ENSG00000074695


Homo sapiens

Features
Gene ID: ENSG00000074695
  
Biological name :LMAN1
  
Synonyms : lectin, mannose binding 1 / LMAN1 / P49257
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.32
Gene start: 59327823
Gene end: 59359962
  
Corresponding Affymetrix probe sets: 203293_s_at (Human Genome U133 Plus 2.0 Array)   203294_s_at (Human Genome U133 Plus 2.0 Array)   224629_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000251047
NCBI entrez gene - 3998     See in Manteia.
OMIM - 601567
RefSeq - NM_005570
RefSeq Peptide - NP_005561
swissprot - A0A024R2A7
swissprot - P49257
Ensembl - ENSG00000074695
  
Related genetic diseases (OMIM): 227300 - Combined factor V and VIII deficiency, 227300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lman1ENSDARG00000069980Danio rerio
 LMAN1ENSGALG00000034821Gallus gallus
 Lman1ENSMUSG00000041891Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LMAN1L / Q9HAT1 / lectin, mannose binding 1 likeENSG0000014050634
LMAN2L / Q9H0V9 / lectin, mannose binding 2 likeENSG0000011498820
LMAN2 / Q12907 / lectin, mannose binding 2ENSG0000016922319


Protein motifs (from Interpro)
Interpro ID Name
 IPR005052  Legume-like lectin
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR033085  Protein ERGIC-53


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007029 endoplasmic reticulum organization IEA
 biological_processGO:0007030 Golgi organization IMP
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0010638 positive regulation of organelle organization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0018279 protein N-linked glycosylation via asparagine TAS
 biological_processGO:0048208 COPII vesicle coating TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0030017 sarcomere IEA
 cellular_componentGO:0030134 COPII-coated ER to Golgi transport vesicle IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA
 cellular_componentGO:0044220 host cell perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005537 mannose binding TAS
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051082 unfolded protein binding TAS


Pathways (from Reactome)
Pathway description
COPII-mediated vesicle transport
Cargo concentration in the ER
Transport to the Golgi and subsequent modification


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
Show

 HP:0003125 Factor VIII deficiency 
Show

 HP:0003225 Factor V deficiency 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101160 CTSZ / Q9UBR2 / cathepsin Z  / complex / reaction
 ENSG00000109861 CTSC / P53634 / cathepsin C  / complex / reaction
 ENSG00000180398 MCFD2 / Q8NI22 / multiple coagulation factor deficiency 2  / complex
 ENSG00000185010 F8 / P00451 / coagulation factor VIII  / reaction / complex
 ENSG00000074695 LMAN1 / P49257 / lectin, mannose binding 1  / complex
 ENSG00000198734 F5 / P12259 / coagulation factor V  / reaction / complex
 ENSG00000197249 P01009 / SERPINA1 / serpin family A member 1  / reaction / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr