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Aliases for LMAN1 Gene

Aliases for LMAN1 Gene

  • Lectin, Mannose Binding 1 2 3
  • Lectin, Mannose-Binding, 1 2 3 5
  • 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
  • ERGIC53 3 4
  • F5F8D 3 4
  • Gp58 3 4
  • Coagulation Factor V-Factor VIII Combined Deficiency 2
  • Lectin Mannose-Binding 1 4
  • ERGIC-53 3
  • FMFD1 3
  • MCFD1 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 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]

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 Transport to the Golgi and subsequent modification and Vesicle-mediated transport. 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

Promoters for LMAN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LMAN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LMAN1 Gene

Chromosome:
18
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

Genes around LMAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 346 and Lys 372
  • Glycosylation at Thr 276, Thr 385, Ser 425, Thr 432, and Thr 433
  • Modification sites at PhosphoSitePlus

Other Protein References for LMAN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LMAN1 (LMAN1)

No data available for DME Specific Peptides for LMAN1 Gene

Domains & Families for LMAN1 Gene

Protein Domains for LMAN1 Gene

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 :
  • 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.
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:0005537 mannose binding IEA,TAS --
genes like me logo Genes that share ontologies with LMAN1: view
genes like me logo Genes that share phenotypes with LMAN1: view

Human Phenotype Ontology for LMAN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMAN1 Gene

MGI Knock Outs for LMAN1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
golgi apparatus 5
cytosol 3
peroxisome 2
plasma membrane 2
cytoskeleton 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LMAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA,IDA 15308636
GO:0016020 membrane IEA,IDA 19946888
GO:0030134 ER to Golgi transport vesicle IEA --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS --
genes like me logo Genes that share ontologies with LMAN1: view

Pathways & Interactions 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:0007029 endoplasmic reticulum organization IEA --
GO:0007596 blood coagulation TAS 9546392
GO:0010638 positive regulation of organelle organization IMP 18287528
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with LMAN1: view

No data available for SIGNOR curated interactions for LMAN1 Gene

Drugs & Compounds for LMAN1 Gene

(3) Drugs for LMAN1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic Factor Approved, Investigational Pharma Target, chaperone 0

(3) Additional Compounds for LMAN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for LMAN1 Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for LMAN1 Gene

This gene is overexpressed in Nasal epithelium (26.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with LMAN1: view

Protein tissue co-expression partners for LMAN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for LMAN1 Gene

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 36
  • 99 (a)
OneToOne
LMAN1 35
  • 99.15 (n)
  • 99.22 (a)
cow
(Bos Taurus)
Mammalia LMAN1 35
  • 87.91 (n)
  • 90.2 (a)
LMAN1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMAN1 36
  • 90 (a)
OneToOne
LMAN1 35
  • 90.72 (n)
  • 91.75 (a)
mouse
(Mus musculus)
Mammalia Lman1 16
Lman1 36
  • 88 (a)
OneToOne
Lman1 35
  • 85.85 (n)
  • 89 (a)
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 36
  • 66 (a)
OneToOne
lman1 35
  • 68.84 (n)
  • 71.16 (a)
wufc54c09 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005404 35
  • 51.78 (n)
  • 46.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta ergic53 36
  • 40 (a)
OneToMany
rhea 37
  • 39 (a)
ergic53 35
  • 51.52 (n)
  • 43 (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

(3) 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
rs1043302 - 59,359,204(-) AGTTC(A/G)GCCGC reference, missense
rs33926449 - 59,359,129(+) ACGCG(A/G)CCGCG reference, missense
rs2298711 - 59,333,237(-) ATTCC(A/T)TGAGT reference, missense
rs3737392 - 59,338,845(+) CAAGA(A/G)TCATA reference, missense
VAR_071969 Factor V and factor VIII combined deficiency 1 (F5F8D1)

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

Variant ID Type Subtype PubMed ID
nsv522853 CNV Loss 19592680

Variation tolerance for LMAN1 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.60% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for LMAN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined factor v and viii deficiency
  • factor v and factor viii, combined deficiency of
factor v and factor viii, combined deficiency of
  • combined deficiency of factor v and factor viii
factor viii deficiency
  • congenital factor viii disorder
bleeding disorder, platelet-type, 15
  • bleeding disorder, platelet-type 15
hemophilia
  • hemophilia, familial
- elite association - COSMIC cancer census association via MalaCards
Search LMAN1 in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMAN1
genes like me logo Genes that share disorders with LMAN1: view

Publications for LMAN1 Gene

  1. 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 67
  2. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. (PMID: 14629470) Cunningham M.A. … Kaufman R.J. (J. Thromb. Haemost. 2003) 3 23 25
  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. Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. (PMID: 20138881) Wigren E. … Lindqvist Y. (FEBS Lett. 2010) 3 23
  5. EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII. (PMID: 20007547) Zheng C. … Zhang B. (Blood 2010) 3 23

Products for LMAN1 Gene

Sources for LMAN1 Gene

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