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HEXA (hexosaminidase A (alpha polypeptide))

Identity

Other namesTSD
HGNC (Hugo) HEXA
LocusID (NCBI) 3073
Location 15q23
Location_base_pair Starts at 72635778 and ends at 72668520 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

External links

Nomenclature
HGNC (Hugo)HEXA   4878
Cards
Entrez_Gene (NCBI)HEXA  3073  hexosaminidase A (alpha polypeptide)
GeneCards (Weizmann)HEXA
Ensembl (Hinxton)ENSG00000213614 [Gene_View]  chr15:72635778-72668520 [Contig_View]  HEXA [Vega]
ICGC DataPortalENSG00000213614
cBioPortalHEXA
AceView (NCBI)HEXA
Genatlas (Paris)HEXA
WikiGenes3073
SOURCE (Princeton)NM_000520
Genomic and cartography
GoldenPath (UCSC)HEXA  -  15q23   chr15:72635778-72668520 -  15q23   [Description]    (hg19-Feb_2009)
EnsemblHEXA - 15q23 [CytoView]
Mapping of homologs : NCBIHEXA [Mapview]
OMIM272800   606869   
Gene and transcription
Genbank (Entrez)AK222502 AK296528 AK297678 AK301000 AK301138
RefSeq transcript (Entrez)NM_000520
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_009017 NT_010194 NW_001838218 NW_004929398
Consensus coding sequences : CCDS (NCBI)HEXA
Cluster EST : UnigeneHs.709495 [ NCBI ]
CGAP (NCI)Hs.709495
Alternative Splicing : Fast-db (Paris)GSHG0010564
Alternative Splicing GalleryENSG00000213614
Gene ExpressionHEXA [ NCBI-GEO ]     HEXA [ SEEK ]   HEXA [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06865 (Uniprot)
NextProtP06865  [Medical]
With graphics : InterProP06865
Splice isoforms : SwissVarP06865 (Swissvar)
Catalytic activity : Enzyme3.2.1.52 [ Enzyme-Expasy ]   3.2.1.523.2.1.52 [ IntEnz-EBI ]   3.2.1.52 [ BRENDA ]   3.2.1.52 [ KEGG ]   
Domains : Interpro (EBI)Beta_hexosaminidase_sua/sub [organisation]   Chitobiase/Hex_dom_2-like [organisation]   Glyco_hydro_20_cat-core [organisation]   Glyco_hydro_catalytic_dom [organisation]   Glycoside_hydrolase_SF [organisation]   HEX_eukaryotic_N [organisation]  
Related proteins : CluSTrP06865
Domain families : Pfam (Sanger)Glyco_hydro_20 (PF00728)    Glycohydro_20b2 (PF14845)   
Domain families : Pfam (NCBI)pfam00728    pfam14845   
DMDM Disease mutations3073
Blocks (Seattle)P06865
PDB (SRS)1QBC    2GJX    2GK1   
PDB (PDBSum)1QBC    2GJX    2GK1   
PDB (IMB)1QBC    2GJX    2GK1   
PDB (RSDB)1QBC    2GJX    2GK1   
Human Protein AtlasENSG00000213614 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP06865
HPRD06040
IPIIPI01013566   IPI00910542   IPI00027851   IPI00909914   IPI00930137   IPI00746701   
Protein Interaction databases
DIP (DOE-UCLA)P06865
IntAct (EBI)P06865
FunCoupENSG00000213614
BioGRIDHEXA
InParanoidP06865
Interologous Interaction database P06865
IntegromeDBHEXA
STRING (EMBL)HEXA
Ontologies - Pathways
Ontology : AmiGOskeletal system development  beta-N-acetylhexosaminidase activity  carbohydrate metabolic process  sphingolipid metabolic process  glycosphingolipid metabolic process  ganglioside catabolic process  lysosome organization  sensory perception of sound  adult walking behavior  cell death  membrane  lipid storage  sexual reproduction  glycosaminoglycan metabolic process  chondroitin sulfate metabolic process  chondroitin sulfate catabolic process  hyaluronan metabolic process  hyaluronan catabolic process  keratan sulfate metabolic process  keratan sulfate catabolic process  myelination  lysosomal lumen  small molecule metabolic process  protein heterodimerization activity  cell morphogenesis involved in neuron differentiation  neuromuscular process controlling posture  neuromuscular process controlling balance  extracellular vesicular exosome  
Ontology : EGO-EBIskeletal system development  beta-N-acetylhexosaminidase activity  carbohydrate metabolic process  sphingolipid metabolic process  glycosphingolipid metabolic process  ganglioside catabolic process  lysosome organization  sensory perception of sound  adult walking behavior  cell death  membrane  lipid storage  sexual reproduction  glycosaminoglycan metabolic process  chondroitin sulfate metabolic process  chondroitin sulfate catabolic process  hyaluronan metabolic process  hyaluronan catabolic process  keratan sulfate metabolic process  keratan sulfate catabolic process  myelination  lysosomal lumen  small molecule metabolic process  protein heterodimerization activity  cell morphogenesis involved in neuron differentiation  neuromuscular process controlling posture  neuromuscular process controlling balance  extracellular vesicular exosome  
Pathways : KEGGOther glycan degradation    Amino sugar and nucleotide sugar metabolism    Glycosaminoglycan degradation    Glycosphingolipid biosynthesis - globo series    Glycosphingolipid biosynthesis - ganglio series    Lysosome   
Protein Interaction DatabaseHEXA
Wikipedia pathwaysHEXA
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HEXA
snp3D : Map Gene to Disease3073
SNP (GeneSNP Utah)HEXA
SNP : HGBaseHEXA
Genetic variants : HAPMAPHEXA
Exome VariantHEXA
1000_GenomesHEXA 
ICGC programENSG00000213614 
Somatic Mutations in Cancer : COSMICHEXA 
CONAN: Copy Number AnalysisHEXA 
Mutations and Diseases : HGMDHEXA
Genomic VariantsHEXA  HEXA [DGVbeta]
dbVarHEXA
ClinVarHEXA
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM272800    606869   
MedgenHEXA
GENETestsHEXA
Disease Genetic AssociationHEXA
Huge Navigator HEXA [HugePedia]  HEXA [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHEXA
Homology/Alignments : Family Browser (UCSC)HEXA
Phylogenetic Trees/Animal Genes : TreeFamHEXA
Chemical/Protein Interactions : CTD3073
Chemical/Pharm GKB GenePA29256
Clinical trialHEXA
Cancer Resource (Charite)ENSG00000213614
Other databases
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
CoreMineHEXA
iHOPHEXA
OncoSearchHEXA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:57:50 CEST 2014

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