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Protein

Neutral alpha-glucosidase AB

Gene

GANAB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc2Man9GlcNAc2 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).2 Publications

Catalytic activityi

Hydrolysis of terminal (1->3)-alpha-D-glucosidic links in (1->3)-alpha-D-glucans.1 Publication

Activity regulationi

Inhibited by deoxynojirimycin.1 Publication

Pathwayi: N-glycan metabolism

This protein is involved in the pathway N-glycan metabolism, which is part of Glycan metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway N-glycan metabolism and in Glycan metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei283SubstrateBy similarity1
Binding sitei429SubstrateBy similarity1
Active sitei542Nucleophile1 Publication1
Binding sitei602SubstrateBy similarity1
Active sitei618Proton donorBy similarity1
Binding sitei676SubstrateBy similarity1

GO - Molecular functioni

  • carbohydrate binding Source: InterPro
  • glucan 1,3-alpha-glucosidase activity Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS01658-MONOMER
BRENDAi3.2.1.84 2681
ReactomeiR-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-901042 Calnexin/calreticulin cycle
UniPathwayi
UPA00957

Protein family/group databases

CAZyiGH31 Glycoside Hydrolase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Neutral alpha-glucosidase AB (EC:3.2.1.841 Publication)
Alternative name(s):
Alpha-glucosidase 2
Glucosidase II subunit alpha1 Publication
Gene namesi
Name:GANAB1 PublicationImported
Synonyms:G2AN, KIAA0088
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000089597.16
HGNCiHGNC:4138 GANAB
MIMi104160 gene
neXtProtiNX_Q14697

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Polycystic kidney disease 3 with or without polycystic liver disease (PKD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600666
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077090383T → R in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255642Ensembl.1
Natural variantiVAR_077091400R → L in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs770519542Ensembl.1
Natural variantiVAR_077092817R → W in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255643Ensembl.1
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 ALG8.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi542D → N: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23193
MalaCardsiGANAB
MIMi600666 phenotype
617874 phenotype
OpenTargetsiENSG00000089597
PharmGKBiPA28551

Chemistry databases

ChEMBLiCHEMBL2519
DrugBankiDB00491 Miglitol

Polymorphism and mutation databases

DMDMi54037162

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000001857129 – 944Neutral alpha-glucosidase ABAdd BLAST916

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi41 ↔ 47By similarity
Modified residuei52PhosphoserineCombined sources1
Glycosylationi97N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi633 ↔ 644By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ14697
PaxDbiQ14697
PeptideAtlasiQ14697
PRIDEiQ14697
ProteomicsDBi60137
60138 [Q14697-2]
60139 [Q14697-3]
TopDownProteomicsiQ14697-1 [Q14697-1]

2D gel databases

REPRODUCTION-2DPAGEiIPI00383581

PTM databases

GlyConnecti1560 [Q14697-2]
iPTMnetiQ14697
PhosphoSitePlusiQ14697
SwissPalmiQ14697

Expressioni

Tissue specificityi

Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053).2 Publications

Gene expression databases

BgeeiENSG00000089597 Expressed in 234 organ(s), highest expression level in right ovary
CleanExiHS_GANAB
ExpressionAtlasiQ14697 baseline and differential
GenevisibleiQ14697 HS

Organism-specific databases

HPAiHPA026874
HPA061426

Interactioni

Subunit structurei

Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH) (PubMed:10929008). Binds glycosylated PTPRC (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi116802, 115 interactors
CORUMiQ14697
IntActiQ14697, 44 interactors
STRINGi9606.ENSP00000340466

Chemistry databases

BindingDBiQ14697

Structurei

3D structure databases

ProteinModelPortaliQ14697
SMRiQ14697
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 31 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1066 Eukaryota
COG1501 LUCA
GeneTreeiENSGT00760000119229
HOVERGENiHBG051683
InParanoidiQ14697
KOiK05546
OMAiTVHQPLW
OrthoDBiEOG091G01CC
PhylomeDBiQ14697
TreeFamiTF300337

