U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 70361, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Lman1 in Genome Data Viewer
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_000084.7Genomic Context describing neighboring genes Neighboring gene retina and anterior neural fold homeobox Neighboring gene complexin 4 Neighboring gene STARR-positive B cell enhancer ABC_E1962 Neighboring gene STARR-seq mESC enhancer starr_44856 Neighboring gene collagen and calcium binding EGF domains 1 Neighboring gene STARR-seq mESC enhancer starr_44857 Neighboring gene microRNA 694 Neighboring gene STARR-seq mESC enhancer starr_44859 Neighboring gene predicted gene 15958

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data 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

Go to the top of the pageHelp

Related articles in PubMed

  1. LMAN1 (ERGIC-53) promotes trafficking of neuroreceptors. Fu YL, et al. Biochem Biophys Res Commun, 2019 Apr 2. PMID 30791981, Free PMC Article
  2. In vivo function of the ER-Golgi transport protein LMAN1 in photoreceptor homeostasis. Hao H, et al. Adv Exp Med Biol, 2014. PMID 24664723, Free PMC Article
  3. Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression. Everett LA, et al. Blood Adv, 2020 Nov 24. PMID 33196840, Free PMC Article
  4. Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo. Zhu M, et al. Blood Adv, 2018 May 8. PMID 29735583, Free PMC Article
  5. ER storage diseases: a role for ERGIC-53 in controlling the formation and shape of Russell bodies. Mattioli L, et al. J Cell Sci, 2006 Jun 15. PMID 16735443

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. LMAN1 promotes the surface trafficking of endogenous gamma-aminobutyric acid type A receptors.
    Title: LMAN1 (ERGIC-53) promotes trafficking of neuroreceptors.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 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

Go to the top of the page Help
Preferred Names
protein ERGIC-53
Names
ER-Golgi intermediate compartment 53 kDa protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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

    See identical proteins and their annotated locations for NP_001165533.1

    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

  2. NM_027400.3 → NP_081676.1  protein ERGIC-53 precursor

    See identical proteins and their annotated locations for NP_081676.1

    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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    66113810..66135706 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D0F3.1 GenPept UniProtKB/Swiss-Prot:Q9D0F3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous