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MAN1A1 (mannosidase alpha class 1A member 1)

Identity

Alias_namesmannosidase
Other aliasHUMM3
HUMM9
MAN9
HGNC (Hugo) MAN1A1
LocusID (NCBI) 4121
Atlas_Id 54440
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 119177201 and ends at 119349766 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MAN1A1 (6q22.31) / ARHGAP18 (6q22.33)MAN1A1 (6q22.31) / LCOR (10q24.1)MAN1A1 (6q22.31) / MAN1A1 (6q22.31)
MAN1A1 (6q22.31) / MYB (6q23.3)MAN1A1 (6q22.31) / PDSS2 (6q21)NFIB (9p23) / MAN1A1 (6q22.31)
TEK (9p21.2) / MAN1A1 (6q22.31)MAN1A1 6q22.31 / ARHGAP18 6q22.33MAN1A1 6q22.31 / LCOR 10q24.1
MAN1A1 6q22.31 / PDSS2 6q21

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  del(6)(q22q23) MAN1A1/MYB
t(6;6)(q21;q22) MAN1A1/PDSS2
MAN1A1/ARHGAP18 (6q22)
t(6;9)(q22;p22) NFIB/MAN1A1
t(6;10)(q22;q24) MAN1A1/LCOR


External links

Nomenclature
HGNC (Hugo)MAN1A1   6821
Cards
Entrez_Gene (NCBI)MAN1A1  4121  mannosidase alpha class 1A member 1
AliasesHUMM3; HUMM9; MAN9
GeneCards (Weizmann)MAN1A1
Ensembl hg19 (Hinxton)ENSG00000111885 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111885 [Gene_View]  ENSG00000111885 [Sequence]  chr6:119177201-119349766 [Contig_View]  MAN1A1 [Vega]
ICGC DataPortalENSG00000111885
TCGA cBioPortalMAN1A1
AceView (NCBI)MAN1A1
Genatlas (Paris)MAN1A1
WikiGenes4121
SOURCE (Princeton)MAN1A1
Genetics Home Reference (NIH)MAN1A1
Genomic and cartography
GoldenPath hg38 (UCSC)MAN1A1  -     chr6:119177201-119349766 -  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAN1A1  -     6q22.31   [Description]    (hg19-Feb_2009)
EnsemblMAN1A1 - 6q22.31 [CytoView hg19]  MAN1A1 - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBIMAN1A1 [Mapview hg19]  MAN1A1 [Mapview hg38]
OMIM604344   
Gene and transcription
Genbank (Entrez)AK024588 AK025599 AK307383 BC065827 BQ008013
RefSeq transcript (Entrez)NM_005907
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAN1A1
Cluster EST : UnigeneHs.742378 [ NCBI ]
CGAP (NCI)Hs.742378
Alternative Splicing GalleryENSG00000111885
Gene ExpressionMAN1A1 [ NCBI-GEO ]   MAN1A1 [ EBI - ARRAY_EXPRESS ]   MAN1A1 [ SEEK ]   MAN1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAN1A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4121
GTEX Portal (Tissue expression)MAN1A1
Human Protein AtlasENSG00000111885-MAN1A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP33908   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP33908  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP33908
Splice isoforms : SwissVarP33908
PhosPhoSitePlusP33908
Domains : Interpro (EBI)6hp_glycosidase-like_sf    Glyco_hydro_47    Seven-hairpin_glycosidases   
Domain families : Pfam (Sanger)Glyco_hydro_47 (PF01532)   
Domain families : Pfam (NCBI)pfam01532   
Conserved Domain (NCBI)MAN1A1
DMDM Disease mutations4121
Blocks (Seattle)MAN1A1
SuperfamilyP33908
Human Protein Atlas [tissue]ENSG00000111885-MAN1A1 [tissue]
Peptide AtlasP33908
HPRD05066
IPIIPI00844511   IPI00439446   
Protein Interaction databases
DIP (DOE-UCLA)P33908
IntAct (EBI)P33908
FunCoupENSG00000111885
BioGRIDMAN1A1
STRING (EMBL)MAN1A1
ZODIACMAN1A1
