlers-Danlos syndrome, type IV

MIM: 130050

Ehlers-Danlos syndrome type IV (EDS type IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have EDS type IV. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur. Pregnancy for women with EDS type IV has as much as a 12% risk for death from peripartum arterial rupture or uterine rupture. One-fourth of individuals with EDS type IV who have undergone laboratory testing to confirm their diagnosis have experienced a significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 48 years.

Diagnosis Testing

The diagnosis of EDS type IV is based on clinical findings and confirmed by identification of a causative mutation in COL3A1. Molecular genetic testing of COL3A1, the only gene in which mutations are known to cause EDS type IV, is available on a clinical basis. Sequence analysis detects 98% of mutations, while rare exonic deletions are detected by COL3A1 deletion/duplication analysis or collagen screening and cDNA amplification. Analysis of collagens produced by cultured fibroblasts ("biochemical studies") from affected individuals can demonstrate abnormalities of type III procollagen production, intracellular retention, reduced secretion, and/or altered mobility in cells from some individuals in which no mutation was detected by genomic sequencing.

Genetic Counseling

EDS type IV is inherited in an autosomal dominant manner. About 50% of affected individuals have inherited the COL3A1 mutation from an affected parent, and about 50% of affected individuals have a de novo disease-causing mutation. Each child of an affected individual has a 50% chance of inheriting the mutation and developing the disorder. Both parental somatic/germline mosaicism and parental isolated germline mosaicism have been reported. Prenatal testing for pregnancies at increased risk is possible in families in which the disease-causing mutation in COL3A1 has been identified. In rare families in which only the biochemical abnormality is known, analysis of cultured CVS cells can substitute.

References

PMID: 20301667

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the steady-state RNA levels for fibronectin and types I and III collagen in glioblastoma cells and salivary gland cell lines	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
NP_000081.1	NP_005177.2	CAPN1	BIND	PubMed	CAPN1 interacts with COL3A1.
P02461	P07384	CAPN1	HPRD	PubMed
P02461	Q08345	DDR1	HPRD	PubMed
P02461	Q16832	DDR2	HPRD	PubMed
P02461	P21781	FGF7	HPRD	PubMed
P02461	Q92743	HTRA1	HPRD	PubMed
P02461	P20916	MAG	HPRD	PubMed
P02461	Q99972	MYOC	HPRD	PubMed
P02461	Q15113	PCOLCE	HPRD	PubMed
P02461	P09486	SPARC	HPRD	PubMed
P02461	P07996	THBS1	HPRD	PubMed
BioGRID:107678	BioGRID:110273	MAG	BioGRID	PubMed	Reconstituted Complex
BioGRID:107678	BioGRID:112560	SPARC	BioGRID	PubMed	Reconstituted Complex
BioGRID:107678	BioGRID:112915	THBS1	BioGRID	PubMed	Reconstituted Complex

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General gene information

Markers

COL3A1 (e-PCR)
- UniSTS:480020

GDB:180981 (e-PCR)
- UniSTS:155156

RH99230 (e-PCR)
- UniSTS:86818

GDB:181238 (e-PCR)
- UniSTS:155206

D2S2587 (e-PCR)
- UniSTS:30538

RH134399 (e-PCR)
- UniSTS:217681

GDB:178182 (e-PCR)
- UniSTS:154983

GDB:178183 (e-PCR)
- UniSTS:154984

X57983 (e-PCR)
- UniSTS:125805

COL3A1-379 (e-PCR), detects polymorphism
- UniSTS:251510

COL3A1_428 (e-PCR)
- UniSTS:277115

GDB:178411 (e-PCR)
- UniSTS:155007

GDB:178412 (e-PCR)
- UniSTS:155008

COL3A1-95 (e-PCR), detects polymorphism
- UniSTS:519063

RH69964 (e-PCR)
- UniSTS:67759

MARC_23660-23661:1029504961:1 (e-PCR)
- UniSTS:268738

WI-16343 (e-PCR)
- UniSTS:68589

Genotypes

See COL3A1 SNP Geneview Report
See COL3A1 SNP Genotype Report
See COL3A1 SNP Variation Viewer Report

Homology

Homologs of the COL3A1 gene: The COL3A1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, and A.thaliana.
Map Viewer (Mouse, Rat)

