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MGP001827

Record overview

MGPD IDMGP001827
Gene ID3998
SpeciesHomo sapiens (Human)
Gene Namelectin, mannose-binding, 1
Gene Symbol LMAN1
SynonymsMR60; gp58; F5F8D; FMFD1; MCFD1; ERGIC53; ERGIC-53;
Alternate namesprotein ERGIC-53; ER-Golgi intermediate compartment 53 kDa protein; endoplasmic reticulum-golgi intermediate compartment protein 53; intracellular mannose specific lectin; intracellular mannose-specific lectin MR60;
Chromosome18
Map Location18q21.3-q22
SummaryThe protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for LMAN1

Proteins

protein ERGIC-53 precursor
Refseq ID:NP_005561
Protein GI:5031873
UniProt ID:P49257
mRNA ID:NM_005570
Length:510
RefSeq Status:
MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHRRFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAA
FENWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKKNNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYP
VRAKITYYQNTLTVMINNGFTPDKNDYEFCAKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPTPDKEISEKEKEKYQEEFEHFQQEL
DKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQVFEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEIL
RQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRS
QQEAAAKKFF
 
sig_peptide: 1..30
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3358
peptide sequence: 
MAGSRQRGLRARVRPLFCALLLSLGRFVRG

mat_peptide: 31..510
product: protein ERGIC-53
calculated_mol_wt: 54209
peptide sequence: 
DGVGGDPAVALPHRRFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFENWEVEVTFRVTGRGRIGADGLAIWYAEN
QGLEGPVFGSADLWNGVGIFFDSFDNDGKKNNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINNGFTPDKNDYEFC
AKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPTPDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAEEIFESVGDRE
LRQVFEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEILRQVNEMKNSMSETVRLVSGMQHPGSAGGVY
ETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRSQQEAAAKKFF
 
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