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Aliases for ATHL1 Gene

Aliases for ATHL1 Gene

  • ATH1, Acid Trehalase-Like 1 (Yeast) 2 3 5
  • EC 3.2.1.- 4

External Ids for ATHL1 Gene

Previous GeneCards Identifiers for ATHL1 Gene

  • GC11P000280
  • GC11P000108

Summaries for ATHL1 Gene

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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATHL1 Gene

Genomics for ATHL1 Gene

Regulatory Elements for ATHL1 Gene

Enhancers for ATHL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATHL1 on UCSC Golden Path with GeneCards custom track

Promoters for ATHL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATHL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATHL1 Gene

Chromosome:
11
Start:
287,832 bp from pter
End:
296,107 bp from pter
Size:
8,276 bases
Orientation:
Plus strand

Genomic View for ATHL1 Gene

Genes around ATHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATHL1 Gene

Proteins for ATHL1 Gene

  • Protein details for ATHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32M88-ATHL1_HUMAN
    Recommended name:
    Acid trehalase-like protein 1
    Protein Accession:
    Q32M88
    Secondary Accessions:
    • Q658X8
    • Q8TEG9
    • Q9H635

    Protein attributes for ATHL1 Gene

    Size:
    737 amino acids
    Molecular mass:
    80655 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI09258.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI09259.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15431.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB84981.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATHL1 Gene

Proteomics data for ATHL1 Gene at MOPED

Post-translational modifications for ATHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATHL1 Gene

No data available for DME Specific Peptides for ATHL1 Gene

Domains & Families for ATHL1 Gene

Suggested Antigen Peptide Sequences for ATHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q32M88

UniProtKB/Swiss-Prot:

ATHL1_HUMAN :
  • Belongs to the glycosyl hydrolase 65 family.
Family:
  • Belongs to the glycosyl hydrolase 65 family.
genes like me logo Genes that share domains with ATHL1: view

No data available for Gene Families for ATHL1 Gene

Function for ATHL1 Gene

Enzyme Numbers (IUBMB) for ATHL1 Gene

genes like me logo Genes that share phenotypes with ATHL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATHL1

miRNA for ATHL1 Gene

miRTarBase miRNAs that target ATHL1

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATHL1 Gene

Localization for ATHL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATHL1 Gene COMPARTMENTS Subcellular localization image for ATHL1 gene
Compartment Confidence
cytosol 3
nucleus 3
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATHL1 Gene

Pathways & Interactions for ATHL1 Gene

SuperPathways for ATHL1 Gene

No Data Available

Interacting Proteins for ATHL1 Gene

Gene Ontology (GO) - Biological Process for ATHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ATHL1: view

No data available for Pathways by source and SIGNOR curated interactions for ATHL1 Gene

Drugs & Compounds for ATHL1 Gene

No Compound Related Data Available

Transcripts for ATHL1 Gene

Unigene Clusters for ATHL1 Gene

ATH1, acid trehalase-like 1 (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATHL1 Gene

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: - -
SP6: - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - -
SP10:
SP11:
SP12:

ExUns: 11c · 11d ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:

Relevant External Links for ATHL1 Gene

GeneLoc Exon Structure for
ATHL1
ECgene alternative splicing isoforms for
ATHL1

Expression for ATHL1 Gene

mRNA expression in normal human tissues for ATHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATHL1 Gene

This gene is overexpressed in Pancreas (x15.6) and Whole Blood (x7.8).

Protein differential expression in normal tissues from HIPED for ATHL1 Gene

This gene is overexpressed in CD8 Tcells (19.2), Cerebrospinal fluid (13.3), NK cells (12.0), and Lymph node (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ATHL1 Gene



SOURCE GeneReport for Unigene cluster for ATHL1 Gene Hs.353181

genes like me logo Genes that share expression patterns with ATHL1: view

Protein tissue co-expression partners for ATHL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ATHL1 Gene

Orthologs for ATHL1 Gene

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

Orthologs for ATHL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ATHL1 35
  • 82.83 (n)
  • 81.35 (a)
ATHL1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Athl1 35
  • 81.06 (n)
  • 78.41 (a)
Athl1 16
Athl1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATHL1 35
  • 99.08 (n)
  • 98.93 (a)
rat
(Rattus norvegicus)
Mammalia Athl1 35
  • 80.72 (n)
  • 78.08 (a)
cow
(Bos Taurus)
Mammalia ATHL1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATHL1 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATHL1 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATHL1 35
  • 64.92 (n)
  • 59.91 (a)
ATHL1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATHL1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia athl1 35
  • 57.5 (n)
  • 53.34 (a)
zebrafish
(Danio rerio)
Actinopterygii athl1 35
  • 55.52 (n)
  • 48.59 (a)
athl1 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008548 35
  • 49.23 (n)
  • 36.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16965 35
  • 46.54 (n)
  • 34.95 (a)
CG16965 36
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATH1 36
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for ATHL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATHL1 Gene

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

Paralogs for ATHL1 Gene

(1) SIMAP similar genes for ATHL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ATHL1: view

No data available for Paralogs for ATHL1 Gene

Variants for ATHL1 Gene

Sequence variations from dbSNP and Humsavar for ATHL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1060814 -- 295,445(+) GGGCG(A/C)GACCC nc-transcript-variant, utr-variant-3-prime
rs1060819 -- 295,527(+) AGCCT(C/T)TGTCT nc-transcript-variant, utr-variant-3-prime
rs1060831 -- 295,631(+) CCTGC(A/C)CCGCT nc-transcript-variant, utr-variant-3-prime
rs2242564 -- 295,006(+) CGCAC(C/G/T)GTCCC nc-transcript-variant, utr-variant-3-prime
rs2242565 -- 295,343(+) CGTGG(A/G)GTGGG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATHL1 Gene

Variant ID Type Subtype PubMed ID
dgv911n71 CNV Gain 21882294
nsv896440 CNV Gain 21882294
nsv896447 CNV Loss 21882294
dgv913n71 CNV Loss 21882294
dgv914n71 CNV Loss 21882294
dgv915n71 CNV Loss 21882294
nsv7212 OTHER Inversion 18451855
dgv916n71 CNV Loss 21882294
dgv917n71 CNV Loss 21882294
nsv896463 CNV Gain 21882294
nsv516809 CNV Loss 19592680
esv989344 CNV Gain 20482838
nsv527327 CNV Loss 19592680

Variation tolerance for ATHL1 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATHL1 Gene

HapMap Linkage Disequilibrium report
ATHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATHL1 Gene

Disorders for ATHL1 Gene

Relevant External Links for ATHL1

Genetic Association Database (GAD)
ATHL1
Human Genome Epidemiology (HuGE) Navigator
ATHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATHL1

No disorders were found for ATHL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATHL1 Gene

Publications for ATHL1 Gene

  1. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 48 67
  2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3
  3. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y. … Sugano S. (Genome Res. 2004) 3

Products for ATHL1 Gene

Sources for ATHL1 Gene

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