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ATHL1 Gene

protein-coding   GIFtS: 49
GCID: GC11P000289

ATH1, Acid Trehalase-Like 1 (Yeast)

  Search for ATHL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATH1, Acid Trehalase-Like 1 (Yeast)1 2
Acid Trehalase-Like Protein 12
EC 3.2.1.-3

External Ids:    HGNC: 262101   Entrez Gene: 801622   Ensembl: ENSG000001421027   UniProtKB: Q32M883   

Export aliases for ATHL1 gene to outside databases

Previous GC identifers: GC11P000280 GC11P000108


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATHL1 Gene:
ATHL1 (ATH1, acid trehalase-like 1 (yeast)) is a protein-coding gene. GO annotations related to this gene include hydrolase activity, acting on glycosyl bonds.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATHL1 gene promoter:
         AML1a   ATF-2   Lmo2   HNF-4alpha1   c-Ets-1   AREB6   CREB   FAC1   deltaCREB   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATHL1 promoter sequence
   Search Chromatin IP Primers for ATHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATHL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

ATHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATHL1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000289:  view genomic region     (about GC identifiers)

Start:
289,135 bp from pter      End:
296,107 bp from pter
Size:
6,973 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATHL1_HUMAN, Q32M88 (See protein sequence)
Recommended Name: Acid trehalase-like protein 1  
Size: 737 amino acids; 80655 Da
Sequence caution: Sequence=AAI09258.1; Type=Erroneous initiation; Sequence=AAI09259.1; Type=Erroneous initiation;
Sequence=BAB15431.1; Type=Erroneous initiation; Sequence=BAB84981.1; Type=Erroneous initiation;
Secondary accessions: Q658X8 Q8TEG9 Q9H635
Alternative splicing: 2 isoforms:  Q32M88-1   Q32M88-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATHL1: NX_Q32M88

Explore proteomics data for ATHL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079368.3  
    ENSEMBL proteins: 
     ENSP00000387185   ENSP00000386297   ENSP00000387099   ENSP00000431881   ENSP00000380780  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR012341 6hp_glycosidase
     IPR005195 Glyco_hydro_65_M
     IPR008928 6-hairpin_glycosidase-like

    Graphical View of Domain Structure for InterPro Entry Q32M88

    ProtoNet protein and cluster: Q32M88

    1 Blocks protein domain: IPB005195 Glycoside hydrolase

    UniProtKB/Swiss-Prot: ATHL1_HUMAN, Q32M88
    Similarity: Belongs to the glycosyl hydrolase 65 family


    Find genes that share domains with ATHL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Number (IUBMB): EC 3.2.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0016798hydrolase activity, acting on glycosyl bonds IEA--
         
    Find genes that share ontologies with ATHL1           About GenesLikeMe


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ATHL1:
    hsa-mir-744-5p (MIRT037738), hsa-mir-335-5p (MIRT018168)

    Block miRNA regulation of human, mouse, rat ATHL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ATHL1:
    hsa-miR-2117
    SwitchGear 3'UTR luciferase reporter plasmidATHL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATHL1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATHL1
    Interactions:

        Search GeneGlobe Interaction Network for ATHL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for ATHL1 (Q32M883 ENSP000003871854) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KBTBD7Q8WVZ93I2D: score=1 
    TREHENSP000002640294STRING: ENSP00000264029
    PGS1ENSP000002627644STRING: ENSP00000262764
    PLD1ENSP000003427934STRING: ENSP00000342793
    PLD2ENSP000002630884STRING: ENSP00000263088
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--

    Find genes that share ontologies with ATHL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATHL1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATHL1 gene: 
    NM_025092.4  

    Unigene Cluster for ATHL1:

    ATH1, acid trehalase-like 1 (yeast)
    Hs.353181  [show with all ESTs]
    Unigene Representative Sequence: AK074155
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474221(uc001lou.4) ENST00000409548(uc010qvu.2 uc001lor.4 uc001lov.4)
    ENST00000409655 ENST00000529087 ENST00000409479(uc001los.1) ENST00000482937
    ENST00000476372 ENST00000397660
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ATHL1:
    hsa-miR-2117
    SwitchGear 3'UTR luciferase reporter plasmidATHL1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ATHL1
      QuantiFast Probe-based Assays in human, mouse, rat ATHL1

    Additional mRNA sequence: 

    AK026288.1 AK074155.1 AK090428.1 AK296137.1 AL832932.1 BC048336.1 BC066641.1 BC109257.2 
    BC109258.2 

    15 DOTS entries:

    DT.311805  DT.100816348  DT.75141186  DT.102830263  DT.91658448  DT.100811242  DT.120727846  DT.100816354 
    DT.100022873  DT.100765503  DT.95356237  DT.120727852  DT.91758876  DT.95093805  DT.99930803 

