Lman1 lectin, mannose-binding, 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lman1provided by MGI
Official Full Name: lectin, mannose-binding, 1provided by MGI
Primary source: MGI:MGI:1917611
See related: Ensembl:ENSMUSG00000041891 AllianceGenome:MGI:1917611
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P58; MR60; gp58; F5F8D; MCFD1; ERGIC53; C730041J05; 2610020P13Rik
Summary: Predicted to enable D-mannose binding activity; identical protein binding activity; and metal ion binding activity. Acts upstream of or within endoplasmic reticulum organization. Located in several cellular components, including COPII-coated ER to Golgi transport vesicle; endoplasmic reticulum-Golgi intermediate compartment; and sarcomere. Is expressed in pancreas epithelium and skeletal muscle. Human ortholog(s) of this gene implicated in factor V deficiency and factor XIII deficiency. Orthologous to human LMAN1 (lectin, mannose binding 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 37.0), limb E14.5 (RPKM 32.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 39.08 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (66113810..66135706, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (65980739..66002635, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.
Title: Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.
LMAN1 promotes the surface trafficking of endogenous gamma-aminobutyric acid type A receptors.
Title: LMAN1 (ERGIC-53) promotes trafficking of neuroreceptors.
MCFD2-deficient mice generated by gene targeting also demonstrate reduced plasma FV and FVIII, with levels lower than those in LMAN1-deficient mice, similar to previous observations in LMAN1- and MCDF2-deficient humans.
Title: Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo.
LMAN1 may play a role in photoreceptor gene transport and homeostasis.
Title: In vivo function of the ER-Golgi transport protein LMAN1 in photoreceptor homeostasis.
Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of alpha1-antitrypsin.
Title: Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin.
ERGIC-53 gene transcription is regulated in response to endoplasmic reticulum stress
Title: Regulation of ERGIC-53 gene transcription in response to endoplasmic reticulum stress.
These results indicate that increased levels of cargo receptor proteins might have a function either in the quality control of protein folding in the endoplasmic reticulum or in the homeostasis of the intermediate compartment and Golgi complex.
Title: Nitric oxide-induced endoplasmic reticulum stress activates the expression of cargo receptor proteins and alters the glycoprotein transport to the Golgi complex.
surfactant proteins A and D and mannose-binding lectin play roles in inflammation caused by DNA in lungs and other tissues
Title: Nucleic acid is a novel ligand for innate, immune pattern recognition collectins surfactant proteins A and D and mannose-binding lectin.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237828

D18928 (e-PCR)
- UniSTS:124782

AI326273 (e-PCR)
- UniSTS:160767

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables D-mannose binding	IBA Inferred from Biological aspect of Ancestor more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IEA Inferred from Electronic Annotation more info
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within endoplasmic reticulum to Golgi vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of organelle organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of organelle organization	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

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 COPII-coated ER to Golgi transport vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein ERGIC-53

Names: ER-Golgi intermediate compartment 53 kDa protein

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.

mRNA and Protein(s)

NM_001172062.1 → NP_001165533.1 protein ERGIC-53 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC152076, AK011495, BY766745

Consensus CDS

CCDS29313.1

UniProtKB/Swiss-Prot

Q9D0F3

UniProtKB/TrEMBL

Q3U944

Related

ENSMUSP00000158495.2, ENSMUST00000236866.2

Conserved Domains (1) summary

cd06902
Location:52 → 276

lectin_ERGIC-53_ERGL; ERGIC-53 and ERGL type 1 transmembrane proteins, N-terminal lectin domain
NM_027400.3 → NP_081676.1 protein ERGIC-53 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK011495, BF662012, BY766745, CN536547, DV043207, DV659063

Consensus CDS

CCDS29313.1

UniProtKB/Swiss-Prot

Q9D0F3

UniProtKB/TrEMBL

Q3U944

Related

ENSMUSP00000040140.8, ENSMUST00000048260.15

Conserved Domains (1) summary

cd06902
Location:52 → 276

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