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Aliases for LMAN1 Gene

Aliases for LMAN1 Gene

  • 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 2
  • Lectin Mannose-Binding 1 4
  • Protein ERGIC-53 3
  • 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 Factor V And Factor Viii, Combined Deficiency Of, 1 and Factor V And Factor Viii, Combined Deficiency Of, 2. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and mannose binding. An important paralog of this gene is LMAN1L.

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

Additional gene information for LMAN1 Gene

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

Genomics for LMAN1 Gene

GeneHancer (GH) Regulatory Elements for LMAN1 Gene

Promoters and enhancers for LMAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I059357 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.5 1452 3 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF213 ZNF143 FOS LMAN1 ZNF532 CPLX4
GH18I059415 Enhancer 0.6 ENCODE 10.4 -56.2 -56245 1.8 AFF1 USF1 HCFC1 TAL1 CBFA2T3 SIX5 USF2 ZNF354B ETS1 MITF LMAN1 GC18M059402 ENSG00000267677
GH18I059453 Enhancer 0.9 ENCODE 6.9 -93.7 -93722 0.1 FOXA2 MLX ARID4B FEZF1 ATF7 RXRA SP5 MXD4 MIER2 PPARG LMAN1 ENSG00000267000 GC18M059402 CCBE1
GH18I059389 Enhancer 0.4 ENCODE 6.5 -29.8 -29847 0.6 POLR2A ZSCAN4 LMAN1 MC4R ENSG00000267677 GC18M059402
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LMAN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LMAN1 gene promoter:

Genomic Locations for LMAN1 Gene

Genomic Locations for LMAN1 Gene
chr18:59,327,823-59,359,962
(GRCh38/hg38)
Size:
32,140 bases
Orientation:
Minus strand
chr18:56,995,055-57,027,194
(GRCh37/hg19)

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. Interacts with RAB3GAP1 and RAB3GAP2 (PubMed:22337587). Interacts with UBXN6 (PubMed:22337587).

    Three dimensional structures from OCA and Proteopedia for LMAN1 Gene

neXtProt entry for LMAN1 Gene

Post-translational modifications for LMAN1 Gene

  • The N-terminal may be partly blocked.
  • Ubiquitination at isoforms=346 and isoforms=372
  • Glycosylation at isoforms=276, isoforms=385, isoforms=425, isoforms=432, and posLast=433433
  • Modification sites at PhosphoSitePlus

Other Protein References for LMAN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LMAN1 Gene

Domains & Families for LMAN1 Gene

Gene Families for LMAN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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.
genes like me logo Genes that share domains with LMAN1: view

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 9774442
GO:0005537 mannose binding TAS,IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051082 unfolded protein binding TAS 9546392
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:

Clone Products

  • Addgene plasmids for LMAN1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMAN1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
plasma membrane 2
peroxisome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LMAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA,IEA 15308636
GO:0005794 Golgi apparatus IEA --
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:0006457 protein folding TAS 9546392
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007029 endoplasmic reticulum organization IEA --
GO:0007030 Golgi organization IMP 18287528
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

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

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

(2) 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:

Clone Products

  • Addgene plasmids for LMAN1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LMAN1 Gene



Protein tissue co-expression partners for LMAN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMAN1 Gene:

LMAN1

SOURCE GeneReport for Unigene cluster for LMAN1 Gene:

Hs.465295

mRNA Expression by UniProt/SwissProt for LMAN1 Gene:

P49257-LMAN1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for LMAN1 Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Blood(4.5)
  • Kidney(2.7)
  • Heart(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMAN1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • reproductive
Regions:
Head and neck:
  • face
  • head
  • nose
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with LMAN1: view

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 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia LMAN1 33 34
  • 90.72 (n)
cow
(Bos Taurus)
Mammalia LMAN1 33 34
  • 87.91 (n)
mouse
(Mus musculus)
Mammalia Lman1 33 16 34
  • 85.85 (n)
rat
(Rattus norvegicus)
Mammalia Lman1 33
  • 85.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LMAN1 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LMAN1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMAN1 33 34
  • 77.8 (n)
lizard
(Anolis carolinensis)
Reptilia LMAN1 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lman1 33
  • 68.65 (n)
Str.11828 33
African clawed frog
(Xenopus laevis)
Amphibia lman1-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii lman1 33 34
  • 68.84 (n)
wufc54c09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3450 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005404 33
  • 51.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta ergic53 33 34
  • 51.52 (n)
rhea 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea ile-1 33 34
  • 50.04 (n)
K07A1.8 35
  • 37 (a)
Species where no ortholog for LMAN1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1017314593 uncertain-significance, Combined deficiency of factor V and factor VIII, 1 59,328,834(-) T/A 3_prime_UTR_variant
rs1043302 likely-benign, Combined deficiency of factor V and factor VIII, 1 59,359,204(-) C/T coding_sequence_variant, missense_variant
rs1043334 likely-benign, Combined deficiency of factor V and factor VIII, 1 59,329,294(-) T/G 3_prime_UTR_variant
rs1127220 benign, likely-benign, not specified, Combined deficiency of factor V and factor VIII, 1 59,355,522(-) T/C/G coding_sequence_variant, synonymous_variant
rs117480907 likely-benign, Combined deficiency of factor V and factor VIII, 1 59,330,603(-) G/A 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
nsv522853 CNV loss 19592680
nsv577051 CNV loss 21841781

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)

Additional Variant Information for LMAN1 Gene

Human Gene Mutation Database (HGMD)
LMAN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMAN1

SNP Genotyping and Copy Number Assay Products

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

Disorders for LMAN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LMAN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor v and factor viii, combined deficiency of, 1
  • f5f8d1
factor v and factor viii, combined deficiency of, 2
  • f5f8d2
factor viii deficiency
  • autosomal hemophilia a
hemophilia
  • hemophilia, familial
bladder papillary transitional cell neoplasm
  • urinary bladder papillary urothelial neoplasm
- 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

Additional Disease Information for LMAN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LMAN1: view

Publications for LMAN1 Gene

  1. 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 letters 2010) 3 4 22 58
  2. 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 coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2004) 3 22 44 58
  3. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (PMID: 10090935) Nichols WC … Seligsohn U (Blood 1999) 3 4 22 58
  4. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. (PMID: 9546392) Nichols WC … Ginsburg D (Cell 1998) 2 3 22 58
  5. 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 AC (The Journal of biological chemistry 1995) 3 4 22 58

Products for LMAN1 Gene

  • Addgene plasmids for LMAN1

Sources for LMAN1 Gene

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