MMRN1
entrez
22915
canonical
uniprot
Q13201
canonical
ensembl
ENSG00000138722
resolver
ensp
ENSP00000264790
resolver
ensp
ENSP00000378431
resolver
ensp
ENSP00000426461
resolver
ensp
ENSP00000547553
resolver
enst
ENST00000508372
resolver
genesymbol
MMRN1
resolver
genesymbol_syn
ECM
resolver
genesymbol_syn
EMILIN4
resolver
genesymbol_syn
GPIA*
resolver
genesymbol_syn
MMRN
resolver
hgnc
HGNC:7178
resolver
uniprot
E7EPG1
resolver
uniprot
Q4W5L1
resolver
uniprot
Q6P3T8
resolver
uniprot
Q6ZUL9
resolver
uniprot_entry
E7EPG1_HUMAN
resolver
uniprot_entry
MMRN1_HUMAN
resolver
uniprot_sec
Q4W5L1
resolver
uniprot_sec
Q6P3T8
resolver
uniprot_sec
Q6ZUL9
resolver
amino_acid_sequence
MKGARLFVLLSSLWSGGIGLNNSKHSWTIPEDGNSQKTMPSASVPPNKIQSLQILPTTRVMSAEIATTPEARTSEDSLLKSTLPPSETSAPAEGVRNQTLTSTEKAEGVVKLQNLTLPTNASIKFNPGAESVVLSNSTLKFLQSFARKSNEQATSLNTVGGTGGIGGVGGTGGVGNRAPRETYLSRGDSSSSQRTDYQKSNFETTRGKNWCAYVHTRLSPTVILDNQVTYVPGGKGPCGWTGGSCPQRSQKISNPVYRMQHKIVTSLDWRCCPGYSGPKCQLRAQEQQSLIHTNQAESHTAVGRGVAEQQQQQGCGDPEVMQKMTDQVNYQAMKLTLLQKKIDNISLTVNDVRNTYSSLEGKVSEDKSREFQSLLKGLKSKSINVLIRDIVREQFKIFQNDMQETVAQLFKTVSSLSEDLESTRQIIQKVNESVVSIAAQQKFVLVQENRPTLTDIVELRNHIVNVRQEMTLTCEKPIKELEVKQTHLEGALEQEHSRSILYYESLNKTLSKLKEVHEQLLSTEQVSDQKNAPAAESVSNNVTEYMSTLHENIKKQSLMMLQMFEDLHIQESKINNLTVSLEMEKESLRGECEDMLSKCRNDFKFQLKDTEENLHVLNQTLAEVLFPMDNKMDKMSEQLNDLTYDMEILQPLLEQGASLRQTMTYEQPKEAIVIRKKIENLTSAVNSLNFIIKELTKRHNLLRNEVQGRDDALERRINEYALEMEDGLNKTMTIINNAIDFIQDNYALKETLSTIKDNSEIHHKCTSDMETILTFIPQFHRLNDSIQTLVNDNQRYNFVLQVAKTLAGIPRDEKLNQSNFQKMYQMFNETTSQVRKYQQNMSHLEEKLLLTTKISKNFETRLQDIESKVTQTLIPYYISVKKGSVVTNERDQALQLQVLNSRFKALEAKSIHLSINFFSLNKTLHEVLTMCHNASTSVSELNATIPKWIKHSLPDIQLLQKGLTEFVEPIIQIKTQAALSNLTCCIDRSLPGSLANVVKSQKQVKSLPKKINALKKPTVNLTTVLIGRTQRNTDNIIYPEEYSSCSRHPCQNGGTCINGRTSFTCACRHPFTGDNCTIKLVEENALAPDFSKGSYRYAPMVAFFASHTYGMTIPGPILFNNLDVNYGASYTPRTGKFRIPYLGVYVFKYTIESFSAHISGFLVVDGIDKLAFESENINSEIHCDRVLTGDALLELNYGQEVWLRLAKGTIPAKFPPVTTFSGYLLYRT
uniprot
proteins
disease_involvement
DISEASE: Note=Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is associated with an autosomal dominant bleeding disorder (factor V Quebec). {ECO:0000269|PubMed:8652809}.
uniprot
proteins
function
FUNCTION: Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein. {ECO:0000269|PubMed:16363244, ECO:0000269|PubMed:19132231, ECO:0000269|PubMed:7629143}.
uniprot
proteins
mass_dalton
138110
uniprot
proteins
mutagenesis
MUTAGEN 216; /note="T->A: Strongly reduced protein secretion."; /evidence="ECO:0000269|PubMed:38237698, ECO:0000269|PubMed:39775168"; MUTAGEN 265; /note="T->A: Does not significantly affect protein secretion."; /evidence="ECO:0000269|PubMed:39775168"; MUTAGEN 1055; /note="T->A: Abolishes protein secretion."; /evidence="ECO:0000269|PubMed:38237698, ECO:0000269|PubMed:39775168
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked. {ECO:0000269|PubMed:7629143}.; PTM: Extensively N-glycosylated. {ECO:0000269|PubMed:16263699, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218}.; PTM: O-fucosylated within the EMI domain (at Thr-216 and Thr-265) by POFUT3 and POFUT4 (PubMed:39775168). O-fucosylation at Thr-216 and Thr-1055 are required for facilitating protein folding and secretion (PubMed:38237698, PubMed:39775168). {ECO:0000269|PubMed:38237698, ECO:0000269|PubMed:39775168}.
uniprot
proteins
pubmed
10613677
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16363244
uniprot
proteins
pubmed
19132231
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
38237698
uniprot
proteins
pubmed
39775168
uniprot
proteins
pubmed
7629143
uniprot
proteins
pubmed
8514871
uniprot
proteins
pubmed
8652809
uniprot
proteins
pubmed
9798985
uniprot
proteins
sequence_length
1228
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:38237698, ECO:0000269|PubMed:39775168}. Note=O-fucosylation of Thr-216 and Thr-1055 is important for protein secretion. {ECO:0000269|PubMed:38237698, ECO:0000269|PubMed:39775168}.
uniprot
proteins