Ontologies - Pathways
QuickGOP33908
Ontology : AmiGOGolgi membrane  Golgi membrane  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  calcium ion binding  endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  cytosol  protein glycosylation  N-glycan processing  mannosidase activity  membrane  integral component of membrane  extracellular exosome  Golgi apparatus mannose trimming  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  calcium ion binding  endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  cytosol  protein glycosylation  N-glycan processing  mannosidase activity  membrane  integral component of membrane  extracellular exosome  Golgi apparatus mannose trimming  
Pathways : KEGGN-Glycan biosynthesis    Protein processing in endoplasmic reticulum   
NDEx NetworkMAN1A1
Atlas of Cancer Signalling NetworkMAN1A1
Wikipedia pathwaysMAN1A1
Orthology - Evolution
OrthoDB4121
GeneTree (enSembl)ENSG00000111885
Phylogenetic Trees/Animal Genes : TreeFamMAN1A1
HOVERGENP33908
HOGENOMP33908
Homologs : HomoloGeneMAN1A1
Homology/Alignments : Family Browser (UCSC)MAN1A1
Gene fusions - Rearrangements
Fusion : MitelmanMAN1A1/ARHGAP18 [6q22.31/6q22.33]  
Fusion : MitelmanMAN1A1/LCOR [6q22.31/10q24.1]  [t(6;10)(q22;q24)]  
Fusion : MitelmanMAN1A1/MYB [6q22.31/6q23.3]  [del(6)(q22q23)]  
Fusion : MitelmanMAN1A1/PDSS2 [6q22.31/6q21]  [t(6;6)(q21;q22)]  
Fusion : MitelmanNFIB/MAN1A1 [9p23/6q22.31]  [t(6;9)(q22;p22)]  
Fusion PortalMAN1A1 6q22.31 ARHGAP18 6q22.33 BRCA
Fusion PortalMAN1A1 6q22.31 LCOR 10q24.1 BRCA
Fusion PortalMAN1A1 6q22.31 PDSS2 6q21 BRCA
Fusion : QuiverMAN1A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAN1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAN1A1
dbVarMAN1A1
ClinVarMAN1A1
1000_GenomesMAN1A1 
Exome Variant ServerMAN1A1
ExAC (Exome Aggregation Consortium)ENSG00000111885
GNOMAD BrowserENSG00000111885
Varsome BrowserMAN1A1
Genetic variants : HAPMAP4121
Genomic Variants (DGV)MAN1A1 [DGVbeta]
DECIPHERMAN1A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAN1A1 
Mutations
ICGC Data PortalMAN1A1 
TCGA Data PortalMAN1A1 
Broad Tumor PortalMAN1A1
OASIS PortalMAN1A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAN1A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAN1A1
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 MAN1A1
DgiDB (Drug Gene Interaction Database)MAN1A1
DoCM (Curated mutations)MAN1A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAN1A1 (select a term)
intoGenMAN1A1
Cancer3DMAN1A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604344   
Orphanet
DisGeNETMAN1A1
MedgenMAN1A1
Genetic Testing Registry MAN1A1
NextProtP33908 [Medical]
TSGene4121
GENETestsMAN1A1
Target ValidationMAN1A1
Huge Navigator MAN1A1 [HugePedia]
snp3D : Map Gene to Disease4121
BioCentury BCIQMAN1A1
ClinGenMAN1A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4121
Chemical/Pharm GKB GenePA30570
Clinical trialMAN1A1
Miscellaneous
canSAR (ICR)MAN1A1 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAN1A1
EVEXMAN1A1
GoPubMedMAN1A1
iHOPMAN1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:18:38 CET 2018

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