Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q14697

- GANAB_HUMAN

UniProt

Q14697 - GANAB_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Neutral alpha-glucosidase AB

Gene

GANAB

Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

Catalytic activityi

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

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei542 – 5421Nucleophile
Active sitei545 – 5451By similarity
Active sitei618 – 6181Proton donorBy similarity

GO - Molecular functioni

  1. carbohydrate binding Source: InterPro
  2. glucan 1,3-alpha-glucosidase activity Source: UniProtKB-EC
  3. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. post-translational protein modification Source: Reactome
  3. protein folding Source: Reactome
  4. protein N-linked glycosylation via asparagine Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BRENDAi3.2.1.84. 2681.
ReactomeiREACT_23810. Calnexin/calreticulin cycle.
REACT_23878. N-glycan trimming in the ER and 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:4138. GANAB.

Subcellular locationi

Endoplasmic reticulum By similarity. Golgi apparatus By similarity. Melanosome 2 Publications
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

GO - Cellular componenti

  1. endoplasmic reticulum lumen Source: Reactome
  2. extracellular vesicular exosome Source: UniProtKB
  3. glucosidase II complex Source: Ensembl
  4. Golgi apparatus Source: UniProtKB-KW
  5. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi542 – 5421D → N: Loss of activity. 1 Publication

Organism-specific databases

PharmGKBiPA28551.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828Sequence AnalysisAdd
BLAST
Chaini29 – 944916Neutral alpha-glucosidase ABPRO_0000018571Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi97 – 971N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ14697.
PaxDbiQ14697.
PRIDEiQ14697.

2D gel databases

REPRODUCTION-2DPAGEIPI00383581.

PTM databases

PhosphoSiteiQ14697.

Expressioni

Tissue specificityi

Detected in placenta.1 Publication

Gene expression databases

BgeeiQ14697.
CleanExiHS_GANAB.
ExpressionAtlasiQ14697. baseline and differential.
GenevestigatoriQ14697.

Organism-specific databases

HPAiHPA026874.

Interactioni

Subunit structurei

Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ELF3P785451EBI-348004,EBI-1057285
PRRC2AP486341EBI-348004,EBI-347545
TRAF6Q9Y4K31EBI-348004,EBI-359276

Protein-protein interaction databases

BioGridi116802. 65 interactions.
IntActiQ14697. 17 interactions.
MINTiMINT-5001279.
STRINGi9606.ENSP00000340466.

Structurei

3D structure databases

ProteinModelPortaliQ14697.
SMRiQ14697. Positions 239-911.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 31 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG1501.
GeneTreeiENSGT00760000119229.
HOVERGENiHBG051683.
InParanoidiQ14697.
KOiK05546.
OMAiAIDDQLY.
OrthoDBiEOG7VQJDS.
PhylomeDBiQ14697.
TreeFamiTF300337.

Family and domain databases

InterProiIPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 1 hit.
SSF74650. SSF74650. 2 hits.
PROSITEiPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
PS00707. GLYCOSYL_HYDROL_F31_2. 1 hit.
[Graphical view]

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. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti400 – 4001R → C in AAH65266. (PubMed:15489334)Curated
Sequence conflicti461 – 4611R → W in AAH65266. (PubMed:15489334)Curated
Sequence conflicti850 – 8501H → Y in CAA04006. 1 PublicationCurated
Sequence conflicti850 – 8501H → Y in BAA07642. (PubMed:7788527)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti154 – 1541R → W.
Corresponds to variant rs2276296 [ dbSNP | Ensembl ].
VAR_024529
Natural varianti173 – 1731R → Q.
Corresponds to variant rs2276295 [ dbSNP | Ensembl ].
VAR_022086
Natural varianti309 – 3091R → C.
Corresponds to variant rs1063445 [ dbSNP | Ensembl ].
VAR_050272

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei49 – 524RQRS → CCWC in isoform 3. 1 PublicationVSP_039976
Alternative sequencei53 – 944892Missing in isoform 3. 1 PublicationVSP_039977Add
BLAST
Alternative sequencei187 – 1871S → SFSDKVNLTLGSIWDKIKNL FSR in isoform 2. 1 PublicationVSP_010674

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.4. human. [Q14697-2]
uc001nub.4. human. [Q14697-1]

Polymorphism databases

DMDMi54037162.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSi CCDS41656.1. [Q14697-2 ]
CCDS8026.1. [Q14697-1 ]
RefSeqi NP_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 ]
UniGenei Hs.595071.

