LMAN1
entrez
3998
canonical
uniprot
P49257
canonical
ensembl
ENSG00000074695
resolver
ensp
ENSP00000251047
resolver
enst
ENST00000251047
resolver
genesymbol
LMAN1
resolver
genesymbol_syn
ERGIC53
resolver
genesymbol_syn
F5F8D
resolver
hgnc
HGNC:6631
resolver
uniprot
Q12895
resolver
uniprot
Q8N5I7
resolver
uniprot
Q9UQG1
resolver
uniprot
Q9UQG2
resolver
uniprot
Q9UQG3
resolver
uniprot
Q9UQG4
resolver
uniprot
Q9UQG5
resolver
uniprot
Q9UQG6
resolver
uniprot
Q9UQG7
resolver
uniprot
Q9UQG8
resolver
uniprot
Q9UQG9
resolver
uniprot
Q9UQH0
resolver
uniprot
Q9UQH1
resolver
uniprot
Q9UQH2
resolver
uniprot_entry
LMAN1_HUMAN
resolver
uniprot_sec
Q12895
resolver
uniprot_sec
Q8N5I7
resolver
uniprot_sec
Q9UQG1
resolver
uniprot_sec
Q9UQG2
resolver
uniprot_sec
Q9UQG3
resolver
uniprot_sec
Q9UQG4
resolver
uniprot_sec
Q9UQG5
resolver
uniprot_sec
Q9UQG6
resolver
uniprot_sec
Q9UQG7
resolver
uniprot_sec
Q9UQG8
resolver
uniprot_sec
Q9UQG9
resolver
uniprot_sec
Q9UQH0
resolver
uniprot_sec
Q9UQH1
resolver
uniprot_sec
Q9UQH2
resolver
amino_acid_sequence
MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHRRFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFENWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKKNNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINNGFTPDKNDYEFCAKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPTPDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQVFEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEILRQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRSQQEAAAKKFF
uniprot
proteins
disease_involvement
DISEASE: Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269|PubMed:10090935, ECO:0000269|PubMed:19787799}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:13130098}.
uniprot
proteins
mass_dalton
57549
uniprot
proteins
post_translational_modification
PTM: The N-terminal may be partly blocked.
uniprot
proteins
pubmed
10090935
uniprot
proteins
pubmed
11840567
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
12717434
uniprot
proteins
pubmed
13130098
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16257008
uniprot
proteins
pubmed
19787799
uniprot
proteins
pubmed
20138881
uniprot
proteins
pubmed
20142513
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22337587
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24806965
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31142615
uniprot
proteins
pubmed
34779586
uniprot
proteins
pubmed
7876089
uniprot
proteins
pubmed
8205612
uniprot
proteins
pubmed
8223692
uniprot
proteins
sequence_length
510
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 478..498; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins