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FLASH GENE
Symbol LMAN1 contributors: mct/npt/pgu - updated : 11-05-2013
HGNC name lectin, mannose-binding, 1
HGNC id 6631
Corresponding disease
FMFD2 factor V and factor VIII combined deficiency 2
Location 18q21.32      Physical location : 56.995.057 - 57.026.508
Synonym name
  • intracellular mannose specific lectin
  • endoplasmic reticulum-Golgi intermediate compartiment protein 53
  • coagulation factor V-factor VIII combined deficiency
  • Synonym symbol(s) ERGIC53, MR60, MCFD1, FMFD1, ERGIC-53, gp58, F5F8D
    DNA
    TYPE functioning gene
    STRUCTURE 31.45 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure promoter contains a single cis-acting element that mediates induction of the gene by thapsigargin and other ER stress-causing agents
    MAPPING cloned Y linked N status confirmed
    Physical map
    TXNL 18q21.2 thioredoxin-like, 32kDa WDR7 18q21.1-q22 WD repeat domain 7 MGC33608 18q21.31 hypothetical protein MGC33608 SIAT8C 18q21.2 sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase) ONECUT2 18q21.1-q21.2 one cut domain, family member 2 FECH 18q21.2 ferrochelatase (protoporphyria) NARS 18q21.2-q21.3 asparaginyl-tRNA synthetase ATP8B1 18q21 ATPase, Class I, type 8B, member 1 LOC284288 18q21.31 similar to Ribosomal protein L24-like LOC388476 18 similar to Nonhistone chromosomal protein HMG-14 (High-mobility group nucleosome binding domain 1) NEDD4L 18q21.2 neural precursor cell expressed, developmentally down-regulated 4-like HAK 18q21.31-q21.32 heart alpha-kinase MALT1 18q21 mucosa associated lymphoid tissue lymphoma translocation gene 1 FLJ10697 LOC390858 18 similar to RIKEN cDNA 5330437I02 gene LOC388477 18 LOC388477 LOC90701 18q21.32 similar to signal peptidase complex (18kD) GRP 18q21.31 gastrin-releasing peptide RAX 18q21.31 retina and anterior neural fold homeobox CPLX4 18q21.32 complexin 4 LMAN1 18q21.3-q22 lectin, mannose-binding, 1 FLJ30681 18q21.32 KIAA1983 protein LOC219542 18q21.32 similar to 40S ribosomal protein S26 LOC390859 18 similar to Chain A, Crystal Structure Of The R463a Mutant Of Human Glutamate Dehydrogenase LOC390860 18 similar to 60S acidic ribosomal protein P0 (L10E) PMAIP1 18q21.32 phorbol-12-myristate-13-acetate-induced protein 1 LOC147072 18q21.32 similar to nuclear factor (erythroid-derived 2)-like 3; NF-E2-related factor 3 LOC388478 18 similar to serologically defined colon cancer antigen 3 LOC284289 18q21.32 similar to TERA protein LOC388479 18 similar to 40S ribosomal protein S3a LOC342784 18q21.32 similar to TFIIH basal transcription factor complex p62 subunit (Basic transcription factor 62 kDa subunit) (BTF2-p62) (General transcription factor IIH polypeptide 1) MC4R 18q21.32 melanocortin 4 receptor MRPS5P4 18q21 mitochondrial ribosomal protein S5 pseudogene LOC220147 18q21.32 similar to C-terminal binding protein 2 isoform 2; ribeye CDH20 18q22-q23 cadherin 20, type 2 LOC388480 18 LOC388480 RNF152 18q21.33 ring finger protein 152 PIGN 18q21.32 phosphatidylinositol glycan, class N KIAA1468 18q21.33 KIAA1468 TNFRSF11A 18q21.3-q22.1 tumor necrosis factor receptor superfamily, member 11a, activator of NFKB LOC390861 18 similar to FKSG30
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 4848 54.2 510 - 2007 17535801
  • a 30 aa signal peptide of 3.4 kda
  • a 480 aa signal peptide of 54.2 kda
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveesophagus   highly
    Endocrineparathyroid   highly
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one leguminous lectin-like domain
  • a luminal carbohydrate recognition domain (CRD) that binds to high-mannose-type oligosaccharides in a Ca2+-dependent manner
  • mono polymer dimer , hexamer
    HOMOLOGY
    interspecies homolog to murine Lman1
    intraspecies homolog to galectin
    Homologene
    FAMILY
  • family of leguminous type (L-type) lectins
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text type 1 membrane protein
    basic FUNCTION
  • involved in the transport of early processed glycoprotein from endoplasmic reticulum to Golgi
  • may facilitate glycoprotein transport with only low efficiency via its lectin function
  • membrane-bound lectin protein that cycles between the ER and Golgi
  • intracellular transport receptor of SERPINA1
  • LMAN1 and MCFD2 form a Ca(2+)-dependent cargo receptor that cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment for efficient transport of FV/FVIII from the ER to the Golgi
  • glycoprotein receptor, mediating transfer from the ER to the ER-Golgi intermediate compartment
  • with the co-receptor MCFD2, it transports coagulation factors V and VIII
  • central role of LMAN1 in regulating the binding in the ER and the subsequent release in the ERGIC of FV and FVIII
  • LMAN2, LMAN2L, LMAN1, participate in the vectorial transport of glycoproteins via sugar-protein interactions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LMAN2L (overexpression of LMAN2L redistribute LMAN1 to the ER, suggesting interaction and functional interplay between these two lectins)
  • cargo receptor for the LDL receptor-related protein
  • interactions with PDI and TXNDC4 provide a novel, dynamic control of SUMF1 trafficking and enzymatic activity
  • MCFD2 bind both LMAN1 and the blood coagulation factors
  • binding to sugar is enhanced by its interaction with MCFD2, and defects in this interaction in F5F8D patients may be the cause for reduced secretion of factors V and VIII
  • may interact with LMAN2L in the ER, which may regulate the localization of LMAN1 inside cells
  • LMAN1 transports coagulation factors V (F5) and VIII (F8)
  • cell & other
    REGULATION
    induced by stress, tunicamycin and thapsigargin
    ASSOCIATED DISORDERS
    corresponding disease(s) FMFD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS