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    PGGHG protein-glucosylgalactosylhydroxylysine glucosidase [ Homo sapiens (human) ]

    Gene ID: 80162, updated on 15-Jun-2019

    Summary

    Official Symbol
    PGGHGprovided by HGNC
    Official Full Name
    protein-glucosylgalactosylhydroxylysine glucosidaseprovided by HGNC
    Primary source
    HGNC:HGNC:26210
    See related
    Ensembl:ENSG00000142102 MIM:617032
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATHL1
    Expression
    Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues See more
    Orthologs

    Genomic context

    See PGGHG in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (287760..295688)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (288480..297511)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 8B, pseudogene Neighboring gene NLR family pyrin domain containing 6 Neighboring gene interferon induced transmembrane protein 5 Neighboring gene mitochondrial ribosomal protein S24 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22635, MGC129858, MGC129859

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hydrolase activity, hydrolyzing O-glycosyl compounds IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein-glucosylgalactosylhydroxylysine glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein-glucosylgalactosylhydroxylysine glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carbohydrate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein-glucosylgalactosylhydroxylysine glucosidase
    Names
    ATH1, acid trehalase-like 1
    acid trehalase-like protein 1
    testicular tissue protein Li 25
    NP_079368.3
    XP_011518685.1
    XP_011518686.1
    XP_011518687.1
    XP_011518688.1
    XP_011518689.1
    XP_016873844.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_025092.5NP_079368.3  protein-glucosylgalactosylhydroxylysine glucosidase

      See identical proteins and their annotated locations for NP_079368.3

      Status: VALIDATED

      Source sequence(s)
      AC136475, AI217945, AI919161, AL832932, BC109257, BM842384, BP262327, CN298034
      Consensus CDS
      CCDS31322.2
      UniProtKB/Swiss-Prot
      Q32M88
      UniProtKB/TrEMBL
      A0A024R1Z9
      Related
      ENSP00000387185.2, ENST00000409548.6
      Conserved Domains (3) summary
      COG1554
      Location:23659
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292608
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      287760..296107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520383.2XP_011518685.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X1

      See identical proteins and their annotated locations for XP_011518685.1

      UniProtKB/Swiss-Prot
      Q32M88
      UniProtKB/TrEMBL
      A0A024R1Z9
      Conserved Domains (3) summary
      COG1554
      Location:23659
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292608
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)
    2. XM_011520385.3XP_011518687.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X3

      Conserved Domains (3) summary
      COG1554
      Location:23491
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292491
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)
    3. XM_011520386.2XP_011518688.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X4

      Conserved Domains (3) summary
      COG1554
      Location:23424
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292424
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)
    4. XM_011520387.2XP_011518689.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X5

      Conserved Domains (3) summary
      COG1554
      Location:23423
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292423
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)
    5. XM_011520384.2XP_011518686.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X2

      Conserved Domains (3) summary
      COG1554
      Location:23641
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292604
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)
    6. XM_017018355.1XP_016873844.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X1

      UniProtKB/Swiss-Prot
      Q32M88
      UniProtKB/TrEMBL
      A0A024R1Z9
      Conserved Domains (3) summary
      COG1554
      Location:23659
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292608
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    RNA

    1. XR_428856.3 RNA Sequence

    2. XR_930912.2 RNA Sequence

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