    Selected AceView cDNA sequences (see all 132):

    AL832932 AA600947 CB215432 AW243672 BM842384 BM709071 BM851676 BM910912 
    BG696747 AI217945 BX414795 AW204789 BQ710964 AW027612 AJ708476 AI469257 
    CD244853 BF853729 BG765582 BV196370 BC066641 BM018521 BF344675 BI909103 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATHL1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ·
    SP1:                    -                                                                             -                                   -     -     -     -   
    SP2:                                                                                                  -                                               -         
    SP3:                                                        -                                                                                         -         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                  -     -   

    ExUns: 11c · 11d ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15a · 15b
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for ATHL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTCAAGGC
    ATHL1 Expression
    About this image


    ATHL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Pancreas (Endocrine System)
     
     Spleen (Hematopoietic System)
    ATHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATHL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.353181
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATHL1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Athl11 , 5 ATH1, acid trehalase-like 1 (yeast)1, 5 81.06(n)1
    78.41(a)1
      7 (86.16 cM)5
    2129741  NM_145387.41  NP_663362.21 
     1409413915 
    chicken
    (Gallus gallus)
    Aves ATHL11 ATH1, acid trehalase-like 1 (yeast) 64.92(n)
    59.91(a)
      422991  XM_004941311.1  XP_004941368.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATHL16
    ATH1, acid trehalase-like 1 (yeast)
    57(a)
    1 ↔ 1
    1(77021993-77115795)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia athl11 ATH1, acid trehalase-like 1 (yeast) 57.5(n)
    53.34(a)
      100496278  XM_002939332.2  XP_002939378.2 
    zebrafish
    (Danio rerio)
    Actinopterygii athl11 ATH1, acid trehalase-like 1 (yeast) 55.52(n)
    48.59(a)
      777617  NM_001077725.1  NP_001071193.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169651 CG16965 46.54(n)
    34.95(a)
      34607  NM_135684.4  NP_609528.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATH16
    Acid trehalase required for utilization of extrace...
    12(a)
    1 ↔ 1
    XVI(615379-619014) YPR026W


    ENSEMBL Gene Tree for ATHL1 (if available)
    TreeFam Gene Tree for ATHL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATHL1 gene
    1 SIMAP similar gene for ATHL1 using alignment to 5 protein entries:     ATHL1_HUMAN (see all proteins):
    FLJ00345

    Find genes that share paralogs with ATHL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATHL1 (see all 350)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1141123221,2
    Cuntested1294275(+) CACCCG/AAGCGG 2 /Q /R mis11Minor allele frequency- A:0.01WA 216
    rs1503984291,2
    --287196(+) ACTGAC/GGACTG 1 -- us2k10--------
    rs1383412971,2
    --287231(+) AGGGGA/GCAAGC 1 -- us2k10--------
    rs733965521,2
    C,F--287346(+) ACAGCG/AGAGTA 1 -- us2k13Minor allele frequency- A:0.26WA CSA 122
    rs128061581,2
    C,F--287407(+) gtttgC/Tgggtg 1 -- us2k13Minor allele frequency- T:0.34NA 124
    rs1138880031,2
    C--287416(+) TGGAGC/TTTGCG 1 -- us2k10--------
    rs1856597841,2
    --287420(+) GCTTGC/TGTGCT 1 -- us2k10--------
    rs359671961,2
    C--287433(-) CTGGAA/GCTTTC 1 -- us2k10--------
    rs1131982741,2
    C--287435(+) AAGTTC/TCAGAA 1 -- us2k10--------
    rs1138864581,2
    C,F--287491(+) GAGATG/AAGGTC 1 -- us2k12Minor allele frequency- A:0.20NA 122

    HapMap Linkage Disequilibrium report for ATHL1 (289135 - 296107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATHL1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527327CNV Loss19592680
    dgv917n71CNV Loss21882294
    dgv914n71CNV Loss21882294
    nsv516809CNV Loss19592680
    dgv915n71CNV Loss21882294
    dgv916n71CNV Loss21882294
    nsv896447CNV Loss21882294
    dgv913n71CNV Loss21882294
    nsv896463CNV Gain21882294
    nsv896440CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with ATHL1           About GenesLikeMe

    Genetic Association Database (GAD): ATHL1
    Human Genome Epidemiology (HuGE) Navigator: ATHL1 (1 document)

    Export disorders for ATHL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATHL1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ATHL1)
        Utopia: connect your pdf to the dynamic
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    1. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    5. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
    6. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    10. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)2 Jikuya H....Ohara O. (DNA Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80162 HGNC: 26210 AceView: FLJ22635 Ensembl:ENSG00000142102 euGenes: HUgn80162
    ECgene: ATHL1 H-InvDB: ATHL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATHL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATHL1 gene:
    Search GeneIP for patents involving ATHL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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