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Details on Person UniProt:Q14697 GANAB

Class:IdReferenceGeneProduct:147707
_chainChangeLogsignal peptide:1-28 added on Fri February 6 2015;chain:29-944 added on Fri February 6 2015
_displayNameUniProt:Q14697 GANAB
_timestamp2025-02-21 19:27:58
chainsignal peptide:1-28
chain:29-944
checksum9E3426FE9A016BF1
commentFUNCTION Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).CATALYTIC ACTIVITY N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + H2O = N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + beta-D-glucoseCATALYTIC ACTIVITY N(4)-(alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + H2O = N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + beta-D-glucoseACTIVITY REGULATION Inhibited by deoxynojirimycin.PATHWAY Glycan metabolism; N-glycan metabolism.SUBUNIT Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH) (PubMed:10929008). Binds glycosylated PTPRC (By similarity).INTERACTION Identified by mass spectrometry in melanosome fractions from stage I to stage IV.ALTERNATIVE PRODUCTS Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE GANAB variations may act as a disease modifier in autosomal dominant polycystic liver disease in patients who have causative mutations in other genes, such as PKHD1 or ALG8.MISCELLANEOUS May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.SIMILARITY Belongs to the glycosyl hydrolase 31 family.SEQUENCE CAUTION Wrong choice of CDS.
created[InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10
descriptionrecommendedName: Neutral alpha-glucosidase AB ecNumber evidence="5"3.2.1.207 alternativeName: Alpha-glucosidase 2 alternativeName: fullName evidence="15"Glucosidase II subunit alpha
geneNameGANAB
G2AN
KIAA0088
identifierQ14697
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Direct protein sequencing
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Glycosidase
Golgi apparatus
Hydrolase
Phosphoprotein
Proteomics identification
Reference proteome
Signal
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameGANAB
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8989531] ENSEMBL:ENSG00000089597 GANAB [Homo sapiens]
secondaryIdentifierGANAB_HUMAN
A6NC20
Q8WTS9
Q9P0X0
sequenceLength944
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:147708] UniProt:Q14697-2 GANAB [Homo sapiens]
[ReferenceIsoform:147709] UniProt:Q14697-3 GANAB [Homo sapiens]
[ReferenceIsoform:405740] UniProt:Q14697-1 GANAB [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:532674] GANAB [endoplasmic reticulum lumen] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q14697 GANAB (147707)
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