GANAB

Protein identityUniProt · HPA

UniProt accession

Q14697

Gene

GANAB

Ensembl

ENSG00000089597

Chromosome

11

Canonical length

944 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Endoplasmic reticulum

Secretome location

Intracellular and membrane

OverviewNCBI Gene

This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

944 residues, UniProt reviewed canonical sequence.

>Q14697|GANAB
     1  MAAVAAVAAR RRRSWASLVL AFLGVCLGIT LAVDRSNFKT CEESSFCKRQ RSIRPGLSPY
    61  RALLDSLQLG PDSLTVHLIH EVTKVLLVLE LQGLQKNMTR FRIDELEPRR PRYRVPDVLV
   121  ADPPIARLSV SGRDENSVEL TMAEGPYKII LTARPFRLDL LEDRSLLLSV NARGLLEFEH
   181  QRAPRVSQGS KDPAEGDGAQ PEETPRDGDK PEETQGKAEK DEPGAWEETF KTHSDSKPYG
   241  PMSVGLDFSL PGMEHVYGIP EHADNLRLKV TEGGEPYRLY NLDVFQYELY NPMALYGSVP
   301  VLLAHNPHRD LGIFWLNAAE TWVDISSNTA GKTLFGKMMD YLQGSGETPQ TDVRWMSETG
   361  IIDVFLLLGP SISDVFRQYA SLTGTQALPP LFSLGYHQSR WNYRDEADVL EVDQGFDDHN
   421  LPCDVIWLDI EHADGKRYFT WDPSRFPQPR TMLERLASKR RKLVAIVDPH IKVDSGYRVH
   481  EELRNLGLYV KTRDGSDYEG WCWPGSAGYP DFTNPTMRAW WANMFSYDNY EGSAPNLFVW
   541  NDMNEPSVFN GPEVTMLKDA QHYGGWEHRD VHNIYGLYVH MATADGLRQR SGGMERPFVL
   601  ARAFFAGSQR FGAVWTGDNT AEWDHLKISI PMCLSLGLVG LSFCGADVGG FFKNPEPELL
   661  VRWYQMGAYQ PFFRAHAHLD TGRREPWLLP SQHNDIIRDA LGQRYSLLPF WYTLLYQAHR
   721  EGIPVMRPLW VQYPQDVTTF NIDDQYLLGD ALLVHPVSDS GAHGVQVYLP GQGEVWYDIQ
   781  SYQKHHGPQT LYLPVTLSSI PVFQRGGTIV PRWMRVRRSS ECMKDDPITL FVALSPQGTA
   841  QGELFLDDGH TFNYQTRQEF LLRRFSFSGN TLVSSSADPE GHFETPIWIE RVVIIGAGKP
   901  AAVVLQTKGS PESRLSFQHD PETSVLVLRK PGINVASDWS IHLR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GANAB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.21

Highest tissue expression

161 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GANAB.

Disease | AllUniProt

Conditions GANAB is implicated in, by any mechanism.

• Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) MIM:600666

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 633 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Polycystic kidney disease 3 with or without polycystic liver disease
• Autosomal dominant polycystic liver disease
• POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
• GANAB-related disorder
• Biliary tract abnormality

Disease | ImmuneIEDB

Conditions an epitope on GANAB was assayed in.

• skin melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.27

gnomAD pLI

1

gnomAD missense Z

2.24

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbohydrate metabolic process
• N-glycan processing

Molecular functions

• alpha-glucosidase activity
• carbohydrate binding
• RNA binding
• Glc2Man9GlcNAc2 oligosaccharide glucosidase activity
• glucan 1,3-alpha-glucosidase activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum lumen
• extracellular exosome
• glucosidase II complex
• Golgi apparatus
• intracellular membrane-bounded organelle
• melanosome
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycoside hydrolase family 31, TIM barrel domain
• Galactose mutarotase-like domain superfamily
• Glycosyl hydrolase, all-beta
• Glycoside hydrolase superfamily
• Glycoside hydrolase family 31, N-terminal domain
• Glycosyl hydrolases family 31, active site
• Glycosyl hydrolases family 31, conserved site
• Glycosyl hydrolase family 31, C-terminal domain
• Glycosyl hydrolases family 31 TIM-barrel domain
• Glycosyl hydrolase 31 N-terminal galactose mutarotase-like domain
• Glycosyl hydrolase family 31 C-terminal domain

KeywordsUniProt

• Disulfide bond
• Endoplasmic reticulum
• Glycoprotein
• Glycosidase
• Golgi apparatus
• Hydrolase
• Phosphoprotein
• Signal

InteractionsUniProt · HPA

Protein binding partners of GANAB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CANX