Pathways from BioSystems

Amoebiasis, organism-specific biosystem (from KEGG)
Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
Amoebiasis, conserved biosystem (from KEGG)
Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
Axon guidance, organism-specific biosystem (from REACTOME)
Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
ECM-receptor interaction, organism-specific biosystem (from KEGG)
ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
ECM-receptor interaction, conserved biosystem (from KEGG)
ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
Endothelins, organism-specific biosystem (from Pathway Interaction Database)
Endothelins, organism-specific biosystem
Endothelins
Focal Adhesion, organism-specific biosystem (from WikiPathways)
Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Focal adhesion, organism-specific biosystem (from KEGG)
Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Focal adhesion, conserved biosystem (from KEGG)
Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
Inflammatory Response Pathway, organism-specific biosystem
Inflammatory Response Pathway
NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
NCAM1 interactions, organism-specific biosystem (from REACTOME)
NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
Protein digestion and absorption, organism-specific biosystem (from KEGG)
Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Protein digestion and absorption, conserved biosystem (from KEGG)
Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by PDGF, organism-specific biosystem (from REACTOME)
Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
SMAD binding	IEA Inferred from Electronic Annotation more info
extracellular matrix structural constituent	IMP Inferred from Mutant Phenotype more info	PubMed
integrin binding	IMP Inferred from Mutant Phenotype more info	PubMed
integrin binding	NAS Non-traceable Author Statement more info	PubMed
platelet-derived growth factor binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
axon guidance	TAS Traceable Author Statement more info
blood vessel development	IEA Inferred from Electronic Annotation more info
cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
collagen biosynthetic process	TAS Traceable Author Statement more info	PubMed
collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
collagen fibril organization	NAS Non-traceable Author Statement more info	PubMed
digestive tract development	IEA Inferred from Electronic Annotation more info
fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
heart development	IMP Inferred from Mutant Phenotype more info	PubMed
integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of immune response	IMP Inferred from Mutant Phenotype more info	PubMed
peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
platelet activation	NAS Non-traceable Author Statement more info	PubMed
response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
response to radiation	IDA Inferred from Direct Assay more info	PubMed
skeletal system development	IEA Inferred from Electronic Annotation more info
skin development	IMP Inferred from Mutant Phenotype more info	PubMed
transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
wound healing	IDA Inferred from Direct Assay more info	PubMed
wound healing	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
collagen	IEA Inferred from Electronic Annotation more info
collagen type III	IMP Inferred from Mutant Phenotype more info	PubMed
collagen type III	NAS Non-traceable Author Statement more info	PubMed
extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with extracellular matrix	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
extracellular space	NAS Non-traceable Author Statement more info	PubMed

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General protein information

Preferred Names: collagen alpha-1(III) chain

Names: collagen alpha-1(III) chain; collagen, fetal; alpha1 (III) collagen; Ehlers-Danlos syndrome type IV, autosomal dominant

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007404.1 RefSeqGene

Range

5001..43374

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_3

mRNA and Protein(s)

NM_000090.3 → NP_000081.1 collagen alpha-1(III) chain preproprotein

Status: REVIEWED

Source sequence(s)

AC066694, BC028178, BP374999, X14420

Consensus CDS

CCDS2297.1

UniProtKB/Swiss-Prot

P02461

Related

ENSP00000304408, OTTHUMP00000163485, ENST00000304636, OTTHUMT00000255899

Conserved Domains (3) summary

pfam01391
Location:262 – 293
Blast Score: 81

Collagen; Collagen triple helix repeat (20 copies)

cl02436
Location:1231 – 1466
Blast Score: 979

COLFI; Fibrillar collagen C-terminal domain

cl02515
Location:32 – 88
Blast Score: 206

VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

189839099..189877472

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

181698732..181737119

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC066694.7	AAY24164.1
genomic	AY016295.1	AAL13167.1
genomic	AY054301.1	AAL13167.1
genomic	CH471058.2	EAX10909.1
		EAX10910.1
		EAX10911.1
genomic	M10795.1	AAA52002.1
genomic	M10797.1	AAA51999.1
genomic	M10798.1	AAA52000.1
genomic	M10799.1	AAA52001.1
genomic	M26939.1	AAA52040.1
genomic	M59312.1	AAA52041.1
genomic	S62925.1	AAD13937.1
mRNA	AI755052.1	None
mRNA	AK091853.1	None
mRNA	AK308010.1	None
mRNA	BC028178.1	AAH28178.1
mRNA	BP374999.1	None
mRNA	M11134.1	AAA52004.1
mRNA	M13146.1	AAA52003.1
mRNA	M59227.1	AAB59383.1
mRNA	S79877.1	AAB35615.1
mRNA	X01655.1	CAA25821.1
mRNA	X01742.1	CAA25878.1
		CAA25879.1
mRNA	X06700.1	CAA29886.1
mRNA	X07240.1	CAA30229.1
mRNA	X14420.1	CAA32583.1
mRNA	X15332.1	CAA33387.1