MFAP5
entrez
8076
canonical
uniprot
Q13361
canonical
ensembl
ENSG00000197614
resolver
ensp
ENSP00000352455
resolver
ensp
ENSP00000379798
resolver
ensp
ENSP00000411997
resolver
ensp
ENSP00000438525
resolver
ensp
ENSP00000441492
resolver
enst
ENST00000433590
resolver
enst
ENST00000535336
resolver
enst
ENST00000543369
resolver
genesymbol
MFAP5
resolver
genesymbol_syn
MAGP2
resolver
hgnc
HGNC:29673
resolver
uniprot
B0AZL6
resolver
uniprot
B3KW70
resolver
uniprot
D3DUV1
resolver
uniprot
F5GYX4
resolver
uniprot
F5H413
resolver
uniprot
F6UJ56
resolver
uniprot
Q7Z490
resolver
uniprot_entry
B3KW70_HUMAN
resolver
uniprot_entry
F5GYX4_HUMAN
resolver
uniprot_entry
F5H413_HUMAN
resolver
uniprot_entry
F6UJ56_HUMAN
resolver
uniprot_entry
MFAP5_HUMAN
resolver
uniprot_sec
B0AZL6
resolver
uniprot_sec
D3DUV1
resolver
uniprot_sec
Q7Z490
resolver
amino_acid_sequence
MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTEDPNLVNDPATDETVLAVLADIAPSTDDLASLSEKNTTAECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLPPCENVDLQRPNGL
uniprot
proteins
disease_involvement
DISEASE: Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269|PubMed:25434006}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636). {ECO:0000250|UniProtKB:Q9QZJ6, ECO:0000269|PubMed:8557636}.
uniprot
proteins
mass_dalton
19612
uniprot
proteins
post_translational_modification
PTM: Forms intermolecular disulfide bonds either with other MAGP-2 molecules or with other components of the microfibrils.; PTM: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycan heterogeneity at Thr-54: HexHexNAc (major) and HexHexNAc + sulfate (minor). {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:22171320}.
uniprot
proteins
protein_family
MFAP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
22171320
uniprot
proteins
pubmed
25434006
uniprot
proteins
pubmed
8557636
uniprot
proteins
pubmed
9792630
uniprot
proteins
sequence_length
173
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
uniprot
proteins