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GALM (galactose mutarotase (aldose 1-epimerase))

Identity

Other aliasBLOCK25
GLAT
HEL-S-63p
IBD1
HGNC (Hugo) GALM
LocusID (NCBI) 130589
Atlas_Id 54322
Location 2p22.1  [Link to chromosome band 2p22]
Location_base_pair Starts at 38893052 and ends at 38961909 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GALM (2p22.1) / ALK (2p23.2)GALM (2p22.1) / HDDC2 (6q22.31)GALM (2p22.1) / SNX14 (6q14.3)

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)GALM   24063
Cards
Entrez_Gene (NCBI)GALM  130589  galactose mutarotase (aldose 1-epimerase)
AliasesBLOCK25; GLAT; HEL-S-63p; IBD1
GeneCards (Weizmann)GALM
Ensembl hg19 (Hinxton)ENSG00000143891 [Gene_View]  chr2:38893052-38961909 [Contig_View]  GALM [Vega]
Ensembl hg38 (Hinxton)ENSG00000143891 [Gene_View]  chr2:38893052-38961909 [Contig_View]  GALM [Vega]
ICGC DataPortalENSG00000143891
TCGA cBioPortalGALM
AceView (NCBI)GALM
Genatlas (Paris)GALM
WikiGenes130589
SOURCE (Princeton)GALM
Genetics Home Reference (NIH)GALM
Genomic and cartography
GoldenPath hg19 (UCSC)GALM  -     chr2:38893052-38961909 +  2p22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GALM  -     2p22.1   [Description]    (hg38-Dec_2013)
EnsemblGALM - 2p22.1 [CytoView hg19]  GALM - 2p22.1 [CytoView hg38]
Mapping of homologs : NCBIGALM [Mapview hg19]  GALM [Mapview hg38]
OMIM137030   
Gene and transcription
Genbank (Entrez)AK291489 BC014916 BC019263 DA984992 EU794611
RefSeq transcript (Entrez)NM_138801
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)GALM
Cluster EST : UnigeneHs.435012 [ NCBI ]
CGAP (NCI)Hs.435012
Alternative Splicing GalleryENSG00000143891
Gene ExpressionGALM [ NCBI-GEO ]   GALM [ EBI - ARRAY_EXPRESS ]   GALM [ SEEK ]   GALM [ MEM ]
Gene Expression Viewer (FireBrowse)GALM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)130589
GTEX Portal (Tissue expression)GALM
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96C23   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96C23  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96C23
Splice isoforms : SwissVarQ96C23
Catalytic activity : Enzyme5.1.3.3 [ Enzyme-Expasy ]   5.1.3.35.1.3.3 [ IntEnz-EBI ]   5.1.3.3 [ BRENDA ]   5.1.3.3 [ KEGG ]   
PhosPhoSitePlusQ96C23
Domaine pattern : Prosite (Expaxy)ALDOSE_1_EPIMERASE (PS00545)   
Domains : Interpro (EBI)Ald1_epimerase_CS    Aldose_1-epimerase    Aldose_1/G6P_1-epimerase    Gal_mutarotase_SF_dom    Glyco_hydro-type_carb-bd_sub   
Domain families : Pfam (Sanger)Aldose_epim (PF01263)   
Domain families : Pfam (NCBI)pfam01263   
Conserved Domain (NCBI)GALM
DMDM Disease mutations130589
Blocks (Seattle)GALM
PDB (SRS)1SNZ    1SO0   
PDB (PDBSum)1SNZ    1SO0   
PDB (IMB)1SNZ    1SO0   
PDB (RSDB)1SNZ    1SO0   
Structural Biology KnowledgeBase1SNZ    1SO0   
SCOP (Structural Classification of Proteins)1SNZ    1SO0   
CATH (Classification of proteins structures)1SNZ    1SO0   
SuperfamilyQ96C23
Human Protein AtlasENSG00000143891
Peptide AtlasQ96C23
HPRD13559
IPIIPI00060200   IPI00382746   IPI00917237   IPI00917473   IPI00916994   IPI00915933   
Protein Interaction databases
DIP (DOE-UCLA)Q96C23
IntAct (EBI)Q96C23
FunCoupENSG00000143891
BioGRIDGALM
STRING (EMBL)GALM
ZODIACGALM
Ontologies - Pathways
QuickGOQ96C23
Ontology : AmiGOaldose 1-epimerase activity  cytoplasm  glucose metabolic process  galactose metabolic process  carbohydrate binding  extracellular exosome  
Ontology : EGO-EBIaldose 1-epimerase activity  cytoplasm  glucose metabolic process  galactose metabolic process  carbohydrate binding  extracellular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis   
NDEx NetworkGALM
Atlas of Cancer Signalling NetworkGALM
Wikipedia pathwaysGALM
Orthology - Evolution
OrthoDB130589
GeneTree (enSembl)ENSG00000143891
Phylogenetic Trees/Animal Genes : TreeFamGALM
HOVERGENQ96C23
HOGENOMQ96C23
Homologs : HomoloGeneGALM
Homology/Alignments : Family Browser (UCSC)GALM
Gene fusions - Rearrangements
Fusion : MitelmanGALM/HDDC2 [2p22.1/6q22.31]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALM
dbVarGALM
ClinVarGALM
1000_GenomesGALM 
Exome Variant ServerGALM
ExAC (Exome Aggregation Consortium)GALM (select the gene name)
Genetic variants : HAPMAP130589
Genomic Variants (DGV)GALM [DGVbeta]
DECIPHER (Syndromes)2:38893052-38961909  ENSG00000143891
CONAN: Copy Number AnalysisGALM 
Mutations
ICGC Data PortalGALM 
TCGA Data PortalGALM 
Broad Tumor PortalGALM
OASIS PortalGALM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGALM
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 GALM
DgiDB (Drug Gene Interaction Database)GALM
DoCM (Curated mutations)GALM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALM (select a term)
intoGenGALM
Cancer3DGALM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137030   
Orphanet
MedgenGALM
Genetic Testing Registry GALM
NextProtQ96C23 [Medical]
TSGene130589
GENETestsGALM
Huge Navigator GALM [HugePedia]
snp3D : Map Gene to Disease130589
BioCentury BCIQGALM
ClinGenGALM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD130589
Chemical/Pharm GKB GenePA134980075
Clinical trialGALM
Miscellaneous
canSAR (ICR)GALM (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALM
EVEXGALM
GoPubMedGALM
iHOPGALM
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 13:07:00 CET 2017

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