Homo sapiens Gene: LMAN1
Summary
InnateDB Gene IDBG-4084.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMAN1
Gene Name lectin, mannose-binding, 1
Synonyms ERGIC-53; ERGIC53; F5F8D; FMFD1; gp58; MCFD1; MR60;
Species Homo sapiens
Ensembl Gene ENSG00000074695
Encoded Proteins
lectin, mannose-binding, 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:59327823-59359962
Strand Reverse strand
Band q21.32
Transcripts
ENST00000251047 ENSP00000251047
ENST00000587940
ENST00000592562
ENST00000587918
ENST00000587561
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 36 [view]
Protein-Protein 36 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005537 mannose binding
GO:0046872 metal ion binding
GO:0051082 unfolded protein binding
Biological Process
GO:0006457 protein folding
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007029 endoplasmic reticulum organization
GO:0007030 Golgi organization
GO:0007596 blood coagulation
GO:0010638 positive regulation of organelle organization
GO:0018279 protein N-linked glycosylation via asparagine
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030017 sarcomere
GO:0030134 ER to Golgi transport vesicle
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
Asparagine N-linked glycosylation pathway
Metabolism of proteins pathway
Transport to the Golgi and subsequent modification pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
PID NCI
Signaling events mediated by TCPTP
Cross-References
SwissProt P49257
TrEMBL A0A024R2A7
UniProt Splice Variant
Entrez Gene 3998
UniGene Hs.465295 Hs.615703
RefSeq NM_005570
HUGO HGNC:6631
OMIM 601567
CCDS CCDS11974
HPRD
IMGT
EMBL AF081865 AF081866 AF081867 AF081868 AF081869 AF081870 AF081871 AF081872 AF081873 AF081874 AF081875 AF081876 AF081877 AF081878 AF081879 AF081880 AF081881 AF081882 AF081883 AF081884 AF081885 BC032330 CH471096 U09716 X71661
GenPept AAA95960 AAD32479 AAD32480 AAD32481 AAD32482 AAD32483 AAD32484 AAD32485 AAD32486 AAD32487 AAD32488 AAD32489 AAD32490 AAH32330 CAA50653 EAW63097 EAW63098
RNA Seq Atlas 3998