PGGHG (protein-glucosylgalactosylhydroxylysine glucosidase)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 80162
Gene name Protein-glucosylgalactosylhydroxylysine glucosidase
Gene symbol PGGHG
Synonyms (NCBI Gene)
ATHL1
Chromosome 11
Chromosome location 11p15.5
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IDA
GO:0005975 Process Carbohydrate metabolic process IBA
GO:0005975 Process Carbohydrate metabolic process IDA 26682924
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617032 26210 ENSG00000142102
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q32M88
Protein name Protein-glucosylgalactosylhydroxylysine glucosidase (EC 3.2.1.107) (Acid trehalase-like protein 1)
Protein function Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03632 Glyco_hydro_65m 281 → 495 Glycosyl hydrolase family 65 central catalytic domain Domain
Sequence 
MEDAGEDPTTFAAHSLPSDPRLLATVTNAYLGTRVFHDTLHVSGVYNGAGGDTHRAMLPS
PLNVRLEAPAGMGEQLTETFALDTNTGSFLHTLEGPRFRASQCIYAHRTLPHVLAFRVSI
ARLAPGSGPITLLLRSAFSPESPDLDLHQGPDFQGARYLYGHTLTPEQPGGPQQEVHMLW
TPAPPDLTLGEGEEARTWDFLTAVGGSQAEAQACLTEALQLQARGALYTAHAQAWAQLWV
ECGLDVVGPLQLRQALRGSLYYLLSALPQPKAPGYICHGLSPGGLSNGSREECYWGHVFW
DQDLWMFPSILMFHPEAARAILEYRIRTLDGALENAQNLGYQGAKFAWESADSGLEVCPE
DIYGVQEVHVNGAVVLAFELYYHTTQDLQLFREAGGWDVVRAVAEFWCSRVEWSPREEKY
HLRGVMSPDEYHSGVNNSVYTNVLVQNSLRFAAALAQDLGLPIPSQWLAVADKIKVPFDV
EQNFHPEFDGYEPGEVVKQADVVLLGYPVPFSLSPDVRRKNLEIYEAVTSPQGPAMTWSM
FAVGWMELKDAVRARGLLDRSFANMAEPFKVWTENADGSGAVNFLTGMGGFLQAVVFGCT
GFRVTRAGVTFDPVCLSGISRVSVSGIFYQGNKLNFSFSEDSVTVEVTARAGPWAPHLEA
ELWPSQSRLSLLPGHKVSFPRSAGRIQMSPPKLPGSSSSEFPGRTFSDVRDPLQSPLWVT
LGSSSPTESLTVDPASE
Sequence length 737
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OSTEOGENESIS IMPERFECTA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE V — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS, POSTMENOPAUSAL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
COVID 19 Associate 34185889
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Associate 36714595
★★★★★
★☆☆☆☆
Found in Text Mining only
Pulmonary Arterial Hypertension Associate 37753829
★★★★★
★☆☆☆☆
Found in Text Mining only