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

    Gene ID: 80162, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PGGHGprovided by HGNC
    Official Full Name
    protein-glucosylgalactosylhydroxylysine glucosidaseprovided by HGNC
    Primary source
    HGNC:HGNC:26210
    See related
    Ensembl:ENSG00000142102 MIM:617032; AllianceGenome:HGNC:26210
    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
    Summary
    Enables protein-glucosylgalactosylhydroxylysine glucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PGGHG in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (289126..296107)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (328918..337324)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (289126..296107)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:257568-258068 Neighboring gene cytochrome c oxidase subunit 8B, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:279707-280257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2991 Neighboring gene NLR family pyrin domain containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:283867-284636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:287773-288302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:288303-288832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4259 Neighboring gene interferon induced transmembrane protein 5 Neighboring gene mitochondrial ribosomal protein S24 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Catalytic site of human protein-glucosylgalactosylhydroxylysine glucosidase: Three crucial carboxyl residues were determined by cloning and site-directed mutagenesis. Hamazaki H, et al. Biochem Biophys Res Commun, 2016 Jan 15. PMID 26682924
    2. RNF208, an estrogen-inducible E3 ligase, targets soluble Vimentin to suppress metastasis in triple-negative breast cancers. Pang K, et al. Nat Commun, 2019 Dec 20. PMID 31862882, Free PMC Article
    3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. Wheeler HE, et al. PLoS Genet, 2009 Oct. PMID 19834535, Free PMC Article
    4. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22635, MGC129858, MGC129859

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-glucosylgalactosylhydroxylysine glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-glucosylgalactosylhydroxylysine glucosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in carbohydrate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    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_011518686.1
    XP_011518687.1
    XP_011518688.1
    XP_011518689.1
    XP_016873844.1
    XP_047283589.1
    XP_047283590.1
    XP_054226004.1
    XP_054226005.1
    XP_054226006.1
    XP_054226007.1
    XP_054226008.1
    XP_054226009.1
    XP_054226010.1
    XP_054226011.1

    NCBI Reference Sequences (RefSeq)

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    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_025092.5 → NP_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, Q658X8, Q8TEG9, Q9H635
      UniProtKB/TrEMBL
      A0A024R1Z9, E7EMA9
      Related
      ENSP00000387185.2, ENST00000409548.7
      Conserved Domains (3) summary
      COG1554
      Location:23 → 659
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292 → 608
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16 → 297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      289126..296107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018355.2 → XP_016873844.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X1

      UniProtKB/Swiss-Prot
      Q32M88, Q658X8, Q8TEG9, Q9H635
      UniProtKB/TrEMBL
      A0A024R1Z9, E7EMA9
      Related
      ENSP00000387099.1, ENST00000409479.5
      Conserved Domains (3) summary
      COG1554
      Location:23 → 659
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292 → 608
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16 → 297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    2. XM_011520384.3 → XP_011518686.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X2

      UniProtKB/TrEMBL
      E7EMA9
      Conserved Domains (3) summary
      COG1554
      Location:23 → 641
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292 → 604
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16 → 297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    3. XM_047427633.1 → XP_047283589.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X3

    4. XM_047427634.1 → XP_047283590.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X4

    5. XM_011520385.4 → XP_011518687.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X5

      Conserved Domains (3) summary
      COG1554
      Location:23 → 491
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292 → 491
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16 → 297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    6. XM_011520386.3 → XP_011518688.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X6

      Conserved Domains (3) summary
      COG1554
      Location:23 → 424
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292 → 424
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16 → 297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    7. XM_011520387.3 → XP_011518689.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X7

      Conserved Domains (3) summary
      COG1554
      Location:23 → 423
      ATH1; Trehalose and maltose hydrolase (possible phosphorylase) [Carbohydrate transport and metabolism]
      pfam03632
      Location:292 → 423
      Glyco_hydro_65m; Glycosyl hydrolase family 65 central catalytic domain
      pfam10222
      Location:16 → 297
      DUF2152; Uncharacterized conserved protein (DUF2152)

    RNA

    1. XR_007062505.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      328918..337324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370030.1 → XP_054226005.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X1

      UniProtKB/Swiss-Prot
      Q32M88, Q658X8, Q8TEG9, Q9H635
      UniProtKB/TrEMBL
      A0A024R1Z9

    2. XM_054370035.1 → XP_054226010.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X6

    3. XM_054370032.1 → XP_054226007.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X3

    4. XM_054370033.1 → XP_054226008.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X4

    5. XM_054370034.1 → XP_054226009.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X5

    6. XM_054370036.1 → XP_054226011.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X7

    7. XM_054370031.1 → XP_054226006.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X2

    8. XM_054370029.1 → XP_054226004.1  protein-glucosylgalactosylhydroxylysine glucosidase isoform X1

      UniProtKB/Swiss-Prot
      Q32M88, Q658X8, Q8TEG9, Q9H635
      UniProtKB/TrEMBL
      A0A024R1Z9

    RNA

    1. XR_008488457.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32M88.2 GenPept UniProtKB/Swiss-Prot:Q32M88

    Gene LinkOut

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