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COL3A1
HPA
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  • COL3A1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

COL3A1
Synonyms EDS4A
Gene descriptioni

Full gene name according to HGNC.

Collagen type III alpha 1 chain
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
FDA approved drug targets
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Secreted, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband q32.2
Chromosome location (bp) 188974373 - 189012746
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

3
Ensembl ENSG00000168542 (version 109)
Entrez gene 1281
HGNC HGNC:2201
UniProt P02461 (UniProt - Evidence at protein level)
neXtProt NX_P02461
GeneCards COL3A1
Antibodypedia COL3A1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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.... show less
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Calcium, Metal-binding
Gene summary (Entrez)i

Useful information about the gene from 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 this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
COL3A1-201
ENSP00000304408
ENST00000304636
P02461
[Direct mapping] Collagen alpha-1(III) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
   DeepSig predicted secreted proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of skin
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001568 [blood vessel development]
GO:0001701 [in utero embryonic development]
GO:0001764 [neuron migration]
GO:0001894 [tissue homeostasis]
GO:0002020 [protease binding]
GO:0002062 [chondrocyte differentiation]
GO:0005178 [integrin binding]
GO:0005201 [extracellular matrix structural constituent]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005581 [collagen trimer]
GO:0005586 [collagen type III trimer]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007160 [cell-matrix adhesion]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007229 [integrin-mediated signaling pathway]
GO:0007507 [heart development]
GO:0009314 [response to radiation]
GO:0010467 [gene expression]
GO:0018149 [peptide cross-linking]
GO:0021819 [layer formation in cerebral cortex]
GO:0021987 [cerebral cortex development]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030168 [platelet activation]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030324 [lung development]
GO:0031012 [extracellular matrix]
GO:0032905 [transforming growth factor beta1 production]
GO:0034097 [response to cytokine]
GO:0035025 [positive regulation of Rho protein signal transduction]
GO:0035264 [multicellular organism growth]
GO:0035904 [aorta development]
GO:0036022 [limb joint morphogenesis]
GO:0042060 [wound healing]
GO:0043588 [skin development]
GO:0046332 [SMAD binding]
GO:0046872 [metal ion binding]
GO:0048144 [fibroblast proliferation]
GO:0048251 [elastic fiber assembly]
GO:0048407 [platelet-derived growth factor binding]
GO:0048565 [digestive tract development]
GO:0048856 [anatomical structure development]
GO:0050777 [negative regulation of immune response]
GO:0051216 [cartilage development]
GO:0060350 [endochondral bone morphogenesis]
GO:0060414 [aorta smooth muscle tissue morphogenesis]
GO:0062023 [collagen-containing extracellular matrix]
GO:0071230 [cellular response to amino acid stimulus]
GO:0071711 [basement membrane organization]
GO:0097435 [supramolecular fiber organization]
GO:0110165 [cellular anatomical entity]
GO:1990776 [response to angiotensin]
GO:2001223 [negative regulation of neuron migration]
Show all
1466 aa
138.6 kDa
Yes 0
COL3A1-202
ENSP00000315243
ENST00000317840
P02461
[Direct mapping] Collagen alpha-1(III) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
   DeepSig predicted secreted proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of skin
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002020 [protease binding]
GO:0005178 [integrin binding]
GO:0005201 [extracellular matrix structural constituent]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005581 [collagen trimer]
GO:0005586 [collagen type III trimer]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007160 [cell-matrix adhesion]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007229 [integrin-mediated signaling pathway]
GO:0007507 [heart development]
GO:0009314 [response to radiation]
GO:0018149 [peptide cross-linking]
GO:0021987 [cerebral cortex development]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030168 [platelet activation]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0031012 [extracellular matrix]
GO:0034097 [response to cytokine]
GO:0035025 [positive regulation of Rho protein signal transduction]
GO:0042060 [wound healing]
GO:0043588 [skin development]
GO:0046872 [metal ion binding]
GO:0048407 [platelet-derived growth factor binding]
GO:0048856 [anatomical structure development]
GO:0050777 [negative regulation of immune response]
GO:0062023 [collagen-containing extracellular matrix]
GO:0097435 [supramolecular fiber organization]
GO:0110165 [cellular anatomical entity]
GO:2001223 [negative regulation of neuron migration]
Show all
1163 aa
111.9 kDa
Yes 0
COL3A1-203
ENSP00000415346
ENST00000450867
H7C435
[Direct mapping] Collagen alpha-1(III) chain
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of skin
Protein evidence (Ezkurdia et al 2014)
Show all
90 aa
7.9 kDa
No 0

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