COL3A1

Protein identityUniProt · HPA

UniProt accession

P02461

Gene

COL3A1

Ensembl

ENSG00000168542

Chromosome

2

Canonical length

1466 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Endoplasmic reticulum

Secretome location

Secreted to extracellular matrix

OverviewNCBI 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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]

Canonical amino-acid sequenceUniProt

1466 residues, UniProt reviewed canonical sequence.

>P02461|COL3A1
     1  MMSFVQKGSW LLLALLHPTI ILAQQEAVEG GCSHLGQSYA DRDVWKPEPC QICVCDSGSV
    61  LCDDIICDDQ ELDCPNPEIP FGECCAVCPQ PPTAPTRPPN GQGPQGPKGD PGPPGIPGRN
   121  GDPGIPGQPG SPGSPGPPGI CESCPTGPQN YSPQYDSYDV KSGVAVGGLA GYPGPAGPPG
   181  PPGPPGTSGH PGSPGSPGYQ GPPGEPGQAG PSGPPGPPGA IGPSGPAGKD GESGRPGRPG
   241  ERGLPGPPGI KGPAGIPGFP GMKGHRGFDG RNGEKGETGA PGLKGENGLP GENGAPGPMG
   301  PRGAPGERGR PGLPGAAGAR GNDGARGSDG QPGPPGPPGT AGFPGSPGAK GEVGPAGSPG
   361  SNGAPGQRGE PGPQGHAGAQ GPPGPPGING SPGGKGEMGP AGIPGAPGLM GARGPPGPAG
   421  ANGAPGLRGG AGEPGKNGAK GEPGPRGERG EAGIPGVPGA KGEDGKDGSP GEPGANGLPG
   481  AAGERGAPGF RGPAGPNGIP GEKGPAGERG APGPAGPRGA AGEPGRDGVP GGPGMRGMPG
   541  SPGGPGSDGK PGPPGSQGES GRPGPPGPSG PRGQPGVMGF PGPKGNDGAP GKNGERGGPG
   601  GPGPQGPPGK NGETGPQGPP GPTGPGGDKG DTGPPGPQGL QGLPGTGGPP GENGKPGEPG
   661  PKGDAGAPGA PGGKGDAGAP GERGPPGLAG APGLRGGAGP PGPEGGKGAA GPPGPPGAAG
   721  TPGLQGMPGE RGGLGSPGPK GDKGEPGGPG ADGVPGKDGP RGPTGPIGPP GPAGQPGDKG
   781  EGGAPGLPGI AGPRGSPGER GETGPPGPAG FPGAPGQNGE PGGKGERGAP GEKGEGGPPG
   841  VAGPPGGSGP AGPPGPQGVK GERGSPGGPG AAGFPGARGL PGPPGSNGNP GPPGPSGSPG
   901  KDGPPGPAGN TGAPGSPGVS GPKGDAGQPG EKGSPGAQGP PGAPGPLGIA GITGARGLAG
   961  PPGMPGPRGS PGPQGVKGES GKPGANGLSG ERGPPGPQGL PGLAGTAGEP GRDGNPGSDG
  1021  LPGRDGSPGG KGDRGENGSP GAPGAPGHPG PPGPVGPAGK SGDRGESGPA GPAGAPGPAG
  1081  SRGAPGPQGP RGDKGETGER GAAGIKGHRG FPGNPGAPGS PGPAGQQGAI GSPGPAGPRG
  1141  PVGPSGPPGK DGTSGHPGPI GPPGPRGNRG ERGSEGSPGH PGQPGPPGPP GAPGPCCGGV
  1201  GAAAIAGIGG EKAGGFAPYY GDEPMDFKIN TDEIMTSLKS VNGQIESLIS PDGSRKNPAR
  1261  NCRDLKFCHP ELKSGEYWVD PNQGCKLDAI KVFCNMETGE TCISANPLNV PRKHWWTDSS
  1321  AEKKHVWFGE SMDGGFQFSY GNPELPEDVL DVHLAFLRLL SSRASQNITY HCKNSIAYMD
  1381  QASGNVKKAL KLMGSNEGEF KAEGNSKFTY TVLEDGCTKH TGEWSKTVFE YRTRKAVRLP
  1441  IVDIAPYDIG GPDQEFGVDV GPVCFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL3A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

2,222 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL3A1.

Disease | AllUniProt

Conditions COL3A1 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, vascular type (EDSVASC) MIM:130050
• Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) MIM:618343

Disease | GeneticClinVar

946 pathogenic / likely-pathogenic of 3,942 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, type 4
• Familial thoracic aortic aneurysm and aortic dissection
• Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
• Familial aortopathy
• COL3A1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.1

gnomAD pLI

1

gnomAD missense Z

4.09

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aorta smooth muscle tissue morphogenesis
• basement membrane organization
• cell-matrix adhesion
• cellular response to amino acid stimulus
• cerebral cortex development
• chondrocyte differentiation
• collagen fibril organization
• digestive tract development
• elastic fiber assembly
• endochondral bone morphogenesis
• fibroblast proliferation
• heart development
• in utero embryonic development
• integrin-mediated signaling pathway
• layer formation in cerebral cortex
• limb joint morphogenesis
• lung development
• multicellular organism growth
• negative regulation of immune response
• negative regulation of neuron migration
• neuron migration
• peptide cross-linking
• platelet activation
• positive regulation of Rho protein signal transduction
• response to angiotensin
• response to cytokine
• response to radiation
• skin development
• supramolecular fiber organization
• tissue homeostasis
• transforming growth factor beta receptor signaling pathway
• transforming growth factor beta1 production
• wound healing

Molecular functions

• extracellular matrix structural constituent
• extracellular matrix structural constituent conferring tensile strength
• integrin binding
• metal ion binding
• platelet-derived growth factor binding
• protease binding
• SMAD binding

Cellular components

• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region
• extracellular space
• collagen type III trimer

Protein domainsUniProt · Pfam · InterPro

• Fibrillar collagen, C-terminal
• VWFC domain
• Collagen triple helix repeat
• Collagen superfamily
• von Willebrand factor type C domain
• Collagen triple helix repeat (20 copies)
• Fibrillar collagen C-terminal domain

KeywordsUniProt

• Aortic aneurysm
• Calcium
• Collagen
• Disulfide bond
• Ehlers-Danlos syndrome
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Metal-binding
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of COL3A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ADGRG1