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Aliases for PGGHG Gene

Aliases for PGGHG Gene

  • Protein-Glucosylgalactosylhydroxylysine Glucosidase 2 3 5
  • Acid Trehalase-Like Protein 1 3 4
  • ATHL1 3 4
  • ATH1, Acid Trehalase-Like 1 (Yeast) 2
  • Testicular Tissue Protein Li 25 3
  • ATH1, Acid Trehalase-Like 1 3
  • EC 3.2.1.107 4

External Ids for PGGHG Gene

Previous HGNC Symbols for PGGHG Gene

  • ATHL1

Summaries for PGGHG Gene

GeneCards Summary for PGGHG Gene

PGGHG (Protein-Glucosylgalactosylhydroxylysine Glucosidase) is a Protein Coding gene.

UniProtKB/Swiss-Prot for PGGHG Gene

  • Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins.

Additional gene information for PGGHG Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGGHG Gene

Genomics for PGGHG Gene

Regulatory Elements for PGGHG Gene

Enhancers for PGGHG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H000311 1.6 FANTOM5 ENCODE dbSUPER 27.1 +27.0 27037 7 HDGF PKNOX1 ARNT SIN3A ARID4B YY1 ETS1 ZNF766 GLIS2 ZNF207 TMEM80 ENSG00000254910 IFITM3 PGGHG PIDD1 PHRF1 IFITM2 BET1L RIC8A SNORA52
GH11H000266 2 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -17.8 -17780 6.8 HDGF PKNOX1 FOXA2 ARNT YY1 ZNF766 CBX5 ZNF143 ZNF207 JUNB RIC8A IFITM2 PSMD13 BET1L TMEM80 PHRF1 SNORA52 SIRT3 PGGHG ENSG00000255237
GH11H000352 1.7 FANTOM5 Ensembl ENCODE 16.3 +66.8 66755 4.7 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B YBX1 DMAP1 YY1 ZNF766 IFITM1 ENSG00000251661 PGGHG TSPAN4 LOC105376505 IFITM3 ENSG00000255089 ENSG00000254910 TMEM80 ENSG00000255026
GH11H000296 0.8 ENCODE 32.8 +9.9 9858 1.4 HDAC1 PKNOX1 LEF1 PTBP1 HINFP CTBP1 NCOR1 POLR2A ATF7 RUNX3 PGGHG ENSG00000255026 IFITM5
GH11H000333 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 +48.0 47980 4.3 HDAC1 HDGF RAD21 ZNF766 GATA2 EGR1 SCRT2 ZBTB11 CEBPB ZEB2 ENSG00000255026 PGGHG NLRP6 LOC105376505 ENSG00000251661 ENSG00000270972 SIRT3 B4GALNT4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PGGHG on UCSC Golden Path with GeneCards custom track

Promoters for PGGHG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035594 1268 1401 TBP CTCF RB1 HINFP BACH1 ZBTB40 RELA CCNT2 ZFHX2 POLR2A

Genomic Locations for PGGHG Gene

Genomic Locations for PGGHG Gene
chr11:287,832-296,107
(GRCh38/hg38)
Size:
8,276 bases
Orientation:
Plus strand
chr11:289,135-296,107
(GRCh37/hg19)

Genomic View for PGGHG Gene

Genes around PGGHG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PGGHG Gene

Proteins for PGGHG Gene

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

    Protein Symbol:
    Q32M88-PGGHG_HUMAN
    Recommended name:
    Protein-glucosylgalactosylhydroxylysine glucosidase
    Protein Accession:
    Q32M88
    Secondary Accessions:
    • Q658X8
    • Q8TEG9
    • Q9H635

    Protein attributes for PGGHG Gene

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

    Alternative splice isoforms for PGGHG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGGHG Gene

Post-translational modifications for PGGHG Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PGGHG Gene

Domains & Families for PGGHG Gene

Gene Families for PGGHG Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PGGHG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q32M88

UniProtKB/Swiss-Prot:

PGGHG_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 PGGHG: view

Function for PGGHG Gene

Molecular function for PGGHG Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Protein alpha-D-glucosyl-(1->2)-beta-D-galactosyl-L-hydroxylysine + H(2)O = D-glucose + protein beta-D-galactosyl-L-hydroxylysine.
UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins.

