InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-4086

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

ENSMUSG00000041891

View Gene Order

ENSBTAG00000006833

Not yet available

Pathways

NETPATH

REACTOME

REACT_25046

Transport to the Golgi and subsequent modification pathway

REACT_22426

Asparagine N-linked glycosylation pathway

REACT_22161

Post-translational protein modification pathway

REACT_17015

Metabolism of proteins pathway

KEGG

hsa04141

Protein processing in endoplasmic reticulum pathway

INOH

PID NCI

tcptp_pathway

Signaling events mediated by TCPTP

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.465295 Hs.615703

RefSeq

NM_005570

HUGO

OMIM

CCDS

CCDS11974

HPRD

03338

IMGT

EMBL

GenPept

RNA Seq Atlas