2. Gene
  3. PGGHG - protein-glucosylgalactosylhydroxylysine glucosidase Gene

PGGHG - protein-glucosylgalactosylhydroxylysine glucosidase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ATHL1

Gene ID: 80162 | Gene type: protein coding

About PGGHG

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:289,126-296,107 (from NCBI)

This gene has 8 transcripts (splice variants) and 190 orthologues. Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues.

Summary

Enables protein-glucosylgalactosylhydroxylysine Glucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PGGHG Products(1)

mRNA Protein Name
NM_025092.5 NP_079368.3 protein-glucosylgalactosylhydroxylysine glucosidase
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein-glucosylgalactosylhydroxylysine glucosidase activity IDA
IDA: Inferred from direct assay
26682924 GOA
Biological Process GO Annotation Evidence Reference Source
involved in carbohydrate metabolic process IDA
IDA: Inferred from direct assay
26682924 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PGGHG Protein Structure

Glyco_hydro_65m

Glyco_hydro_65m: Glycosyl hydrolase family 65 central catalytic domain (259 - 605)

  • 0
  • 200
  • 400
  • 600
  • 737 a.a.
Protein Preferred Names Protein Names

protein-glucosylgalactosylhydroxylysine glucosidase

ATH1, acid trehalase-like 1

Related Diseases

Diseases Alias
Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3

FHL3

Hplh3

Hlh3

Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
Hypoparathyroidism, X-Linked

HYPX

X-Linked Hypoparathyroidism

Parathyroid Glands, Agenesis Of

Agenesis Of Parathyroid Glands

Hypoparathyroidism X-Linked

Hypoparathyroidism - X-Linked
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10382 PGGHG Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PGGHG VGNC VGNC:57356
Felis catus PGGHG VGNC VGNC:64122
Canis familiaris PGGHG VGNC VGNC:44458
Rattus norvegicus PGGHG RGD RGD:1306015
Macaca mulatta PGGHG VGNC VGNC:75870
Mus musculus PGGHG MGD MGI:2444047