Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

LMAN1 (lectin, mannose binding 1)

Identity

Alias_namesF5F8D
coagulation factor V-factor VIII combined deficiency
lectin, mannose-binding, 1
Alias_symbol (synonym)MR60
ERGIC-53
ERGIC53
gp58
MCFD1
FMFD1
Other alias
HGNC (Hugo) LMAN1
LocusID (NCBI) 3998
Atlas_Id 50158
Location 18q21.32  [Link to chromosome band 18q21]
Location_base_pair Starts at 56995056 and ends at 57026508 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LMAN1 (18q21.32) / KLF6 (10p15.1)cytochrome_b () / LMAN1 (18q21.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LMAN1   6631
LRG (Locus Reference Genomic)LRG_595
Cards
Entrez_Gene (NCBI)LMAN1  3998  lectin, mannose binding 1
AliasesERGIC-53; ERGIC53; F5F8D; FMFD1; 
MCFD1; MR60; gp58
GeneCards (Weizmann)LMAN1
Ensembl hg19 (Hinxton)ENSG00000074695 [Gene_View]  chr18:56995056-57026508 [Contig_View]  LMAN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000074695 [Gene_View]  chr18:56995056-57026508 [Contig_View]  LMAN1 [Vega]
ICGC DataPortalENSG00000074695
TCGA cBioPortalLMAN1
AceView (NCBI)LMAN1
Genatlas (Paris)LMAN1
WikiGenes3998
SOURCE (Princeton)LMAN1
Genetics Home Reference (NIH)LMAN1
Genomic and cartography
GoldenPath hg19 (UCSC)LMAN1  -     chr18:56995056-57026508 -  18q21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LMAN1  -     18q21.32   [Description]    (hg38-Dec_2013)
EnsemblLMAN1 - 18q21.32 [CytoView hg19]  LMAN1 - 18q21.32 [CytoView hg38]
Mapping of homologs : NCBILMAN1 [Mapview hg19]  LMAN1 [Mapview hg38]
OMIM227300   601567   
Gene and transcription
Genbank (Entrez)AI280513 AK025773 AK223208 AK225108 AK225111
RefSeq transcript (Entrez)NM_005570
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_012097 NT_010966 NW_004929411
Consensus coding sequences : CCDS (NCBI)LMAN1
Cluster EST : UnigeneHs.465295 [ NCBI ]
CGAP (NCI)Hs.465295
Alternative Splicing GalleryENSG00000074695
Gene ExpressionLMAN1 [ NCBI-GEO ]   LMAN1 [ EBI - ARRAY_EXPRESS ]   LMAN1 [ SEEK ]   LMAN1 [ MEM ]
Gene Expression Viewer (FireBrowse)LMAN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3998
GTEX Portal (Tissue expression)LMAN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49257   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49257  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49257
Splice isoforms : SwissVarP49257
PhosPhoSitePlusP49257
Domaine pattern : Prosite (Expaxy)L_LECTIN_LIKE (PS51328)   
Domains : Interpro (EBI)ConA-like_dom    Lectin_leg   
Domain families : Pfam (Sanger)Lectin_leg-like (PF03388)   
Domain families : Pfam (NCBI)pfam03388   
Conserved Domain (NCBI)LMAN1
DMDM Disease mutations3998
Blocks (Seattle)LMAN1
PDB (SRS)3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
PDB (PDBSum)3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
PDB (IMB)3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
PDB (RSDB)3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
Structural Biology KnowledgeBase3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
SCOP (Structural Classification of Proteins)3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
CATH (Classification of proteins structures)3A4U    3LCP    3WHT    3WHU    3WNX    4GKX    4GKY   
SuperfamilyP49257
Human Protein AtlasENSG00000074695
Peptide AtlasP49257
HPRD03338
IPIIPI00026530   
Protein Interaction databases
DIP (DOE-UCLA)P49257
IntAct (EBI)P49257
FunCoupENSG00000074695
BioGRIDLMAN1
STRING (EMBL)LMAN1
ZODIACLMAN1
Ontologies - Pathways
QuickGOP49257
Ontology : AmiGOGolgi membrane  protein binding  mannose binding  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  protein folding  ER to Golgi vesicle-mediated transport  endoplasmic reticulum organization  Golgi organization  blood coagulation  positive regulation of organelle organization  ER to Golgi transport vesicle membrane  membrane  integral component of membrane  protein N-linked glycosylation via asparagine  sarcomere  protein exit from endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment membrane  early endosome to Golgi transport  host cell perinuclear region of cytoplasm  metal ion binding  COPII vesicle coating  unfolded protein binding  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  protein binding  mannose binding  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  protein folding  ER to Golgi vesicle-mediated transport  endoplasmic reticulum organization  Golgi organization  blood coagulation  positive regulation of organelle organization  ER to Golgi transport vesicle membrane  membrane  integral component of membrane  protein N-linked glycosylation via asparagine  sarcomere  protein exit from endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment membrane  early endosome to Golgi transport  host cell perinuclear region of cytoplasm  metal ion binding  COPII vesicle coating  unfolded protein binding  extracellular exosome  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkLMAN1
Atlas of Cancer Signalling NetworkLMAN1
Wikipedia pathwaysLMAN1
Orthology - Evolution
OrthoDB3998
GeneTree (enSembl)ENSG00000074695
Phylogenetic Trees/Animal Genes : TreeFamLMAN1
HOVERGENP49257
HOGENOMP49257
Homologs : HomoloGeneLMAN1
Homology/Alignments : Family Browser (UCSC)LMAN1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)cytochrome_b [LMAN1]  -  18q21.32 [FUSC000523]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLMAN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LMAN1
dbVarLMAN1
ClinVarLMAN1
1000_GenomesLMAN1 
Exome Variant ServerLMAN1
ExAC (Exome Aggregation Consortium)LMAN1 (select the gene name)
Genetic variants : HAPMAP3998
Genomic Variants (DGV)LMAN1 [DGVbeta]
DECIPHER (Syndromes)18:56995056-57026508  ENSG00000074695
CONAN: Copy Number AnalysisLMAN1 
Mutations
ICGC Data PortalLMAN1 
TCGA Data PortalLMAN1 
Broad Tumor PortalLMAN1
OASIS PortalLMAN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLMAN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLMAN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LMAN1
DgiDB (Drug Gene Interaction Database)LMAN1
DoCM (Curated mutations)LMAN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LMAN1 (select a term)
intoGenLMAN1
Cancer3DLMAN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM227300    601567   
Orphanet10405   
MedgenLMAN1
Genetic Testing Registry LMAN1
NextProtP49257 [Medical]
TSGene3998
GENETestsLMAN1
Huge Navigator LMAN1 [HugePedia]
snp3D : Map Gene to Disease3998
BioCentury BCIQLMAN1
ClinGenLMAN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3998
Chemical/Pharm GKB GenePA30399
Clinical trialLMAN1
Miscellaneous
canSAR (ICR)LMAN1 (select the gene name)
Probes
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLMAN1
EVEXLMAN1
GoPubMedLMAN1
iHOPLMAN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:13:01 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.