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Q14697 (GANAB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neutral alpha-glucosidase AB

EC=3.2.1.84
Alternative name(s):
Alpha-glucosidase 2
Glucosidase II subunit alpha
Gene names
Name:GANAB
Synonyms:G2AN, KIAA0088
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length944 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc2Man9GlcNAc2 oligosaccharide precursor of immature glycoproteins. Ref.2

Catalytic activity

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

Pathway

Glycan metabolism; N-glycan metabolism.

Subunit structure

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

Subcellular location

Endoplasmic reticulum By similarity. Golgi apparatus By similarity. Melanosome. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Ref.2 Ref.9

Tissue specificity

Detected in placenta. Ref.7

Sequence similarities

Belongs to the glycosyl hydrolase 31 family.

Sequence caution

The sequence AAH65266.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14697-1)

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.
Isoform 2 (identifier: Q14697-2)

The sequence of this isoform differs from the canonical sequence as follows:
     187-187: S → SFSDKVNLTLGSIWDKIKNLFSR
Isoform 3 (identifier: Q14697-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 944916Neutral alpha-glucosidase AB
PRO_0000018571

Sites

Active site5421Nucleophile
Active site5451 By similarity
Active site6181Proton donor By similarity

Amino acid modifications

Glycosylation971N-linked (GlcNAc...)

Natural variations

Alternative sequence49 – 524RQRS → CCWC in isoform 3.
VSP_039976
Alternative sequence53 – 944892Missing in isoform 3.
VSP_039977
Alternative sequence1871S → SFSDKVNLTLGSIWDKIKNL FSR in isoform 2.
VSP_010674
Natural variant1541R → W.
Corresponds to variant rs2276296 [ dbSNP | Ensembl ].
VAR_024529
Natural variant1731R → Q.
Corresponds to variant rs2276295 [ dbSNP | Ensembl ].
VAR_022086
Natural variant3091R → C.
Corresponds to variant rs1063445 [ dbSNP | Ensembl ].
VAR_050272

Experimental info

Mutagenesis5421D → N: Loss of activity. Ref.2
Sequence conflict4001R → C in AAH65266. Ref.5
Sequence conflict4611R → W in AAH65266. Ref.5
Sequence conflict8501H → Y in CAA04006. Ref.1
Sequence conflict8501H → Y in BAA07642. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 3.
Checksum: 9E3426FE9A016BF1

FASTA944106,874
        10         20         30         40         50         60 
MAAVAAVAAR RRRSWASLVL AFLGVCLGIT LAVDRSNFKT CEESSFCKRQ RSIRPGLSPY 

        70         80         90        100        110        120 
RALLDSLQLG PDSLTVHLIH EVTKVLLVLE LQGLQKNMTR FRIDELEPRR PRYRVPDVLV 

       130        140        150        160        170        180 
ADPPIARLSV SGRDENSVEL TMAEGPYKII LTARPFRLDL LEDRSLLLSV NARGLLEFEH 

       190        200        210        220        230        240 
QRAPRVSQGS KDPAEGDGAQ PEETPRDGDK PEETQGKAEK DEPGAWEETF KTHSDSKPYG 

       250        260        270        280        290        300 
PMSVGLDFSL PGMEHVYGIP EHADNLRLKV TEGGEPYRLY NLDVFQYELY NPMALYGSVP 

       310        320        330        340        350        360 
VLLAHNPHRD LGIFWLNAAE TWVDISSNTA GKTLFGKMMD YLQGSGETPQ TDVRWMSETG 

       370        380        390        400        410        420 
IIDVFLLLGP SISDVFRQYA SLTGTQALPP LFSLGYHQSR WNYRDEADVL EVDQGFDDHN 

       430        440        450        460        470        480 
LPCDVIWLDI EHADGKRYFT WDPSRFPQPR TMLERLASKR RKLVAIVDPH IKVDSGYRVH 

       490        500        510        520        530        540 
EELRNLGLYV KTRDGSDYEG WCWPGSAGYP DFTNPTMRAW WANMFSYDNY EGSAPNLFVW 

       550        560        570        580        590        600 
NDMNEPSVFN GPEVTMLKDA QHYGGWEHRD VHNIYGLYVH MATADGLRQR SGGMERPFVL 

