COL3A1
entrez
1281
canonical
uniprot
P02461
canonical
ensembl
ENSG00000168542
resolver
ensembl
ENSG00000291748
resolver
ensp
ENSP00000304408
resolver
ensp
ENSP00000517283
resolver
enst
ENST00000708566
resolver
genesymbol
COL3A1
resolver
hgnc
HGNC:2201
resolver
uniprot
A0AAG2UVC5
resolver
uniprot
D2JYH5
resolver
uniprot
D3DPH4
resolver
uniprot
P78429
resolver
uniprot
Q15112
resolver
uniprot
Q16403
resolver
uniprot
Q53S91
resolver
uniprot
Q541P8
resolver
uniprot
Q6LDB3
resolver
uniprot
Q6LDJ2
resolver
uniprot
Q6LDJ3
resolver
uniprot
Q7KZ56
resolver
uniprot
Q8N6U4
resolver
uniprot
Q9UC88
resolver
uniprot
Q9UC89
resolver
uniprot
Q9UC90
resolver
uniprot
Q9UC91
resolver
uniprot
R4N3C5
resolver
uniprot
V9GZI1
resolver
uniprot_entry
A0AAG2UVC5_HUMAN
resolver
uniprot_entry
CO3A1_HUMAN
resolver
uniprot_sec
D2JYH5
resolver
uniprot_sec
D3DPH4
resolver
uniprot_sec
P78429
resolver
uniprot_sec
Q15112
resolver
uniprot_sec
Q16403
resolver
uniprot_sec
Q53S91
resolver
uniprot_sec
Q541P8
resolver
uniprot_sec
Q6LDB3
resolver
uniprot_sec
Q6LDJ2
resolver
uniprot_sec
Q6LDJ3
resolver
uniprot_sec
Q7KZ56
resolver
uniprot_sec
Q8N6U4
resolver
uniprot_sec
Q9UC88
resolver
uniprot_sec
Q9UC89
resolver
uniprot_sec
Q9UC90
resolver
uniprot_sec
Q9UC91
resolver
uniprot_sec
R4N3C5
resolver
uniprot_sec
V9GZI1
resolver
amino_acid_sequence
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVGPVCFL
uniprot
proteins
disease_involvement
DISEASE: 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:10051163, 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:21086191, 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
138564
uniprot
proteins
post_translational_modification
PTM: Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269|PubMed:557335, ECO:0000269|PubMed:7016180}.; PTM: O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
uniprot
proteins
protein_family
Fibrillar collagen family
uniprot
proteins
pubmed
10051163
uniprot
proteins
pubmed
10706896
uniprot
proteins
pubmed
10819545
uniprot
proteins
pubmed
10923041
uniprot
proteins
pubmed
11168790
uniprot
proteins
pubmed
11566270
uniprot
proteins
pubmed
12694234
uniprot
proteins
pubmed
12786757
uniprot
proteins
pubmed
1352273
uniprot
proteins
pubmed
1357232
uniprot
proteins
pubmed
1370809
uniprot
proteins
pubmed
1496983
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
1672129
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18272325
uniprot
proteins
pubmed
18805790
uniprot
proteins
pubmed
1895316
uniprot
proteins
pubmed
19455184
uniprot
proteins
pubmed
21086191
uniprot
proteins
pubmed
2145268
uniprot
proteins
pubmed
2235526
uniprot
proteins
pubmed
2243125
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
23001006
uniprot
proteins
pubmed
2349939
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2492273
uniprot
proteins
pubmed
25205403
uniprot
proteins
pubmed
2579949
uniprot
proteins
pubmed
2764886
uniprot
proteins
pubmed
2777083
uniprot
proteins
pubmed
2780304
uniprot
proteins
pubmed
2808425
uniprot
proteins
pubmed
28258187
uniprot
proteins
pubmed
28742248
uniprot
proteins
pubmed
3211760
uniprot
proteins
pubmed
3357782
uniprot
proteins
pubmed
3405773
uniprot
proteins
pubmed
3754462
uniprot
proteins
pubmed
3858826
uniprot
proteins
pubmed
557335
uniprot
proteins
pubmed
6096827
uniprot
proteins
pubmed
6246925
uniprot
proteins
pubmed
687591
uniprot
proteins
pubmed
7016180
uniprot
proteins
pubmed
7487954
uniprot
proteins
pubmed
7749417
uniprot
proteins
pubmed
7833919
uniprot
proteins
pubmed
7864881
uniprot
proteins
pubmed
7912131
uniprot
proteins
pubmed
8019562
uniprot
proteins
pubmed
8098182
uniprot
proteins
pubmed
8255472
uniprot
proteins
pubmed
8317500
uniprot
proteins
pubmed
8411057
uniprot
proteins
pubmed
8514866
uniprot
proteins
pubmed
8664902
uniprot
proteins
pubmed
8680408
uniprot
proteins
pubmed
8884076
uniprot
proteins
pubmed
8990011
uniprot
proteins
pubmed
9036918
uniprot
proteins
pubmed
9101290
uniprot
proteins
pubmed
9147870
uniprot
proteins
pubmed
9452103
uniprot
proteins
sequence_length
1466
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.
uniprot
proteins