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Entry version 183 (13 Nov 2019)
Sequence version 3 (05 Jul 2004)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by deoxynojirimycin.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei283SubstrateBy similarity1
Binding sitei429SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei542Nucleophile1 Publication1
Binding sitei602SubstrateBy similarity1
Active sitei618Proton donorBy similarity1
Binding sitei676SubstrateBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01658-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.1.84 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-901042 Calnexin/calreticulin cycle

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00957

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH31 Glycoside Hydrolase Family 31

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neutral alpha-glucosidase AB (EC:3.2.1.2071 Publication)
Alternative name(s):
Alpha-glucosidase 2
Glucosidase II subunit alpha1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GANAB1 PublicationImported
Synonyms:G2AN, KIAA0088
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4138 GANAB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
104160 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14697

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077090383T → R in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255642EnsemblClinVar.1
Natural variantiVAR_077091400R → L in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs770519542EnsemblClinVar.1
Natural variantiVAR_077092817R → W in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255643EnsemblClinVar.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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi542D → N: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23193

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GANAB

MalaCards human disease database

More...
MalaCardsi
GANAB
MIMi600666 phenotype
617874 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000089597

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
730 Autosomal dominant polycystic kidney disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28551

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14697

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2519

Drug and drug target database

More...
DrugBanki
DB00491 Miglitol

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GANAB

Domain mapping of disease mutations (DMDM)

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DMDMi
54037162

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 28Sequence analysisAdd BLAST28
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001857129 – 944Neutral alpha-glucosidase ABAdd BLAST916

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi41 ↔ 47By similarity
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei52PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi97N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi633 ↔ 644By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14697

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14697

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14697

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14697

PeptideAtlas

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PeptideAtlasi
Q14697

PRoteomics IDEntifications database

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PRIDEi
Q14697

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
60137 [Q14697-1]
60138 [Q14697-2]
60139 [Q14697-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q14697-1 [Q14697-1]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00383581

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1560 [Q14697-2]

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14697

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q14697

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q14697

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000089597 Expressed in 234 organ(s), highest expression level in right ovary

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14697 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14697 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026874
HPA061426

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116802, 137 interactors

Protein interaction database and analysis system

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IntActi
Q14697, 61 interactors

Molecular INTeraction database

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MINTi
Q14697

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000340466

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q14697

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q14697

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 31 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1066 Eukaryota
COG1501 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159139

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14697

KEGG Orthology (KO)

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KOi
K05546

Identification of Orthologs from Complete Genome Data

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OMAi
NRTWSIA

Database of Orthologous Groups

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OrthoDBi
100626at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14697

TreeFam database of animal gene trees

More...
TreeFami
TF300337

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.1180, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13802 Gal_mutarotas_2, 1 hit
PF01055 Glyco_hydro_31, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51445 SSF51445, 1 hit
SSF74650 SSF74650, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00129 GLYCOSYL_HYDROL_F31_1, 1 hit
PS00707 GLYCOSYL_HYDROL_F31_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6X6F5H6X6_HUMAN
Neutral alpha-glucosidase AB
GANAB
847Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PNH1E9PNH1_HUMAN
Neutral alpha-glucosidase AB
GANAB
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQ69E9PQ69_HUMAN
Neutral alpha-glucosidase AB
GANAB
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti400R → C in AAH65266 (PubMed:15489334).Curated1
Sequence conflicti461R → W in AAH65266 (PubMed:15489334).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 PublicationCorresponds to variant dbSNP:rs1392032530Ensembl.1
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:rs879255642EnsemblClinVar.1
Natural variantiVAR_077091400R → L in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs770519542EnsemblClinVar.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; dbNP:rs753910059. 1 PublicationCorresponds to variant dbSNP:rs753910059Ensembl.1
Natural variantiVAR_077092817R → W in PKD3; fails to promote PKD1 and PKD2 localization to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs879255643EnsemblClinVar.1
Natural variantiVAR_080921850H → Y3 PublicationsCorresponds to variant dbSNP:rs114915323Ensembl.1
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS41656.1 [Q14697-2]
CCDS8026.1 [Q14697-1]

NCBI Reference Sequences

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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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23193

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23193

UCSC genome browser

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UCSCi
uc001nua.5 human [Q14697-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ14697
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116802, 137 interactors
IntActiQ14697, 61 interactors
MINTiQ14697
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

BioMutaiGANAB
DMDMi54037162

2D gel databases

REPRODUCTION-2DPAGEiIPI00383581

Proteomic databases

EPDiQ14697
jPOSTiQ14697
MassIVEiQ14697
PaxDbiQ14697
PeptideAtlasiQ14697
PRIDEiQ14697
ProteomicsDBi60137 [Q14697-1]
60138 [Q14697-2]
60139 [Q14697-3]
TopDownProteomicsiQ14697-1 [Q14697-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23193

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

Comparative Toxicogenomics Database

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CTDi
23193
DisGeNETi23193

GeneCards: human genes, protein and diseases

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GeneCardsi
GANAB
GeneReviewsiGANAB
HGNCiHGNC:4138 GANAB
HPAiHPA026874
HPA061426
MalaCardsiGANAB
MIMi104160 gene
600666 phenotype
617874 phenotype
neXtProtiNX_Q14697
OpenTargetsiENSG00000089597
Orphaneti730 Autosomal dominant polycystic kidney disease
PharmGKBiPA28551

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1066 Eukaryota
COG1501 LUCA
GeneTreeiENSGT00940000159139
InParanoidiQ14697
KOiK05546
OMAiNRTWSIA
OrthoDBi100626at2759
PhylomeDBiQ14697
TreeFamiTF300337

Enzyme and pathway databases

UniPathwayiUPA00957
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GANAB human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GANAB

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23193
PharosiQ14697

Protein Ontology

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PROi
PR:Q14697

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000089597 Expressed in 234 organ(s), highest expression level in right ovary
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, 1 hit
PROSITEiView protein in PROSITE
PS00129 GLYCOSYL_HYDROL_F31_1, 1 hit
PS00707 GLYCOSYL_HYDROL_F31_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGANAB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14697
Secondary accession number(s): A6NC20, Q8WTS9, Q9P0X0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: July 5, 2004
Last modified: November 13, 2019
This is version 183 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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