LMAN1 lectin, mannose-binding, 1 [Homo sapiens] - Gene

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Summary

Official Symbol: LMAN1provided by HGNC
Official Full Name: lectin, mannose-binding, 1provided by HGNC
Primary source: HGNC:6631
See related: Ensembl:ENSG00000074695; HPRD:03338; MIM:601567; Vega:OTTHUMG00000132758
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MR60; gp58; F5F8D; FMFD1; MCFD1; ERGIC53; ERGIC-53
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]

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Genomic context

Location :: 18q21.3-q22

Sequence :: Chromosome: 18; NC_000018.9 (56995055..57026508, complement)

See LMAN1 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Two new mutations at ERGIC-53 gene in a Turkish family.
Title: Two new mutations at ERGIC-53 gene in a Turkish family.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Data present the crystal structure of the LMAN1/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein.
Title: Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.
Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein.
Title: EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.
MBL deposition and gene expression in advanced human atherosclerotic lesions revealed the presence of MBL protein in ruptured but not stable atherosclerotic lesions
Title: Macrophage-specific expression of mannose-binding lectin controls atherosclerosis in low-density lipoprotein receptor-deficient mice.
LMAN1 mutational inactivation is a frequent and early event potentially contributing to colorectal tumorigenesis.
Title: High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability.
Silencing Surf4 together with ERGIC-53 or silencing the p24 family member p25 induced an identical phenotype characterized by a reduced number of ERGIC clusters and fragmentation of the Golgi apparatus without effect on anterograde transport.
Title: The cargo receptors Surf4, endoplasmic reticulum-Golgi intermediate compartment (ERGIC)-53, and p25 are required to maintain the architecture of ERGIC and Golgi.
Data suggest that transient dimerization is an obligatory step in FGFR3 biosynthesis and that TDII/ERGIC-53 complex formation may function as a checkpoint for FGFR3 sorting downstream the endoplasmic reticulum.
Title: Transient dimerization and interaction with ERGIC-53 occur in the fibroblast growth factor receptor 3 early secretory pathway.
Study shows that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi.
Title: Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

Submit: New GeneRIF Correction See all (37)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Combined factor V and VIII deficiency

MIM: 227300

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL	PubMed
	env	Activation of the classical complement pathway by HIV-1 gp120 is initiated by the binding of MBP to carbohydrate side chains of gp120	PubMed
	env	Treatment of HIV-1 gp120 with endoglycosidase H (eH) or endoglycosidase F1 (eF1) abrogates binding of MBL	PubMed
	env	DC-SIGN and MBL bind primarily to glycans on HIV-1 gp120/gp41; preincubation of CXCR4-, CCR5- or dual-tropic HIV-1 strains with MBL prevents DC-SIGN-mediated trans infection of T cells	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P49257	P00451	F8	HPRD	PubMed
P49257	Q8NI22	MCFD2	HPRD	PubMed
BioGRID:110185	BioGRID:108455	F8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110185	BioGRID:124712	MCFD2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110185	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex

Function	Evidence Code	Pubs
identical protein binding	IEA Inferred from Electronic Annotation more info
mannose binding	TAS Traceable Author Statement more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sugar binding	IEA Inferred from Electronic Annotation more info
unfolded protein binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
ER to Golgi vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed
Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
blood coagulation	TAS Traceable Author Statement more info	PubMed
cellular protein metabolic process	TAS Traceable Author Statement more info
NOT early endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
post-translational protein modification	TAS Traceable Author Statement more info
protein N-linked glycosylation via asparagine	TAS Traceable Author Statement more info
NOT protein exit from endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
protein folding	TAS Traceable Author Statement more info	PubMed
protein transport	IEA Inferred from Electronic Annotation more info
vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi membrane	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info
sarcomere	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein ERGIC-53

Names: protein ERGIC-53; intracellular mannose specific lectin; intracellular mannose-specific lectin MR60; ER-Golgi intermediate compartment 53 kDa protein; endoplasmic reticulum-golgi intermediate compartment protein 53

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012097.1 RefSeqGene

Range

5001..36454

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005570.3 → NP_005561.1 protein ERGIC-53 precursor

Status: REVIEWED

Source sequence(s)

AC016229, AC067859, AI280513, AK025773, BC032330, DC308886, U09716

Consensus CDS

CCDS11974.1

UniProtKB/Swiss-Prot

P49257

Related

ENSP00000251047, OTTHUMP00000163644, ENST00000251047, OTTHUMT00000256129

Conserved Domains (1) summary

cd06902
Location:44 – 268
Blast Score: 1225

lectin_ERGIC-53_ERGL; ERGIC-53 and ERGL type 1 transmembrane proteins, N-terminal lectin domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p5 Primary Assembly

Range

56995055..57026508, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

53704319..53735757, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC016229.10 (114346..143783)	None
genomic	AC067859.7 (193619..195608)	None
genomic	AF081866.1	AAD32479.1
genomic	AF081867.1	AAD32480.1
genomic	AF081869.1	AAD32481.1
genomic	AF081871.1	AAD32482.1
genomic	AF081873.1	AAD32483.1
genomic	AF081875.1	AAD32484.1
genomic	AF081877.1	AAD32485.1
genomic	AF081879.1	AAD32486.1
genomic	AF081880.1	AAD32487.1
genomic	AF081882.1	AAD32488.1
genomic	AF081884.1	AAD32489.1
genomic	AF081885.1	AAD32490.1
genomic	CH471096.1	EAW63096.1
		EAW63097.1
		EAW63098.1
mRNA	AI280513.1	None
mRNA	AK025773.1	None
mRNA	AK223208.1	BAD96928.1
mRNA	AK225108.1	None
mRNA	AK225111.1	None
mRNA	AK301244.1	BAG62812.1
mRNA	AK312869.1	BAG35721.1
mRNA	BC008401.1	None
mRNA	BC017858.1	AAH17858.1
mRNA	BC032330.1	AAH32330.1
mRNA	DC308886.1	None
mRNA	U09716.1	AAA95960.1
mRNA	X71661.1	CAA50653.1
other-genetic	DQ891254.2	ABM82180.1
other-genetic	DQ894440.2	ABM85366.1