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ATHL1 (ATH1, acid trehalase-like 1 (yeast))

Identity

Other alias-
HGNC (Hugo) ATHL1
LocusID (NCBI) 80162
Atlas_Id 60601
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 289138 and ends at 295688 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATHL1 (11p15.5) / ATHL1 (11p15.5)ATHL1 (11p15.5) / WBP2 (17q25.1)NPR2 (9p13.3) / ATHL1 (11p15.5)
RBCK1 (20p13) / ATHL1 (11p15.5)

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)ATHL1   26210
Cards
Entrez_Gene (NCBI)ATHL1  80162  ATH1, acid trehalase-like 1 (yeast)
Aliases
GeneCards (Weizmann)ATHL1
Ensembl hg19 (Hinxton)ENSG00000142102 [Gene_View]  chr11:289138-295688 [Contig_View]  ATHL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142102 [Gene_View]  chr11:289138-295688 [Contig_View]  ATHL1 [Vega]
ICGC DataPortalENSG00000142102
TCGA cBioPortalATHL1
AceView (NCBI)ATHL1
Genatlas (Paris)ATHL1
WikiGenes80162
SOURCE (Princeton)ATHL1
Genetics Home Reference (NIH)ATHL1
Genomic and cartography
GoldenPath hg19 (UCSC)ATHL1  -     chr11:289138-295688 +  11p15.5   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATHL1  -     11p15.5   [Description]    (hg38-Dec_2013)
EnsemblATHL1 - 11p15.5 [CytoView hg19]  ATHL1 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIATHL1 [Mapview hg19]  ATHL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI217945 AI919161 AK026288 AK074155 AK090428
RefSeq transcript (Entrez)NM_025092
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)ATHL1
Cluster EST : UnigeneHs.353181 [ NCBI ]
CGAP (NCI)Hs.353181
Alternative Splicing GalleryENSG00000142102
Gene ExpressionATHL1 [ NCBI-GEO ]   ATHL1 [ EBI - ARRAY_EXPRESS ]   ATHL1 [ SEEK ]   ATHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATHL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80162
GTEX Portal (Tissue expression)ATHL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ32M88   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ32M88  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ32M88
Splice isoforms : SwissVarQ32M88
PhosPhoSitePlusQ32M88
Domains : Interpro (EBI)6-hairpin_glycosidase-like    6hp_glycosidase    Glyco_hydro_65_M   
Domain families : Pfam (Sanger)Glyco_hydro_65m (PF03632)   
Domain families : Pfam (NCBI)pfam03632   
Conserved Domain (NCBI)ATHL1
DMDM Disease mutations80162
Blocks (Seattle)ATHL1
SuperfamilyQ32M88
Human Protein AtlasENSG00000142102
Peptide AtlasQ32M88
HPRD07999
IPIIPI00152739   IPI00747166   IPI00386188   IPI00744190   IPI00917437   IPI00985088   IPI00973724   
Protein Interaction databases
DIP (DOE-UCLA)Q32M88
IntAct (EBI)Q32M88
FunCoupENSG00000142102
BioGRIDATHL1
STRING (EMBL)ATHL1
ZODIACATHL1
Ontologies - Pathways
QuickGOQ32M88
Ontology : AmiGOcarbohydrate metabolic process  hydrolase activity, acting on glycosyl bonds  
Ontology : EGO-EBIcarbohydrate metabolic process  hydrolase activity, acting on glycosyl bonds  
NDEx NetworkATHL1
Atlas of Cancer Signalling NetworkATHL1
Wikipedia pathwaysATHL1
Orthology - Evolution
OrthoDB80162
GeneTree (enSembl)ENSG00000142102
Phylogenetic Trees/Animal Genes : TreeFamATHL1
HOVERGENQ32M88
HOGENOMQ32M88
Homologs : HomoloGeneATHL1
Homology/Alignments : Family Browser (UCSC)ATHL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATHL1
dbVarATHL1
ClinVarATHL1
1000_GenomesATHL1 
Exome Variant ServerATHL1
ExAC (Exome Aggregation Consortium)ATHL1 (select the gene name)
Genetic variants : HAPMAP80162
Genomic Variants (DGV)ATHL1 [DGVbeta]
DECIPHER (Syndromes)11:289138-295688  ENSG00000142102
CONAN: Copy Number AnalysisATHL1 
Mutations
ICGC Data PortalATHL1 
TCGA Data PortalATHL1 
Broad Tumor PortalATHL1
OASIS PortalATHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATHL1
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 ATHL1
DgiDB (Drug Gene Interaction Database)ATHL1
DoCM (Curated mutations)ATHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATHL1 (select a term)
intoGenATHL1
Cancer3DATHL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenATHL1
Genetic Testing Registry ATHL1
NextProtQ32M88 [Medical]
TSGene80162
GENETestsATHL1
Huge Navigator ATHL1 [HugePedia]
snp3D : Map Gene to Disease80162
BioCentury BCIQATHL1
ClinGenATHL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80162
Chemical/Pharm GKB GenePA142672576
Clinical trialATHL1
Miscellaneous
canSAR (ICR)ATHL1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATHL1
EVEXATHL1
GoPubMedATHL1
iHOPATHL1
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 11:55:19 CET 2017

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