GANAB
entrez
23193
canonical
uniprot
Q14697
canonical
ensembl
ENSG00000089597
resolver
ensp
ENSP00000340466
resolver
ensp
ENSP00000349053
resolver
ensp
ENSP00000435306
resolver
ensp
ENSP00000442962
resolver
ensp
ENSP00000497655
resolver
ensp
ENSP00000603257
resolver
enst
ENST00000534779
resolver
enst
ENST00000540933
resolver
enst
ENST00000648273
resolver
genesymbol
GANAB
resolver
genesymbol_syn
G2AN
resolver
genesymbol_syn
KIAA0088
resolver
hgnc
HGNC:4138
resolver
uniprot
A6NC20
resolver
uniprot
B4DIW2
resolver
uniprot
B4DSM6
resolver
uniprot
B4DZ53
resolver
uniprot
E9PKU7
resolver
uniprot
F5H6X6
resolver
uniprot
Q8WTS9
resolver
uniprot
Q9P0X0
resolver
uniprot_entry
B4DIW2_HUMAN
resolver
uniprot_entry
B4DSM6_HUMAN
resolver
uniprot_entry
B4DZ53_HUMAN
resolver
uniprot_entry
E9PKU7_HUMAN
resolver
uniprot_entry
F5H6X6_HUMAN
resolver
uniprot_entry
GANAB_HUMAN
resolver
uniprot_sec
A6NC20
resolver
uniprot_sec
Q8WTS9
resolver
uniprot_sec
Q9P0X0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by deoxynojirimycin. {ECO:0000269|PubMed:10929008}.
uniprot
proteins
amino_acid_sequence
MAAVAAVAARRRRSWASLVLAFLGVCLGITLAVDRSNFKTCEESSFCKRQRSIRPGLSPYRALLDSLQLGPDSLTVHLIHEVTKVLLVLELQGLQKNMTRFRIDELEPRRPRYRVPDVLVADPPIARLSVSGRDENSVELTMAEGPYKIILTARPFRLDLLEDRSLLLSVNARGLLEFEHQRAPRVSQGSKDPAEGDGAQPEETPRDGDKPEETQGKAEKDEPGAWEETFKTHSDSKPYGPMSVGLDFSLPGMEHVYGIPEHADNLRLKVTEGGEPYRLYNLDVFQYELYNPMALYGSVPVLLAHNPHRDLGIFWLNAAETWVDISSNTAGKTLFGKMMDYLQGSGETPQTDVRWMSETGIIDVFLLLGPSISDVFRQYASLTGTQALPPLFSLGYHQSRWNYRDEADVLEVDQGFDDHNLPCDVIWLDIEHADGKRYFTWDPSRFPQPRTMLERLASKRRKLVAIVDPHIKVDSGYRVHEELRNLGLYVKTRDGSDYEGWCWPGSAGYPDFTNPTMRAWWANMFSYDNYEGSAPNLFVWNDMNEPSVFNGPEVTMLKDAQHYGGWEHRDVHNIYGLYVHMATADGLRQRSGGMERPFVLARAFFAGSQRFGAVWTGDNTAEWDHLKISIPMCLSLGLVGLSFCGADVGGFFKNPEPELLVRWYQMGAYQPFFRAHAHLDTGRREPWLLPSQHNDIIRDALGQRYSLLPFWYTLLYQAHREGIPVMRPLWVQYPQDVTTFNIDDQYLLGDALLVHPVSDSGAHGVQVYLPGQGEVWYDIQSYQKHHGPQTLYLPVTLSSIPVFQRGGTIVPRWMRVRRSSECMKDDPITLFVALSPQGTAQGELFLDDGHTFNYQTRQEFLLRRFSFSGNTLVSSSADPEGHFETPIWIERVVIIGAGKPAAVVLQTKGSPESRLSFQHDPETSVLVLRKPGINVASDWSIHLR
uniprot
proteins
disease_involvement
DISEASE: Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. {ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:33097077}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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. {ECO:0000269|PubMed:28375157, ECO:0000269|PubMed:33097077}.
uniprot
proteins
ec_number
3.2.1.207
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:10929008, ECO:0000269|PubMed:27259053}.
uniprot
proteins
mass_dalton
106874
uniprot
proteins
mutagenesis
MUTAGEN 542; /note="D->N: Loss of activity."; /evidence="ECO:0000269|PubMed:10929008
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; N-glycan metabolism. {ECO:0000269|PubMed:10929008}.
uniprot
proteins
protein_family
Glycosyl hydrolase 31 family
uniprot
proteins
pubmed
10929008
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27259053
uniprot
proteins
pubmed
28375157
uniprot
proteins
pubmed
33097077
uniprot
proteins
pubmed
3881423
uniprot
proteins
pubmed
7788527
uniprot
proteins
pubmed
8910335
uniprot
proteins
sequence_length
944
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:33097077, ECO:0000305|PubMed:10929008}. Golgi apparatus {ECO:0000250|UniProtKB:P79403}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.
uniprot
proteins