MMP21
entrez
118856
canonical
uniprot
Q8N119
canonical
ensembl
ENSG00000154485
resolver
ensp
ENSP00000357798
resolver
enst
ENST00000368808
resolver
genesymbol
MMP21
resolver
hgnc
HGNC:14357
resolver
uniprot
Q5VZP9
resolver
uniprot
Q8NG02
resolver
uniprot_entry
MMP21_HUMAN
resolver
uniprot_sec
Q5VZP9
resolver
uniprot_sec
Q8NG02
resolver
amino_acid_sequence
MLAASIFRPTLLLCWLAAPWPTQPESLFHSRDRSDLEPSPLRQAKPIADLHAAQRFLSRYGWSGVWAAWGPSPEGPPETPKGAALAEAVRRFQRANALPASGELDAATLAAMNRPRCGVPDMRPPPPSAPPSPPGPPPRARSRRSPRAPLSLSRRGWQPRGYPDGGAAQAFSKRTLSWRLLGEALSSQLSVADQRRIVALAFRMWSEVTPLDFREDLAAPGAAVDIKLGFGRGRHLGCPRAFDGSGQEFAHAWRLGDIHFDDDEHFTPPTSDTGISLLKVAVHEIGHVLGLPHTYRTGSIMQPNYIPQEPAFELDWSDRKAIQKLYGSCEGSFDTAFDWIRKERNQYGEVMVRFSTYFFRNSWYWLYENRNNRTRYGDPIQILTGWPGIPTHNIDAFVHIWTWKRDERYFFQGNQYWRYDSDKDQALTEDEQGKSYPKLISEGFPGIPSPLDTAFYDRRQKLIYFFKESLVFAFDVNRNRVLNSYPKRITEVFPAVIPQNHPFRNIDSAYYSYAYNSIFFFKGNAYWKVVNDKDKQQNSWLPANGLFPKKFISEKWFDVCDVHISTLNM
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 7, autosomal (HTX7) [MIM:616749]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive. {ECO:0000269|PubMed:26429889, ECO:0000269|PubMed:26437028, ECO:0000269|PubMed:26437029}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.-
uniprot
proteins
function
FUNCTION: Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway (PubMed:26429889, PubMed:26437028). Cleaves alpha-1-antitrypsin (PubMed:12617721). {ECO:0000269|PubMed:12617721, ECO:0000269|PubMed:26429889, ECO:0000269|PubMed:26437028}.
uniprot
proteins
mass_dalton
65043
uniprot
proteins
post_translational_modification
PTM: The precursor is cleaved by a furin endopeptidase. {ECO:0000250}.
uniprot
proteins
protein_family
Peptidase M10A family
uniprot
proteins
pubmed
12490321
uniprot
proteins
pubmed
12617721
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
26429889
uniprot
proteins
pubmed
26437028
uniprot
proteins
pubmed
26437029
uniprot
proteins
sequence_length
569
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins