Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LMAN1 Gene

Aliases for LMAN1 Gene

  • Lectin, Mannose-Binding, 1 2 3
  • ERGIC53 3 4 6
  • F5F8D 3 4 6
  • Endoplasmic Reticulum-Golgi Intermediate Compartment Protein 53 2 3
  • ER-Golgi Intermediate Compartment 53 KDa Protein 3 4
  • Intracellular Mannose-Specific Lectin MR60 3 4
  • MCFD1 3 6
  • Gp58 3 4
  • Coagulation Factor V-Factor VIII Combined Deficiency 2
  • Intracellular Mannose Specific Lectin 3
  • Lectin Mannose-Binding 1 4
  • Protein ERGIC-53 3
  • ERGIC-53 3
  • FMFD1 3
  • MR60 3

External Ids for LMAN1 Gene

Previous HGNC Symbols for LMAN1 Gene

  • F5F8D

Previous GeneCards Identifiers for LMAN1 Gene

  • GC18M056829
  • GC18M056969
  • GC18M055146
  • GC18M055148
  • GC18M053704

Summaries for LMAN1 Gene

Entrez Gene Summary for LMAN1 Gene

  • 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]

GeneCards Summary for LMAN1 Gene

LMAN1 (Lectin, Mannose-Binding, 1) is a Protein Coding gene. Diseases associated with LMAN1 include combined factor v and viii deficiency and factor v and factor viii, combined deficiency of. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include unfolded protein binding and mannose binding. An important paralog of this gene is LMAN2.

UniProtKB/Swiss-Prot for LMAN1 Gene

  • Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.

Gene Wiki entry for LMAN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMAN1 Gene

Genomics for LMAN1 Gene

Regulatory Elements for LMAN1 Gene

Genomic Location for LMAN1 Gene

Start:
59,327,823 bp from pter
End:
59,359,962 bp from pter
Size:
32,140 bases
Orientation:
Minus strand

Genomic View for LMAN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LMAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMAN1 Gene

Proteins for LMAN1 Gene

  • Protein details for LMAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49257-LMAN1_HUMAN
    Recommended name:
    Protein ERGIC-53
    Protein Accession:
    P49257
    Secondary Accessions:
    • Q12895
    • Q8N5I7
    • Q9UQG1
    • Q9UQG2
    • Q9UQG3
    • Q9UQG4
    • Q9UQG5
    • Q9UQG6
    • Q9UQG7
    • Q9UQG8
    • Q9UQG9
    • Q9UQH0
    • Q9UQH1
    • Q9UQH2

    Protein attributes for LMAN1 Gene

    Size:
    510 amino acids
    Molecular mass:
    57549 Da
    Quaternary structure:
    • Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers non-covalently kept together. Interacts with MCFD2. May interact with TMEM115.

    Three dimensional structures from OCA and Proteopedia for LMAN1 Gene

neXtProt entry for LMAN1 Gene

Proteomics data for LMAN1 Gene at MOPED

Post-translational modifications for LMAN1 Gene

  • The N-terminal may be partly blocked
  • Ubiquitination at Lys346 and Lys372
  • Glycosylation at Thr276, Thr385, Ser425, Thr432, and Thr433
  • Modification sites at PhosphoSitePlus

Other Protein References for LMAN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LMAN1 Gene

Domains for LMAN1 Gene

Protein Domains for LMAN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LMAN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49257

UniProtKB/Swiss-Prot:

LMAN1_HUMAN :
  • P49257
Domain:
  • The FF ER export motif at the C-terminus is not sufficient to support endoplasmic reticulum exit, and needs assistance of Gln-501 for proper recognition of COPII coat components
  • Contains 1 L-type lectin-like domain.
genes like me logo Genes that share domains with LMAN1: view

No data available for Gene Families for LMAN1 Gene

Function for LMAN1 Gene

Molecular function for LMAN1 Gene

GENATLAS Biochemistry: intracellular mannose specific lectin,with homology to galectin,involved in the transport of early processed glycoprotein from endoplasmic reticulum to Golgi
UniProtKB/Swiss-Prot Function: Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.

Gene Ontology (GO) - Molecular Function for LMAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17805346
GO:0005537 mannose binding TAS 7876089
GO:0046872 metal ion binding IEA --
GO:0051082 unfolded protein binding TAS 9546392
genes like me logo Genes that share ontologies with LMAN1: view

Phenotypes for LMAN1 Gene

genes like me logo Genes that share phenotypes with LMAN1: view

miRNA for LMAN1 Gene

miRTarBase miRNAs that target LMAN1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for LMAN1 Gene

Localization for LMAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMAN1 Gene

Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LMAN1 Gene COMPARTMENTS Subcellular localization image for LMAN1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
peroxisome 2
plasma membrane 2
cytoskeleton 1
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LMAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005794 Golgi apparatus --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with LMAN1: view

Pathways for LMAN1 Gene

genes like me logo Genes that share pathways with LMAN1: view

Gene Ontology (GO) - Biological Process for LMAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 9546392
GO:0006888 ER to Golgi vesicle-mediated transport TAS 9546392
GO:0007029 endoplasmic reticulum organization IEA --
GO:0007030 Golgi organization IMP 18287528
GO:0007596 blood coagulation TAS 9546392
genes like me logo Genes that share ontologies with LMAN1: view

Compounds for LMAN1 Gene

(1) Drugbank Compounds for LMAN1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Antihemophilic Factor
  • AHF
target chaperone

(5) Novoseek inferred chemical compound relationships for LMAN1 Gene

Compound -log(P) Hits PubMed IDs
mannose 49.8 9
asparagine 35.4 1
polysaccharide 26.4 1
lysine 2.57 2
glucose 0 1
genes like me logo Genes that share compounds with LMAN1: view

Transcripts for LMAN1 Gene

Unigene Clusters for LMAN1 Gene

Lectin, mannose-binding, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LMAN1 Gene

No ASD Table

Relevant External Links for LMAN1 Gene

GeneLoc Exon Structure for
LMAN1
ECgene alternative splicing isoforms for
LMAN1

Expression for LMAN1 Gene

mRNA expression in normal human tissues for LMAN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LMAN1 Gene

This gene is overexpressed in Liver (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LMAN1 Gene

SOURCE GeneReport for Unigene cluster for LMAN1 Gene Hs.465295

mRNA Expression by UniProt/SwissProt for LMAN1 Gene

P49257-LMAN1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with LMAN1: view

Orthologs for LMAN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMAN1 35
  • 99.15 (n)
  • 99.22 (a)
LMAN1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LMAN1 35
  • 87.91 (n)
  • 90.2 (a)
LMAN1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMAN1 35
  • 90.72 (n)
  • 91.75 (a)
LMAN1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lman1 35
  • 85.85 (n)
  • 89 (a)
Lman1 16
Lman1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LMAN1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMAN1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lman1 35
  • 85.4 (n)
  • 89.19 (a)
chicken
(Gallus gallus)
Aves LMAN1 35
  • 77.8 (n)
  • 81.29 (a)
LMAN1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMAN1 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia lman1-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lman1 35
  • 68.65 (n)
  • 71.66 (a)
Str.11828 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3450 35
zebrafish
(Danio rerio)
Actinopterygii lman1 35
  • 68.84 (n)
  • 71.16 (a)
lman1 36
  • 66 (a)
OneToOne
wufc54c09 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005404 35
  • 51.78 (n)
  • 46.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta ergic53 35
  • 51.52 (n)
  • 43 (a)
ergic53 36
  • 40 (a)
OneToMany
rhea 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea ile-1 35
  • 50.04 (n)
  • 41.02 (a)
ile-1 36
  • 37 (a)
OneToMany
K07A1.8 37
  • 37 (a)
Species with no ortholog for LMAN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMAN1 Gene

ENSEMBL:
Gene Tree for LMAN1 (if available)
TreeFam:
Gene Tree for LMAN1 (if available)

Paralogs for LMAN1 Gene

Paralogs for LMAN1 Gene

Selected SIMAP similar genes for LMAN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LMAN1: view

Variants for LMAN1 Gene

Sequence variations from dbSNP and Humsavar for LMAN1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs4806 -- 59,328,164(-) AATTT(C/T)TGTAA utr-variant-3-prime
rs1043302 - 59,359,204(-) AGTTC(A/G)GCCGC missense, reference
rs1043319 -- 59,330,478(-) ATTTT(A/G)GAGGA utr-variant-3-prime
rs1043320 -- 59,330,334(-) GGGGT(A/C)AGGTC utr-variant-3-prime
rs1043324 -- 59,330,116(-) AGTAG(A/G)AGCAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LMAN1 Gene

Variant ID Type Subtype PubMed ID
nsv522853 CNV Loss 19592680

Relevant External Links for LMAN1 Gene

HapMap Linkage Disequilibrium report
LMAN1
Human Gene Mutation Database (HGMD)
LMAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMAN1 Gene

Disorders for LMAN1 Gene

(1) OMIM Diseases for LMAN1 Gene (601567)

UniProtKB/Swiss-Prot

LMAN1_HUMAN
  • Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269 PubMed:10090935, ECO:0000269 PubMed:19787799}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for LMAN1 Gene

(6) Novoseek inferred disease relationships for LMAN1 Gene

Disease -log(P) Hits PubMed IDs
f5f8d 98.8 40
coagulation factor deficiency 82.1 4
coagulopathy 70.1 12
hemophilia a 64.6 3
protein deficiency 49.1 2

Genatlas disease for LMAN1 Gene

bleeding diathesis,mild to moderate,with combined factor V/factor VIII deficiency

Relevant External Links for LMAN1

Genetic Association Database (GAD)
LMAN1
Human Genome Epidemiology (HuGE) Navigator
LMAN1
genes like me logo Genes that share disorders with LMAN1: view

Publications for LMAN1 Gene

  1. ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif. (PMID: 8223692) Schindler R. … Hauri H.-P. (Eur. J. Cell Biol. 1993) 3 4 23
  2. ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi intermediate compartment, is identical to MR60, an intracellular mannose-specific lectin of myelomonocytic cells. (PMID: 7876089) Arar C. … Roche A.-C. (J. Biol. Chem. 1995) 3 4 23
  3. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. (PMID: 9546392) Nichols W.C. … Ginsburg D. (Cell 1998) 2 3 23
  4. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (PMID: 10090935) Nichols W.C. … Seligsohn U. (Blood 1999) 3 4 23
  5. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. (PMID: 15166951) Segal A. … Seligsohn U. (Blood Coagul. Fibrinolysis 2004) 3 23 48

Products for LMAN1 Gene

  • Addgene plasmids for LMAN1

Sources for LMAN1 Gene

Back to Top

Content