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

Summary

Official Symbol: LMAN1provided by HGNC
Official Full Name: lectin, mannose binding 1provided by HGNC
Primary source: HGNC:HGNC:6631
See related: Ensembl:ENSG00000074695 MIM:601567; AllianceGenome:HGNC:6631
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 membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]
Expression: Ubiquitous expression in thyroid (RPKM 65.5), liver (RPKM 54.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (59327823..59359265, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (59529314..59560731, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (56995055..57026497, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LMAN1 is a receptor for house dust mite allergens.
Title: LMAN1 is a receptor for house dust mite allergens.
LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of alpha1-antitrypsin.
Title: LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin.
A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.
Title: A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.
MBL may have a role in downregulating inflammation by modulating peptidoglycan- induced TLR2 signaling
Title: Mannan-Binding Lectin Suppresses Peptidoglycan-Induced TLR2 Activation and Inflammatory Responses.
that Multiple coagulation factor deficiency protein 2 promotes cancer metastasis by regulating lectin mannose binding 1 and level of galactoside-binding soluble 3 binding protein expression levels
Title: Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer.
Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2
Title: Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.
Genetic variants in the exon1 of MBL gene per se are not risk factors for Systemic lupus erythematosus (SLE) in South Indian Tamils. However, the association of codon 54 (rs1800450) with medium vessel vasculitis suggests that it may be a genetic modifier of clinical phenotype in SLE.
Title: Mannose-binding lectin (MBL) codon 54 (rs1800450) polymorphism predisposes towards medium vessel vasculitis in patients with systemic lupus erythematosus.
Mannan-binding lectin reduces CpG DNA-induced inflammatory cytokine production in monocytes.
Title: Mannan-binding lectin reduces CpG DNA-induced inflammatory cytokine production by human monocytes.
MMP-9 secretion was reduced in the LMAN1 knockout cell line compared to control cells confirming the functional role of LMAN1.
Title: LMAN1 (ERGIC-53) is a potential carrier protein for matrix metalloproteinase-9 glycoprotein secretion.
Authors identified a class of pathogen-derived ERGIC-53 ligands, a lectin-independent basis for their association with ERGIC-53, and a role for ERGIC-53 in the propagation of several highly pathogenic RNA virus families.
Title: The intracellular cargo receptor ERGIC-53 is required for the production of infectious arenavirus, coronavirus, and filovirus particles.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Factor V and factor VIII, combined deficiency of, type 1 MedGen: C4551981 OMIM: 227300 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with LMAN1; predicted interaction to be within the endoplasmic reticulum	PubMed
	env	HIV-1 gp160 is identified to have a physical interaction with lectin, mannose-binding 1 (LMAN1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with lectin, mannose-binding 1 (LMAN1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
	env	DC-SIGN and MBL bind primarily to glycans on HIV-1 gp120gp41; preincubation of CXCR4-, CCR5- or dual-tropic HIV-1 strains with MBL prevents DC-SIGN-mediated trans infection of T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11993 (e-PCR)
- UniSTS:69124

D18S948E (e-PCR)
- UniSTS:150540

RH47264 (e-PCR)
- UniSTS:43332

SHGC-12001 (e-PCR)
- UniSTS:57691

D18928 (e-PCR)
- UniSTS:124782

RH48271 (e-PCR)
- UniSTS:19352

D18S896E (e-PCR)
- UniSTS:4556

STS-U09716 (e-PCR)
- UniSTS:22732

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mannose binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood coagulation	TAS Traceable Author Statement more info	PubMed
NOT involved_in early endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in positive regulation of organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in protein exit from endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in COPII-coated ER to Golgi transport vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in sarcomere	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein ERGIC-53

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

NCBI Reference Sequences (RefSeq)

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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.