COL4A5
entrez
1287
canonical
uniprot
P29400
canonical
ensembl
ENSG00000188153
resolver
ensp
ENSP00000331902
resolver
ensp
ENSP00000354505
resolver
ensp
ENSP00000495685
resolver
ensp
ENSP00000795845
resolver
enst
ENST00000483338
resolver
genesymbol
COL4A5
resolver
hgnc
HGNC:2207
resolver
uniprot
A0A2R8Y6Z4
resolver
uniprot
A7MBN3
resolver
uniprot
Q16006
resolver
uniprot
Q16126
resolver
uniprot
Q49AM6
resolver
uniprot
Q6LD84
resolver
uniprot
Q7Z700
resolver
uniprot
Q9NUB7
resolver
uniprot_entry
A0A2R8Y6Z4_HUMAN
resolver
uniprot_entry
A7MBN3_HUMAN
resolver
uniprot_entry
CO4A5_HUMAN
resolver
uniprot_entry
Q49AM6_HUMAN
resolver
uniprot_sec
Q16006
resolver
uniprot_sec
Q16126
resolver
uniprot_sec
Q6LD84
resolver
uniprot_sec
Q7Z700
resolver
uniprot_sec
Q9NUB7
resolver
amino_acid_sequence
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPGIQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGNIGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPGPPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDTCFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGFPGSKGEPGDILTFPGMKGDKGELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKGERGPPGNPGLPGLPGNIGPMGPPGFGPPGPVGEKGIQGVAGNPGQPGIPGPKGDPGQTITQPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGEPGIPGIGLPGPPGPKGFPGIPGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGALGPKGDRGFPGPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHGIPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGMMGPPGPPGPLGIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLLGSKGEKGEPGLPGIPGVSGPKGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLIGPPGLKGTIGDMGFPGPQGVEGPPGPSGVPGQPGSPGLPGQKGDKGDPGISSIGLPGLPGPKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGLPGFPGTPGPPGPKGISGPPGNPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFGNPGPPGLPGLSGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPPGRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMKGDPGLPGVPGFPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGIPGQPGLKGLPGPQGPQGLPGPTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGPPGPDGLQGPPGPPGTSSVAHGFLITRHSQTTDAPQCPQGTLQVYEGFSLLYVQGNKRAHGQDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLSTPEPMPMSMQPLKGQSIQPFISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQVCMKRT
uniprot
proteins
disease_involvement
DISEASE: Alport syndrome 1, X-linked (ATS1) [MIM:301050]: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269|PubMed:10094548, ECO:0000269|PubMed:10561141, ECO:0000269|PubMed:10563487, ECO:0000269|PubMed:10684360, ECO:0000269|PubMed:10862091, ECO:0000269|PubMed:11004279, ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:1352287, ECO:0000269|PubMed:1363780, ECO:0000269|PubMed:1376965, ECO:0000269|PubMed:1598909, ECO:0000269|PubMed:1672282, ECO:0000269|PubMed:24522658, ECO:0000269|PubMed:7599631, ECO:0000269|PubMed:7706490, ECO:0000269|PubMed:7853788, ECO:0000269|PubMed:7969679, ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:8648925, ECO:0000269|PubMed:8651292, ECO:0000269|PubMed:8651296, ECO:0000269|PubMed:8738805, ECO:0000269|PubMed:8825605, ECO:0000269|PubMed:8829632, ECO:0000269|PubMed:8940267, ECO:0000269|PubMed:9150741, ECO:0000269|PubMed:9452056, ECO:0000269|PubMed:9848783}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
uniprot
proteins
function
FUNCTION: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
uniprot
proteins
mass_dalton
161044
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000255|PROSITE-ProRule:PRU00736}.; PTM: Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens. {ECO:0000255|PROSITE-ProRule:PRU00736}.; PTM: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. {ECO:0000250|UniProtKB:P02462}.
uniprot
proteins
protein_family
Type IV collagen family
uniprot
proteins
pubmed
10094548
uniprot
proteins
pubmed
10561141
uniprot
proteins
pubmed
10563487
uniprot
proteins
pubmed
10684360
uniprot
proteins
pubmed
10862091
uniprot
proteins
pubmed
11004279
uniprot
proteins
pubmed
11223851
uniprot
proteins
pubmed
12784310
uniprot
proteins
pubmed
1352287
uniprot
proteins
pubmed
1363780
uniprot
proteins
pubmed
1376965
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1598909
uniprot
proteins
pubmed
1672282
uniprot
proteins
pubmed
1689491
uniprot
proteins
pubmed
2004755
uniprot
proteins
pubmed
2339699
uniprot
proteins
pubmed
2380186
uniprot
proteins
pubmed
24522658
uniprot
proteins
pubmed
7599631
uniprot
proteins
pubmed
7657706
uniprot
proteins
pubmed
7706490
uniprot
proteins
pubmed
7853788
uniprot
proteins
pubmed
7969679
uniprot
proteins
pubmed
8120014
uniprot
proteins
pubmed
8301933
uniprot
proteins
pubmed
8356449
uniprot
proteins
pubmed
8406498
uniprot
proteins
pubmed
8648925
uniprot
proteins
pubmed
8651292
uniprot
proteins
pubmed
8651296
uniprot
proteins
pubmed
8738805
uniprot
proteins
pubmed
8825605
uniprot
proteins
pubmed
8829632
uniprot
proteins
pubmed
8940267
uniprot
proteins
pubmed
9150741
uniprot
proteins
pubmed
9195222
uniprot
proteins
pubmed
9452056
uniprot
proteins
pubmed
9671947
uniprot
proteins
pubmed
9848783
uniprot
proteins
sequence_length
1685
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:7657706, ECO:0000269|PubMed:9671947}.
uniprot
proteins