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

Gene ID: 80162, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
11p15.5
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (289126..296107)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (328918..337324)
105.20220307 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)

Genotypes

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_2023_10

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

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