• Gene id: 1281

Gene Summary

• Gene Symbol: COL3A1   Gene   UCSC   Ensembl
• Aliases: EDS4A, EDSVASC, PMGEDSV
• Gene name: collagen type III alpha 1 chain
• Alternate names: collagen alpha-1(III) chain, Ehlers-Danlos syndrome type IV, autosomal dominant, alpha-1 type III collagen, alpha1 (III) collagen, collagen, fetal, collagen, type III, alpha 1,
• Gene location: 2q32.2 (47831540: 47823271)     Exons: 6     NC_000017.11
• Gene summary(Entrez): 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 t
• OMIM: 120180

Protein Summary

• Protein general information: P02461  
  • Name: Collagen alpha 1(III) chain
  • Length: 1466  
  • Mass: 138564
• Sequence:

  MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCP
  NPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQN
  YSPQYDSYDVKSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSG
  PAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMG
  PRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQG
  HAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERG
  EAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPG
  RDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPG
  GPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKG
  DAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPG
  ADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKG
  ERGAPGEKGEGGPPGVAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
  KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQG
  VKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGHPG
  PPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAG
  QQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV
  GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSG
  EYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVL
  DVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWS
  KTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVGPVCFL

• Structural information:
  • Protein Domains: (30..8-)
    (/note="VWFC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00220-)
    (1232..146-)
    NC1 (/note="Fibrillar-collagen)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00793"-)
  • Interpro: IPR008160  IPR000885  IPR001007  
  • Prosite: PS51461 PS01208 PS50184
  • PDB: 2V53 3DMW 4AE2 4AEJ 4AK3 4GYX 6FZV 6FZW
  • PDBsum: 2V53 3DMW 4AE2 4AEJ 4AK3 4GYX 6FZV 6FZW
  • DIP: 57177
  • STRING: ENSP00000304408
• Other Databases: GeneCards:  COL3A1  Malacards:  COL3A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005586	collagen type III trimer	IBA	cellular component
GO:2001223	negative regulation of neuron migration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035025	positive regulation of Rho protein signal transduction	ISS	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0048407	platelet-derived growth factor binding	IDA	molecular function
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:2001223	negative regulation of neuron migration	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0005586	collagen type III trimer	IEA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0035025	positive regulation of Rho protein signal transduction	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0048565	digestive tract development	IEA	biological process
GO:0060414	aorta smooth muscle tissue morphogenesis	IEA	biological process
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	TAS	colocalizes with
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0002020	protease binding	IPI	molecular function
GO:0005586	collagen type III trimer	IDA	cellular component
GO:0042060	wound healing	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0009314	response to radiation	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0034097	response to cytokine	IDA	biological process
GO:0007160	cell-matrix adhesion	IDA	biological process
GO:0018149	peptide cross-linking	IDA	biological process
GO:0097435	supramolecular fiber organization	IMP	biological process
GO:0062023	collagen-containing extracellular matrix	IMP	cellular component
GO:0030168	platelet activation	NAS	biological process
GO:0007229	integrin-mediated signaling pathway	IMP	biological process
GO:0005201	extracellular matrix structural constituent	IMP	molecular function
GO:0030199	collagen fibril organization	IMP	biological process
GO:0030199	collagen fibril organization	IMP	biological process
GO:0030199	collagen fibril organization	NAS	biological process
GO:0007507	heart development	IMP	biological process
GO:0005586	collagen type III trimer	NAS	cellular component
GO:0005178	integrin binding	NAS	molecular function
GO:0042060	wound healing	NAS	biological process
GO:0062023	collagen-containing extracellular matrix	IMP	cellular component
GO:0005615	extracellular space	NAS	cellular component
GO:0005201	extracellular matrix structural constituent	IMP	molecular function
GO:0050777	negative regulation of immune response	IMP	biological process
GO:0043588	skin development	IMP	biological process
GO:0005586	collagen type III trimer	IMP	cellular component
GO:0005586	collagen type III trimer	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005178	integrin binding	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04611	Platelet activation
hsa04926	Relaxin signaling pathway
hsa04974	Protein digestion and absorption
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Ehlers-Danlos syndrome vascular type	KEGG:H02242
Ehlers-Danlos syndrome vascular type	KEGG:H02242
Ehlers-Danlos syndrome	PMID:10706896
Ehlers-Danlos syndrome	PMID:7833919
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)