Enzyme Numbers (IUBMB) for PGGHG Gene

Phenotypes From GWAS Catalog for PGGHG Gene

Gene Ontology (GO) - Molecular Function for PGGHG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0047402 protein-glucosylgalactosylhydroxylysine glucosidase activity IEA,IDA 26682924
genes like me logo Genes that share ontologies with PGGHG: view
genes like me logo Genes that share phenotypes with PGGHG: view

miRNA for PGGHG Gene

miRTarBase miRNAs that target PGGHG

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGGHG Gene

Localization for PGGHG Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGGHG gene
Compartment Confidence
cytosol 5
nucleus 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PGGHG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005618 cell wall IBA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PGGHG: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGGHG Gene

Pathways & Interactions for PGGHG Gene

SuperPathways for PGGHG Gene

No Data Available

Interacting Proteins for PGGHG Gene

Gene Ontology (GO) - Biological Process for PGGHG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA,IDA 26682924
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PGGHG: view

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

Drugs & Compounds for PGGHG Gene

No Compound Related Data Available

Transcripts for PGGHG Gene

Clone Products

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

No ASD Table

Relevant External Links for PGGHG Gene

GeneLoc Exon Structure for
PGGHG
ECgene alternative splicing isoforms for
PGGHG

Expression for PGGHG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of PGGHG Gene:

PGGHG

Evidence on tissue expression from TISSUES for PGGHG Gene

  • Intestine(4.3)
  • Spleen(4.3)
  • Liver(4.2)
  • Stomach(4.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with PGGHG: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGGHG Gene

Orthologs for PGGHG Gene

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

Orthologs for PGGHG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATHL1 33
  • 99.08 (n)
dog
(Canis familiaris)
Mammalia ATHL1 33 34
  • 82.83 (n)
cow
(Bos Taurus)
Mammalia ATHL1 34
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Athl1 33 34
  • 81.06 (n)
Pgghg 16
rat
(Rattus norvegicus)
Mammalia Athl1 33
  • 80.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATHL1 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATHL1 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATHL1 33 34
  • 64.92 (n)
lizard
(Anolis carolinensis)
Reptilia ATHL1 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia athl1 33
  • 57.5 (n)
zebrafish
(Danio rerio)
Actinopterygii athl1 33 34
  • 55.52 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008548 33
  • 49.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16965 33 34
  • 46.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATH1 34
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToOne
Species where no ortholog for PGGHG was found in the sources mined by GeneCards:
  • 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 PGGHG Gene

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

Paralogs for PGGHG Gene

No data available for Paralogs for PGGHG Gene

Variants for PGGHG Gene

Sequence variations from dbSNP and Humsavar for PGGHG Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000116014 -- 295,525(+) CCAGC(C/G)TTTGT nc-transcript-variant, utr-variant-3-prime
rs1000120544 -- 289,157(+) CGGGC(A/G)GCTCC nc-transcript-variant, utr-variant-5-prime
rs1000274492 -- 289,550(+) CTAAG(C/G)TAGCA intron-variant
rs1000383447 -- 293,665(+) ATGTT(C/T)GCAGG intron-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs1000514908 -- 288,941(+) GGCGC(C/T)TCGTG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv7212 OTHER inversion 18451855
nsv552765 CNV gain 21841781
nsv527327 CNV loss 19592680
nsv516809 CNV loss 19592680
nsv1118196 CNV deletion 24896259
nsv1070914 CNV deletion 25765185
nsv1052484 CNV gain 25217958
esv989344 CNV gain 20482838
esv3891905 CNV gain 25118596
dgv1505n54 CNV gain 21841781
dgv1012n100 CNV gain 25217958

Variation tolerance for PGGHG 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 PGGHG Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGGHG

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

Disorders for PGGHG Gene

Relevant External Links for PGGHG

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGGHG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGGHG

No disorders were found for PGGHG Gene.

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

Publications for PGGHG Gene

  1. Catalytic site of human protein-glucosylgalactosylhydroxylysine glucosidase: Three crucial carboxyl residues were determined by cloning and site-directed mutagenesis. (PMID: 26682924) Hamazaki H … Hamazaki MH (Biochemical and biophysical research communications 2016) 2 3 4 60
  2. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 60
  3. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods NT … Monteiro AN (Science signaling 2012) 3 60
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 60
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 60

Products for PGGHG Gene

Sources for PGGHG Gene

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