Family and domain databases

Gene3Di2.60.40.1180, 2 hits
InterProiView protein in InterPro
IPR011013 Gal_mutarotase_sf_dom
IPR000322 Glyco_hydro_31
IPR030458 Glyco_hydro_31_AS
IPR030459 Glyco_hydro_31_CS
IPR025887 Glyco_hydro_31_N_dom
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
PfamiView protein in Pfam
PF13802 Gal_mutarotas_2, 1 hit
PF01055 Glyco_hydro_31, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit
SSF74650 SSF74650, 2 hits
PROSITEiView protein in PROSITE
PS00129 GLYCOSYL_HYDROL_F31_1, 1 hit
PS00707 GLYCOSYL_HYDROL_F31_2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14697-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAVAAVAAR RRRSWASLVL AFLGVCLGIT LAVDRSNFKT CEESSFCKRQ
60 70 80 90 100
RSIRPGLSPY RALLDSLQLG PDSLTVHLIH EVTKVLLVLE LQGLQKNMTR
110 120 130 140 150
FRIDELEPRR PRYRVPDVLV ADPPIARLSV SGRDENSVEL TMAEGPYKII
160 170 180 190 200
LTARPFRLDL LEDRSLLLSV NARGLLEFEH QRAPRVSQGS KDPAEGDGAQ
210 220 230 240 250
PEETPRDGDK PEETQGKAEK DEPGAWEETF KTHSDSKPYG PMSVGLDFSL
260 270 280 290 300
PGMEHVYGIP EHADNLRLKV TEGGEPYRLY NLDVFQYELY NPMALYGSVP
310 320 330 340 350
VLLAHNPHRD LGIFWLNAAE TWVDISSNTA GKTLFGKMMD YLQGSGETPQ
360 370 380 390 400
TDVRWMSETG IIDVFLLLGP SISDVFRQYA SLTGTQALPP LFSLGYHQSR
410 420 430 440 450
WNYRDEADVL EVDQGFDDHN LPCDVIWLDI EHADGKRYFT WDPSRFPQPR
460 470 480 490 500
TMLERLASKR RKLVAIVDPH IKVDSGYRVH EELRNLGLYV KTRDGSDYEG
510 520 530 540 550
WCWPGSAGYP DFTNPTMRAW WANMFSYDNY EGSAPNLFVW NDMNEPSVFN
560 570 580 590 600
GPEVTMLKDA QHYGGWEHRD VHNIYGLYVH MATADGLRQR SGGMERPFVL
610 620 630 640 650
ARAFFAGSQR FGAVWTGDNT AEWDHLKISI PMCLSLGLVG LSFCGADVGG
660 670 680 690 700
FFKNPEPELL VRWYQMGAYQ PFFRAHAHLD TGRREPWLLP SQHNDIIRDA
710 720 730 740 750
LGQRYSLLPF WYTLLYQAHR EGIPVMRPLW VQYPQDVTTF NIDDQYLLGD
760 770 780 790 800
ALLVHPVSDS GAHGVQVYLP GQGEVWYDIQ SYQKHHGPQT LYLPVTLSSI
810 820 830 840 850
PVFQRGGTIV PRWMRVRRSS ECMKDDPITL FVALSPQGTA QGELFLDDGH
860 870 880 890 900
TFNYQTRQEF LLRRFSFSGN TLVSSSADPE GHFETPIWIE RVVIIGAGKP
910 920 930 940
AAVVLQTKGS PESRLSFQHD PETSVLVLRK PGINVASDWS IHLR
Length:944
Mass (Da):106,874
Last modified:July 5, 2004 - v3
Checksum:i9E3426FE9A016BF1
GO
Isoform 2 (identifier: Q14697-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     187-187: S → SFSDKVNLTLGSIWDKIKNLFSR

Show »
Length:966
Mass (Da):109,438
Checksum:iD0CD9E47C8E88FB5
GO
Isoform 3 (identifier: Q14697-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     49-52: RQRS → CCWC
     53-944: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:52
Mass (Da):5,673
Checksum:i012B4BAD808BCD74
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKU7E9PKU7_HUMAN
Neutral alpha-glucosidase AB
GANAB
852Annotation score:
F5H6X6F5H6X6_HUMAN
Neutral alpha-glucosidase AB
GANAB
847Annotation score:
E9PQ69E9PQ69_HUMAN
Neutral alpha-glucosidase AB
GANAB
76Annotation score:
E9PNH1E9PNH1_HUMAN
Neutral alpha-glucosidase AB
GANAB
119Annotation score:

