COL4A6
entrez
1288
canonical
uniprot
Q14031
canonical
ensembl
ENSG00000197565
resolver
ensp
ENSP00000334733
resolver
ensp
ENSP00000361290
resolver
ensp
ENSP00000378340
resolver
ensp
ENSP00000445236
resolver
ensp
ENSP00000482970
resolver
ensp
ENSP00000785200
resolver
enst
ENST00000394872
resolver
enst
ENST00000538570
resolver
enst
ENST00000621266
resolver
genesymbol
COL4A6
resolver
hgnc
HGNC:2208
resolver
uniprot
A0A087WZY5
resolver
uniprot
A8MXH5
resolver
uniprot
A8VPY0
resolver
uniprot
B2RTX6
resolver
uniprot
B7ZMM7
resolver
uniprot
F5H3Q5
resolver
uniprot
Q12823
resolver
uniprot
Q14053
resolver
uniprot
Q5JYH6
resolver
uniprot
Q5JYH8
resolver
uniprot
Q9NQM5
resolver
uniprot
Q9NTX3
resolver
uniprot
Q9UJ76
resolver
uniprot
Q9UMG6
resolver
uniprot
Q9Y4L4
resolver
uniprot_entry
A0A087WZY5_HUMAN
resolver
uniprot_entry
A8MXH5_HUMAN
resolver
uniprot_entry
A8VPY0_HUMAN
resolver
uniprot_entry
B2RTX6_HUMAN
resolver
uniprot_entry
B7ZMM7_HUMAN
resolver
uniprot_entry
CO4A6_HUMAN
resolver
uniprot_entry
F5H3Q5_HUMAN
resolver
uniprot_sec
Q12823
resolver
uniprot_sec
Q14053
resolver
uniprot_sec
Q5JYH6
resolver
uniprot_sec
Q5JYH8
resolver
uniprot_sec
Q9NQM5
resolver
uniprot_sec
Q9NTX3
resolver
uniprot_sec
Q9UJ76
resolver
uniprot_sec
Q9UMG6
resolver
uniprot_sec
Q9Y4L4
resolver
amino_acid_sequence
MLINKLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARGRPGPIGIQGPTGPQGFTGSTGLSGLKGERGFPGLLGPYGPKGDKGPMGVPGFLGINGIPGHPGQPGPRGPPGLDGCNGTQGAVGFPGPDGYPGLLGPPGLPGQKGSKGDPVLAPGSFKGMKGDPGLPGLDGITGPQGAPGFPGAVGPAGPPGLQGPPGPPGPLGPDGNMGLGFQGEKGVKGDVGLPGPAGPPPSTGELEFMGFPKGKKGSKGEPGPKGFPGISGPPGFPGLGTTGEKGEKGEKGIPGLPGPRGPMGSEGVQGPPGQQGKKGTLGFPGLNGFQGIEGQKGDIGLPGPDVFIDIDGAVISGNPGDPGVPGLPGLKGDEGIQGLRGPSGVPGLPALSGVPGALGPQGFPGLKGDQGNPGRTTIGAAGLPGRDGLPGPPGPPGPPSPEFETETLHNKESGFPGLRGEQGPKGNLGLKGIKGDSGFCACDGGVPNTGPPGEPGPPGPWGLIGLPGLKGARGDRGSGGAQGPAGAPGLVGPLGPSGPKGKKGEPILSTIQGMPGDRGDSGSQGFRGVIGEPGKDGVPGLPGLPGLPGDGGQGFPGEKGLPGLPGEKGHPGPPGLPGNGLPGLPGPRGLPGDKGKDGLPGQQGLPGSKGITLPCIIPGSYGPSGFPGTPGFPGPKGSRGLPGTPGQPGSSGSKGEPGSPGLVHLPELPGFPGPRGEKGLPGFPGLPGKDGLPGMIGSPGLPGSKGATGDIFGAENGAPGEQGLQGLTGHKGFLGDSGLPGLKGVHGKPGLLGPKGERGSPGTPGQVGQPGTPGSSGPYGIKGKSGLPGAPGFPGISGHPGKKGTRGKKGPPGSIVKKGLPGLKGLPGNPGLVGLKGSPGSPGVAGLPALSGPKGEKGSVGFVGFPGIPGLPGIPGTRGLKGIPGSTGKMGPSGRAGTPGEKGDRGNPGPVGIPSPRRPMSNLWLKGDKGSQGSAGSNGFPGPRGDKGEAGRPGPPGLPGAPGLPGIIKGVSGKPGPPGFMGIRGLPGLKGSSGITGFPGMPGESGSQGIRGSPGLPGASGLPGLKGDNGQTVEISGSPGPKGQPGESGFKGTKGRDGLIGNIGFPGNKGEDGKVGVSGDVGLPGAPGFPGVAGMRGEPGLPGSSGHQGAIGPLGSPGLIGPKGFPGFPGLHGLNGLPGTKGTHGTPGPSITGVPGPAGLPGPKGEKGYPGIGIGAPGKPGLRGQKGDRGFPGLQGPAGLPGAPGISLPSLIAGQPGDPGRPGLDGERGRPGPAGPPGPPGPSSNQGDTGDPGFPGIPGPKGPKGDQGIPGFSGLPGELGLKGMRGEPGFMGTPGKVGPPGDPGFPGMKGKAGPRGSSGLQGDPGQTPTAEAVQVPPGPLGLPGIDGIPGLTGDPGAQGPVGLQGSKGLPGIPGKDGPSGLPGPPGALGDPGLPGLQGPPGFEGAPGQQGPFGMPGMPGQSMRVGYTLVKHSQSEQVPPCPIGMSQLWVGYSLLFVEGQEKAHNQDLGFAGSCLPRFSTMPFIYCNINEVCHYARRNDKSYWLSTTAPIPMMPVSQTQIPQYISRCSVCEAPSQAIAVHSQDITIPQCPLGWRSLWIGYSFLMHTAAGAEGGGQSLVSPGSCLEDFRATPFIECSGARGTCHYFANKYSFWLTTVEERQQFGELPVSETLKAGQLHTRVSRCQVCMKSL
uniprot
proteins
disease_involvement
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).; DISEASE: Deafness, X-linked, 6 (DFNX6) [MIM:300914]: A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:23714752}. Note=The disease is caused by variants affecting the gene represented in this entry.
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
163807
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
12784310
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
23714752
uniprot
proteins
pubmed
7657706
uniprot
proteins
pubmed
8125972
uniprot
proteins
pubmed
8175748
uniprot
proteins
pubmed
8356449
uniprot
proteins
pubmed
8661006
uniprot
proteins
pubmed
9671947
uniprot
proteins
sequence_length
1691
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:7657706, ECO:0000269|PubMed:9671947}.
uniprot
proteins