Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 3998, updated on 26-Aug-2014
Official Symbol
LMAN1provided by HGNC
Official Full Name
lectin, mannose-binding, 1provided by HGNC
Primary source
HGNC:6631
See related
Ensembl:ENSG00000074695; HPRD:03338; MIM:601567; Vega:OTTHUMG00000132758
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 type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq, Jul 2008]
See LMAN1 in Epigenomics, MapViewer
Location:
18q21.3-q22
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (59327823..59359276, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56995055..57026508, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene retina and anterior neural fold homeobox Neighboring gene complexin 4 Neighboring gene collagen and calcium binding EGF domains 1 Neighboring gene actin, beta pseudogene 3 Neighboring gene ribosomal protein S26 pseudogene 54

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mannose binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
PubMed 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
NOT early endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of organelle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein N-linked glycosylation via asparagine TAS
Traceable Author Statement
more info
 
NOT protein exit from endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein ERGIC-53
Names
protein ERGIC-53
intracellular mannose specific lectin
intracellular mannose-specific lectin MR60
ER-Golgi intermediate compartment 53 kDa protein
endoplasmic reticulum-golgi intermediate compartment protein 53

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 

    Range
    5001..36454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005570.3NP_005561.1  protein ERGIC-53 precursor

    See proteins identical to NP_005561.1

    Status: REVIEWED

    Source sequence(s)
    AC016229, AC067859, AI280513, AK025773, BC032330, DC308886, U09716
    Consensus CDS
    CCDS11974.1
    UniProtKB/Swiss-Prot
    P49257
    Related
    ENSP00000251047, OTTHUMP00000163644, ENST00000251047, OTTHUMT00000256129
    Conserved Domains (2) summary
    cd06902
    Location:44268
    Blast Score: 1259
    lectin_ERGIC-53_ERGL; ERGIC-53 and ERGL type 1 transmembrane proteins, N-terminal lectin domain
    cl19113
    Location:340415
    Blast Score: 83
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    59327823..59359276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    53704319..53735757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

    Range
    56990302..57021756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)