Sequence cautioni

The sequence AAH65266 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti400R → C in AAH65266 (PubMed:15489334).Curated1
Sequence conflicti461R → W in AAH65266 (PubMed:15489334).Curated1
Sequence conflicti850H → Y in CAA04006 (Ref. 1) Curated1
Sequence conflicti850H → Y in BAA07642 (PubMed:7788527).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07708895Q → R Probable neutral polymorphism; no effect on PKD1 and PKD2 localization to the cell surface. 1 Publication1
Natural variantiVAR_024529154R → W. Corresponds to variant dbSNP:rs2276296Ensembl.1
Natural variantiVAR_022086173R → Q. Corresponds to variant dbSNP:rs2276295Ensembl.1
Natural variantiVAR_077089232T → A Probable neutral polymorphism; no effect on PKD1 and PKD2 localization to the cell surface. 1 Publication1
Natural variantiVAR_050272309R → C Probable neutral polymorphism; no effect on PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs1063445Ensembl.1
Natural variantiVAR_077090383T → R in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255642Ensembl.1
Natural variantiVAR_077091400R → L in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs770519542Ensembl.1
Natural variantiVAR_080920785H → N Found in a patient affected by polycystic liver disease; unknown pathological significance; the patient carried additional PKHD1 variant; the mutation results in significantly reduced alpha-glucosidase activity. 1 Publication1
Natural variantiVAR_077092817R → W in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255643Ensembl.1
Natural variantiVAR_080921850H → Y1 Publication1
Natural variantiVAR_080922918 – 944Missing Found in a patient affected by polycystic liver disease; unknown pathological significance. 1 PublicationAdd BLAST27

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03997649 – 52RQRS → CCWC in isoform 3. 1 Publication4
Alternative sequenceiVSP_03997753 – 944Missing in isoform 3. 1 PublicationAdd BLAST892
Alternative sequenceiVSP_010674187S → SFSDKVNLTLGSIWDKIKNL FSR in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000332 mRNA Translation: CAA04006.1
AF144074 mRNA Translation: AAF66685.1
AP001458 Genomic DNA No translation available.
D42041 mRNA Translation: BAA07642.1
BC017433 mRNA Translation: AAH17433.2
BC017435 mRNA Translation: AAH17435.2
BC065266 mRNA Translation: AAH65266.1 Sequence problems.
CCDSiCCDS41656.1 [Q14697-2]
CCDS8026.1 [Q14697-1]
RefSeqiNP_001265121.1, NM_001278192.1
NP_001265122.1, NM_001278193.1
NP_001265123.1, NM_001278194.1
NP_938148.1, NM_198334.2 [Q14697-1]
NP_938149.2, NM_198335.3 [Q14697-2]
UniGeneiHs.595071

Genome annotation databases

EnsembliENST00000346178; ENSP00000340466; ENSG00000089597 [Q14697-2]
ENST00000356638; ENSP00000349053; ENSG00000089597 [Q14697-1]
ENST00000526210; ENSP00000433799; ENSG00000089597 [Q14697-3]
ENST00000532402; ENSP00000432181; ENSG00000089597 [Q14697-3]
ENST00000534613; ENSP00000434921; ENSG00000089597 [Q14697-3]
GeneIDi23193
KEGGihsa:23193
UCSCiuc001nua.5 human [Q14697-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000332 mRNA Translation: CAA04006.1
AF144074 mRNA Translation: AAF66685.1
AP001458 Genomic DNA No translation available.
D42041 mRNA Translation: BAA07642.1
BC017433 mRNA Translation: AAH17433.2
BC017435 mRNA Translation: AAH17435.2
BC065266 mRNA Translation: AAH65266.1 Sequence problems.
CCDSiCCDS41656.1 [Q14697-2]
CCDS8026.1 [Q14697-1]
RefSeqiNP_001265121.1, NM_001278192.1
NP_001265122.1, NM_001278193.1
NP_001265123.1, NM_001278194.1
NP_938148.1, NM_198334.2 [Q14697-1]
NP_938149.2, NM_198335.3 [Q14697-2]
UniGeneiHs.595071

3D structure databases

ProteinModelPortaliQ14697
SMRiQ14697
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116802, 115 interactors
CORUMiQ14697
IntActiQ14697, 44 interactors
STRINGi9606.ENSP00000340466

Chemistry databases

BindingDBiQ14697
ChEMBLiCHEMBL2519
DrugBankiDB00491 Miglitol

Protein family/group databases

CAZyiGH31 Glycoside Hydrolase Family 31

PTM databases

GlyConnecti1560 [Q14697-2]
iPTMnetiQ14697
PhosphoSitePlusiQ14697
SwissPalmiQ14697

Polymorphism and mutation databases

DMDMi54037162

2D gel databases

REPRODUCTION-2DPAGEiIPI00383581

Proteomic databases

EPDiQ14697
PaxDbiQ14697
PeptideAtlasiQ14697
PRIDEiQ14697
ProteomicsDBi60137
60138 [Q14697-2]
60139 [Q14697-3]
TopDownProteomicsiQ14697-1 [Q14697-1]

Protocols and materials databases

DNASUi23193
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346178; ENSP00000340466; ENSG00000089597 [Q14697-2]
ENST00000356638; ENSP00000349053; ENSG00000089597 [Q14697-1]
ENST00000526210; ENSP00000433799; ENSG00000089597 [Q14697-3]
ENST00000532402; ENSP00000432181; ENSG00000089597 [Q14697-3]
ENST00000534613; ENSP00000434921; ENSG00000089597 [Q14697-3]
GeneIDi23193
KEGGihsa:23193
UCSCiuc001nua.5 human [Q14697-1]

Organism-specific databases

CTDi23193
DisGeNETi23193
EuPathDBiHostDB:ENSG00000089597.16
GeneCardsiGANAB
HGNCiHGNC:4138 GANAB
HPAiHPA026874
HPA061426
MalaCardsiGANAB
MIMi104160 gene
600666 phenotype
617874 phenotype
neXtProtiNX_Q14697
OpenTargetsiENSG00000089597
PharmGKBiPA28551
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1066 Eukaryota
COG1501 LUCA
GeneTreeiENSGT00760000119229
HOVERGENiHBG051683
InParanoidiQ14697
KOiK05546
OMAiTVHQPLW
OrthoDBiEOG091G01CC
PhylomeDBiQ14697
TreeFamiTF300337

Enzyme and pathway databases

UniPathwayi
UPA00957

BioCyciMetaCyc:HS01658-MONOMER
BRENDAi3.2.1.84 2681
ReactomeiR-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-901042 Calnexin/calreticulin cycle

Miscellaneous databases

ChiTaRSiGANAB human
GeneWikiiGANAB
GenomeRNAii23193
PROiPR:Q14697
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000089597 Expressed in 234 organ(s), highest expression level in right ovary
CleanExiHS_GANAB
ExpressionAtlasiQ14697 baseline and differential
GenevisibleiQ14697 HS

Family and domain databases

Gene3Di2.60.40.1180, 2 hits
InterProiView protein in InterPro
IPR011013 Gal_mutarotase_sf_dom
IPR000322 Glyco_hydro_31
IPR030458 Glyco_hydro_31_AS
IPR030459 Glyco_hydro_31_CS
IPR025887 Glyco_hydro_31_N_dom
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
PfamiView protein in Pfam
PF13802 Gal_mutarotas_2, 1 hit
PF01055 Glyco_hydro_31, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit
SSF74650 SSF74650, 2 hits
PROSITEiView protein in PROSITE
PS00129 GLYCOSYL_HYDROL_F31_1, 1 hit
PS00707 GLYCOSYL_HYDROL_F31_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGANAB_HUMAN
AccessioniPrimary (citable) accession number: Q14697
Secondary accession number(s): A6NC20, Q8WTS9, Q9P0X0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: July 5, 2004
Last modified: October 10, 2018
This is version 173 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  3. SIMILARITY comments
    Index of protein domains and families
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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