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

    Gene ID: 3998, updated on 28-Oct-2024

    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
    NEW
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    Genomic context

    See LMAN1 in Genome Data Viewer
    Location:
    18q21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (59327823..59359265, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (59529314..59560731, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56995055..57026497, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56936011-56936521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9495 Neighboring gene Sharpr-MPRA regulatory region 1890 Neighboring gene retina and anterior neural fold homeobox Neighboring gene complexin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9496 Neighboring gene uncharacterized LOC107985156 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:57053866-57054862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:57122524-57123295 Neighboring gene meiotic recombination hotspot N Neighboring gene ReSE screen-validated silencer GRCh37_chr18:57139771-57139930 Neighboring gene collagen and calcium binding EGF domains 1 Neighboring gene meiotic recombination hotspot L Neighboring gene NANOG hESC enhancer GRCh37_chr18:57214689-57215202 Neighboring gene ACTB pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-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 

    General protein information

    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)

    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.

    Genomic

    1. NG_012097.1 RefSeqGene

      Range
      5012..36454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_595

    mRNA and Protein(s)

    1. NM_005570.4NP_005561.1  protein ERGIC-53 precursor

      See identical proteins and their annotated locations for NP_005561.1

      Status: REVIEWED

      Source sequence(s)
      AC016229, AC067859, AI280513, AK025773, BC032330, DC308886, U09716
      Consensus CDS
      CCDS11974.1
      UniProtKB/Swiss-Prot
      P49257, Q12895, Q8N5I7, Q9UQG1, Q9UQG2, Q9UQG3, Q9UQG4, Q9UQG5, Q9UQG6, Q9UQG7, Q9UQG8, Q9UQG9, Q9UQH0, Q9UQH1, Q9UQH2
      UniProtKB/TrEMBL
      B2R774, Q53FS4
      Related
      ENSP00000251047.4, ENST00000251047.6
      Conserved Domains (1) summary
      cd06902
      Location:44268
      lectin_ERGIC-53_ERGL; ERGIC-53 and ERGL type 1 transmembrane proteins, N-terminal lectin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      59327823..59359265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      59529314..59560731 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)