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PMM1 (phosphomannomutase 1)

Identity

Alias_symbol (synonym)Sec53
Other alias
HGNC (Hugo) PMM1
LocusID (NCBI) 5372
Atlas_Id 72016
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41972890 and ends at 41985871 bp from pter ( according to hg19-Feb_2009)

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)PMM1   9114
Cards
Entrez_Gene (NCBI)PMM1  5372  phosphomannomutase 1
AliasesSec53
GeneCards (Weizmann)PMM1
Ensembl hg19 (Hinxton)ENSG00000100417 [Gene_View]  chr22:41972890-41985871 [Contig_View]  PMM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100417 [Gene_View]  chr22:41972890-41985871 [Contig_View]  PMM1 [Vega]
ICGC DataPortalENSG00000100417
TCGA cBioPortalPMM1
AceView (NCBI)PMM1
Genatlas (Paris)PMM1
WikiGenes5372
SOURCE (Princeton)PMM1
Genetics Home Reference (NIH)PMM1
Genomic and cartography
GoldenPath hg19 (UCSC)PMM1  -     chr22:41972890-41985871 -  22q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PMM1  -     22q13.2   [Description]    (hg38-Dec_2013)
EnsemblPMM1 - 22q13.2 [CytoView hg19]  PMM1 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIPMM1 [Mapview hg19]  PMM1 [Mapview hg38]
OMIM601786   
Gene and transcription
Genbank (Entrez)AK094811 AK130449 AK289368 AK316580 BC010855
RefSeq transcript (Entrez)NM_002676
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)PMM1
Cluster EST : UnigeneHs.75835 [ NCBI ]
CGAP (NCI)Hs.75835
Alternative Splicing GalleryENSG00000100417
Gene ExpressionPMM1 [ NCBI-GEO ]   PMM1 [ EBI - ARRAY_EXPRESS ]   PMM1 [ SEEK ]   PMM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PMM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5372
GTEX Portal (Tissue expression)PMM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92871   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92871  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92871
Splice isoforms : SwissVarQ92871
Catalytic activity : Enzyme5.4.2.8 [ Enzyme-Expasy ]   5.4.2.85.4.2.8 [ IntEnz-EBI ]   5.4.2.8 [ BRENDA ]   5.4.2.8 [ KEGG ]   
PhosPhoSitePlusQ92871
Domains : Interpro (EBI)HAD-like_dom    HAD-SF_hydro_IIB    PMM   
Domain families : Pfam (Sanger)PMM (PF03332)   
Domain families : Pfam (NCBI)pfam03332   
Conserved Domain (NCBI)PMM1
DMDM Disease mutations5372
Blocks (Seattle)PMM1
PDB (SRS)2FUC    2FUE   
PDB (PDBSum)2FUC    2FUE   
PDB (IMB)2FUC    2FUE   
PDB (RSDB)2FUC    2FUE   
Structural Biology KnowledgeBase2FUC    2FUE   
SCOP (Structural Classification of Proteins)2FUC    2FUE   
CATH (Classification of proteins structures)2FUC    2FUE   
SuperfamilyQ92871
Human Protein AtlasENSG00000100417
Peptide AtlasQ92871
HPRD03473
IPIIPI00294903   IPI00892858   
Protein Interaction databases
DIP (DOE-UCLA)Q92871
IntAct (EBI)Q92871
FunCoupENSG00000100417
BioGRIDPMM1
STRING (EMBL)PMM1
ZODIACPMM1
Ontologies - Pathways
QuickGOQ92871
Ontology : AmiGOphosphomannomutase activity  protein binding  cytosol  mannose metabolic process  dolichol-linked oligosaccharide biosynthetic process  GDP-mannose biosynthetic process  GDP-mannose biosynthetic process  protein N-linked glycosylation via asparagine  mannose biosynthetic process  neuronal cell body  post-translational protein modification  cellular protein metabolic process  metal ion binding  
Ontology : EGO-EBIphosphomannomutase activity  protein binding  cytosol  mannose metabolic process  dolichol-linked oligosaccharide biosynthetic process  GDP-mannose biosynthetic process  GDP-mannose biosynthetic process  protein N-linked glycosylation via asparagine  mannose biosynthetic process  neuronal cell body  post-translational protein modification  cellular protein metabolic process  metal ion binding  
Pathways : KEGGFructose and mannose metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkPMM1
Atlas of Cancer Signalling NetworkPMM1
Wikipedia pathwaysPMM1
Orthology - Evolution
OrthoDB5372
GeneTree (enSembl)ENSG00000100417
Phylogenetic Trees/Animal Genes : TreeFamPMM1
HOVERGENQ92871
HOGENOMQ92871
Homologs : HomoloGenePMM1
Homology/Alignments : Family Browser (UCSC)PMM1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMM1
dbVarPMM1
ClinVarPMM1
1000_GenomesPMM1 
Exome Variant ServerPMM1
ExAC (Exome Aggregation Consortium)PMM1 (select the gene name)
Genetic variants : HAPMAP5372
Genomic Variants (DGV)PMM1 [DGVbeta]
DECIPHER (Syndromes)22:41972890-41985871  ENSG00000100417
CONAN: Copy Number AnalysisPMM1 
Mutations
ICGC Data PortalPMM1 
TCGA Data PortalPMM1 
Broad Tumor PortalPMM1
OASIS PortalPMM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PMM1
DgiDB (Drug Gene Interaction Database)PMM1
DoCM (Curated mutations)PMM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMM1 (select a term)
intoGenPMM1
Cancer3DPMM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601786   
Orphanet
MedgenPMM1
Genetic Testing Registry PMM1
NextProtQ92871 [Medical]
TSGene5372
GENETestsPMM1
Huge Navigator PMM1 [HugePedia]
snp3D : Map Gene to Disease5372
BioCentury BCIQPMM1
ClinGenPMM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5372
Chemical/Pharm GKB GenePA33440
Clinical trialPMM1
Miscellaneous
canSAR (ICR)PMM1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMM1
EVEXPMM1
GoPubMedPMM1
iHOPPMM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:39:02 CET 2017

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