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

    Gene ID: 70361, updated on 11-Apr-2024

    Summary

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    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 identical protein binding activity and mannose 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. 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, Apr 2022]
    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    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. Regulation of ERGIC-53 gene transcription in response to endoplasmic reticulum stress. Renna M, et al. J Biol Chem, 2007 Aug 3. PMID 17535801

    See all (53) 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

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    Alleles

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

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by MGI

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

    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.

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