       610        620        630        640        650        660 
ARAFFAGSQR FGAVWTGDNT AEWDHLKISI PMCLSLGLVG LSFCGADVGG FFKNPEPELL 

       670        680        690        700        710        720 
VRWYQMGAYQ PFFRAHAHLD TGRREPWLLP SQHNDIIRDA LGQRYSLLPF WYTLLYQAHR 

       730        740        750        760        770        780 
EGIPVMRPLW VQYPQDVTTF NIDDQYLLGD ALLVHPVSDS GAHGVQVYLP GQGEVWYDIQ 

       790        800        810        820        830        840 
SYQKHHGPQT LYLPVTLSSI PVFQRGGTIV PRWMRVRRSS ECMKDDPITL FVALSPQGTA 

       850        860        870        880        890        900 
QGELFLDDGH TFNYQTRQEF LLRRFSFSGN TLVSSSADPE GHFETPIWIE RVVIIGAGKP 

       910        920        930        940 
AAVVLQTKGS PESRLSFQHD PETSVLVLRK PGINVASDWS IHLR 

« Hide

Isoform 2 [UniParc].

Checksum: D0CD9E47C8E88FB5
Show »

FASTA966109,438
Isoform 3 [UniParc].

Checksum: 012B4BAD808BCD74
Show »

FASTA525,673

References

« Hide 'large scale' references
[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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.
J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Melanoma.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001265121.1. NM_001278192.1.
NP_001265122.1. NM_001278193.1.
NP_001265123.1. NM_001278194.1.
NP_938148.1. NM_198334.2.
NP_938149.2. NM_198335.3.
UniGeneHs.595071.

3D structure databases

ProteinModelPortalQ14697.
SMRQ14697. Positions 38-943.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116802. 62 interactions.
IntActQ14697. 17 interactions.
MINTMINT-5001279.
STRING9606.ENSP00000340466.

Chemistry

BindingDBQ14697.
ChEMBLCHEMBL2519.

Protein family/group databases

CAZyGH31. Glycoside Hydrolase Family 31.

PTM databases

PhosphoSiteQ14697.

Polymorphism databases

DMDM54037162.

2D gel databases

REPRODUCTION-2DPAGEIPI00383581.

Proteomic databases

PaxDbQ14697.
PRIDEQ14697.

Protocols and materials databases

DNASU23193.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000346178; ENSP00000340466; ENSG00000089597. [Q14697-2]
ENST00000356638; ENSP00000349053; ENSG00000089597. [Q14697-1]
ENST00000526210; ENSP00000433799; ENSG00000089597. [Q14697-3]
ENST00000532402; ENSP00000432181; ENSG00000089597. [Q14697-3]
ENST00000534613; ENSP00000434921; ENSG00000089597. [Q14697-3]
GeneID23193.
KEGGhsa:23193.
UCSCuc001nua.4. human. [Q14697-2]
uc001nub.4. human. [Q14697-1]

Organism-specific databases

CTD23193.
GeneCardsGC11M062430.
HGNCHGNC:4138. GANAB.
HPAHPA026874.
MIM104160. gene.
neXtProtNX_Q14697.
PharmGKBPA28551.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1501.
HOVERGENHBG051683.
KOK05546.
OMAAIDDQLY.
OrthoDBEOG7VQJDS.
PhylomeDBQ14697.
TreeFamTF300337.

Enzyme and pathway databases

BRENDA3.2.1.84. 2681.
ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00957.

Gene expression databases

ArrayExpressQ14697.
BgeeQ14697.
CleanExHS_GANAB.
GenevestigatorQ14697.

Family and domain databases

InterProIPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamPF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
[Graphical view]
SUPFAMSSF51445. SSF51445. 1 hit.
SSF74650. SSF74650. 2 hits.
PROSITEPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
PS00707. GLYCOSYL_HYDROL_F31_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGANAB. human.
GeneWikiGANAB.
GenomeRNAi23193.
NextBio44685.
PROQ14697.
SOURCESearch...

Entry information

Entry nameGANAB_HUMAN
AccessionPrimary (citable) accession number: Q14697
Secondary accession number(s): A6NC20, Q8WTS9, Q9P0X0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 125 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries