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Protein

Neutral alpha-glucosidase AB

Gene

GANAB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

Pathwayi: N-glycan metabolism

This protein is involved in the pathway N-glycan metabolism, which is part of Glycan metabolism.
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
Active sitei542Nucleophile1
Active sitei545By similarity1
Active sitei618Proton donorBy similarity1

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BRENDAi3.2.1.84. 2681.
ReactomeiR-HSA-532668. N-glycan trimming in the ER and Calnexin/Calreticulin cycle.
R-HSA-901042. Calnexin/calreticulin cycle.
UniPathwayiUPA00957.

Protein family/group databases

CAZyiGH31. Glycoside Hydrolase Family 31.

Names & Taxonomyi

Protein namesi
Recommended name:
Neutral alpha-glucosidase AB (EC:3.2.1.84)
Alternative name(s):
Alpha-glucosidase 2
Glucosidase II subunit alpha
Gene namesi
Name:GANAB
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.

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 (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 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

Mutagenesis

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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23193.
MIMi600666. 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
Modified residuei52PhosphoserineCombined sources1
Glycosylationi97N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ14697.
PaxDbiQ14697.
PeptideAtlasiQ14697.
PRIDEiQ14697.
TopDownProteomicsiQ14697-1. [Q14697-1]

2D gel databases

REPRODUCTION-2DPAGEiIPI00383581.

PTM databases

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.
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). Binds glycosylated PTPRC (By similarity).By similarity

Protein-protein interaction databases

BioGridi116802. 106 interactors.
CORUMiQ14697.
IntActiQ14697. 52 interactors.
MINTiMINT-5001279.
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

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.
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

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

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 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

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

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: September 27, 2017
This is version 162 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. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. SIMILARITY comments
    Index of protein domains and families