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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATHL1 Gene

protein-coding   GIFtS: 48
GCID: GC11P000289

ATH1, Acid Trehalase-Like 1 (Yeast)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ATHL1 Gene: 
ATHL1 (ATH1, acid trehalase-like 1 (yeast)) is a protein-coding gene. Diseases associated with ATHL1 include tuberculosis, and gastric cancer. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATHL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q32M88

  • ATHL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATHL1 Protein Expression
    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)
    About This Section
    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


    ATHL1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Enzyme Number (IUBMB): EC 3.2.1.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0016798hydrolase activity, acting on glycosyl bonds IEA--
         
    ATHL1 for ontologies           About GeneDecksing


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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATHL1

    1 Interacting protein for ATHL1 (Q32M883) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KBTBD7Q8WVZ93I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    ATHL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATHL1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    hsa-miR-2117
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    Inhib. RNA
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    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 

    24/132 AceView cDNA sequences (see all 132):

    BQ710964 CB215432 BM709071 AI217945 BG696747 AL832932 AA600947 BX414795 
    BM851676 AW204789 BM842384 AW243672 BM910912 CN484790 AI986207 BE675601 
    AK074155 BQ006354 BG108572 CD244853 BM977428 BV196370 BI909103 AI469257 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATHL1 expression in normal human tissues (normalized intensities)      ATHL1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Cord Blood CD133- Cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Cord Blood CD133- Cells   
     
     Pancreas (Endocrine System)
             Pancreatic Islet   
     
     Neural Tube (Nervous System)
             Metencephalon

    See ATHL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATHL1

    SOURCE GeneReport for Unigene cluster: Hs.353181
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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATHL1 gene from 6/14 species (see all 14)    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_420923.3  XP_420923.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATHL16
    ATH1, acid trehalase-like 1 (yeast)
    57(a)
    1 ↔ 1
    1(77021993-77115795)
    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 46.57(n)
    34.67(a)
      34607  NM_135684.4  NP_609528.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATH16
    Acid trehalase required for utilization of extrace...
    12(a)
    1 ↔ 1
    XVI(615379-619014)


    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)
    About This Section
    Paralogs for ATHL1 gene
    1 SIMAP similar gene for ATHL1 using alignment to 5 protein entries:     ATHL1_HUMAN (see all proteins):
    FLJ00345

    ATHL1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/350 SNPs in ATHL1 are shown (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) 10/13 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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATHL1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for ATHL1:    About MalaCards
    tuberculosis    gastric cancer


    ATHL1 for disorders           About GeneDecksing

    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 9 sources (see all 11):
    (articles sorted by number of sources associating them with ATHL1)
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    1. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    5. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (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. (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. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (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. (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)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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