LMAN1

GENE INFORMATION

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Gene name

LMAN1 (HGNC Symbol)

Synonyms

ERGIC-53, ERGIC53, F5F8D, FMFD1, gp58, MCFD1, MR60

Description

Lectin, mannose-binding, 1 (HGNC Symbol)

Entrez gene summary

The 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]

Chromosome

18

Cytoband

q21.32

Chromosome location (bp)

59327823 - 59359962

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000074695 (version 78.38)

Entrez gene

3998

UniProt

P49257 (UniProt - Evidence at protein level)

neXtProt

NX_P49257

Antibodypedia

LMAN1 antibodies
 

PROTEIN VIEW

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LMAN1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LMAN1-001 ENSP00000251047
ENST00000251047
P49257
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Show » Show » 510 57.5 Yes 1