3D structure databases

ProteinModelPortali Q14697.
SMRi Q14697. Positions 239-911.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116802. 65 interactions.
IntActi Q14697. 17 interactions.
MINTi MINT-5001279.
STRINGi 9606.ENSP00000340466.

Chemistry

BindingDBi Q14697.
ChEMBLi CHEMBL2519.
DrugBanki DB00491. Miglitol.

Protein family/group databases

CAZyi GH31. Glycoside Hydrolase Family 31.

PTM databases

PhosphoSitei Q14697.

Polymorphism databases

DMDMi 54037162.

2D gel databases

REPRODUCTION-2DPAGE IPI00383581.

Proteomic databases

MaxQBi Q14697.
PaxDbi Q14697.
PRIDEi Q14697.

Protocols and materials databases

DNASUi 23193.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000346178 ; ENSP00000340466 ; ENSG00000089597 . [Q14697-2 ]
ENST00000356638 ; ENSP00000349053 ; ENSG00000089597 . [Q14697-1 ]
ENST00000526210 ; ENSP00000433799 ; ENSG00000089597 . [Q14697-3 ]
ENST00000532402 ; ENSP00000432181 ; ENSG00000089597 . [Q14697-3 ]
ENST00000534613 ; ENSP00000434921 ; ENSG00000089597 . [Q14697-3 ]
GeneIDi 23193.
KEGGi hsa:23193.
UCSCi uc001nua.4. human. [Q14697-2 ]
uc001nub.4. human. [Q14697-1 ]

Organism-specific databases

CTDi 23193.
GeneCardsi GC11M062481.
HGNCi HGNC:4138. GANAB.
HPAi HPA026874.
MIMi 104160. gene.
neXtProti NX_Q14697.
PharmGKBi PA28551.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1501.
GeneTreei ENSGT00760000119229.
HOVERGENi HBG051683.
InParanoidi Q14697.
KOi K05546.
OMAi AIDDQLY.
OrthoDBi EOG7VQJDS.
PhylomeDBi Q14697.
TreeFami TF300337.

Enzyme and pathway databases

UniPathwayi UPA00957 .
BRENDAi 3.2.1.84. 2681.
Reactomei REACT_23810. Calnexin/calreticulin cycle.
REACT_23878. N-glycan trimming in the ER and Calnexin/Calreticulin cycle.

Miscellaneous databases

ChiTaRSi GANAB. human.
GeneWikii GANAB.
GenomeRNAii 23193.
NextBioi 44685.
PROi Q14697.
SOURCEi Search...

Gene expression databases

Bgeei Q14697.
CleanExi HS_GANAB.
ExpressionAtlasi Q14697. baseline and differential.
Genevestigatori Q14697.

Family and domain databases

InterProi IPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view ]
Pfami PF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
[Graphical view ]
SUPFAMi SSF51445. SSF51445. 1 hit.
SSF74650. SSF74650. 2 hits.
PROSITEi PS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
PS00707. GLYCOSYL_HYDROL_F31_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Sequence and analysis of the endoplasmic reticulum protein glucosidase II."
    Stuerzenhofecker B., Nguyenvan P., Soeling H.D.
    Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo."
    Pelletier M.F., Marcil A., Sevigny G., Jakob C.A., Tessier D.C., Chevet E., Menard R., Bergeron J.J.M., Thomas D.Y.
    Glycobiology 10:815-827(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, MUTAGENESIS OF ASP-542, INTERACTION WITH PRKCSH, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1."
    Nagase T., Miyajima N., Tanaka A., Sazuka T., Seki N., Sato S., Tabata S., Ishikawa K., Kawarabayasi Y., Kotani H., Nomura N.
    DNA Res. 2:37-43(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-944 (ISOFORM 1).
    Tissue: Bone marrow.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 457-944 (ISOFORMS 1/2).
    Tissue: Lymph and Uterus.
  6. Lubec G., Afjehi-Sadat L.
    Submitted (MAR-2007) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 915-929, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain and Cajal-Retzius cell.
  7. "Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies."
    Martiniuk F., Ellenbogen A., Hirschhorn R.
    J. Biol. Chem. 260:1238-1242(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION, TISSUE SPECIFICITY.
  8. "Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit."
    Trombetta E.S., Simons J.F., Helenius A.
    J. Biol. Chem. 271:27509-27516(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PRKCSH.
  9. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGANAB_HUMAN
AccessioniPrimary (citable) accession number: Q14697
Secondary accession number(s): A6NC20, Q8WTS9, Q9P0X0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: July 5, 2004
Last modified: November 26, 2014
This is version 132 of the entry and version 3 of the sequence. [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

External Data

Dasty 3