Aliases &
Descriptions
for GANAB gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| glucosidase, alpha; neutral AB1 2 | | GluII1 | | KIAA00881 2 3 | | GLUII2 | | G2AN1 2 3 | | alpha glucosidase II alpha subunit2 | | Glucosidase II subunit alpha2 3 | | neutral alpha-glucosidase AB2 | | Alpha-glucosidase 22 3 | | EC 3.2.1.843 |
Export aliases for GANAB gene to outside databasesPrevious GC identifers: GC11U990054 GC11M062166 GC11M062148 GC11M062430 |
Summaries
for GANAB gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697Function: Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2)oligosaccharide precursor of immature glycoproteins
Gene Wiki entry for GANAB |
Genomic Views
for GANAB gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GANAB gene promoter:
CUTL1 c-Myb Sp1 C/EBPbeta FAC1 YY1 POU2F1 RP58 NF-1 STAT2
Other transcription factors
Search SABiosciences Chromatin IP Primers for GANAB
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GANAB  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q12.3 Ensembl cytogenetic band: 11q12.3 HGNC cytogenetic band: 11q12.3GANAB Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M058721: view genomic region
(about GC identifiers)
Start:
|
58,721,213 bp from pter |
End:
|
58,743,000 bp from pter |
Size:
|
21,788 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr11- 62,392,300-62,414,104 |
RefSeq DNA sequence:- NC_000011.9 NT_167190.1
|
Proteins
for GANAB gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697 (See
protein sequence)Recommended Name: Neutral alpha-glucosidase AB precursor Size: 944 amino acids; 106874 Da
Subunit: Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (Bysimilarity)
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
Sequence caution: Sequence=AAH65266.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: A6NC20 Q8WTS9 Q9P0X0Alternative splicing: 3 isoforms: Q14697-1 Q14697-2 Q14697-3 Explore the universe of human proteins at neXtProt for GANAB: NX_Q14697
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_938148.1 NP_938149.2
ENSEMBL proteins: ENSP00000340466 ENSP00000349053
Human Recombinant Proteins
5 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
GANAB for ontologies About GeneDecksing
Antibodies for GANAB:
Assays for GANAB: |
Protein
Domains/
Families
for GANAB gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GANAB for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q14697ProtoNet protein and cluster: Q14697 1 Blocks protein family: IPB000322 Glycoside hydrolase
UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697Similarity: Belongs to the glycosyl hydrolase 31 family |
Gene Function
for GANAB gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697Function: Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2)oligosaccharide precursor of immature glycoproteinsCatalytic activity: Hydrolysis of terminal (1->3)-alpha-D-glucosidic links in (1->3)-alpha-D-glucansEnzyme Number (IUBMB): EC 3.2.1.84
Genatlas biochemistry entry for GANAB:glucosidase,alpha-,neutral AB5 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
GANAB for ontologies About GeneDecksing
|
Pathways & Interactions
for GANAB gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
GANAB for pathways About GeneDecksing
3  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for GANAB
3  Kegg Pathways (Kegg details for GANAB):
UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697Pathway: Glycan metabolism; N-glycan metabolism SABiosciences Pathway-Focused PCR Arrays including GANAB: PAHS-046A PAHS-089A
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GANAB
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GANAB
3 Interacting proteins for GANAB (Q146971) via UniProtKB, MINT, and/or STRING About this table
5 Gene Ontology (GO) biological process terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
IEA | -- | | GO:0006457 | protein folding |
EXP | 18303019 | | GO:0018279 | protein N-linked glycosylation via asparagine |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- | | GO:0044267 | cellular protein metabolic process |
TAS | -- |
About this table
GANAB for ontologies About GeneDecksing
|
Drugs & Compounds
for GANAB gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Compounds for GANAB available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Castanospermine | Glucosidases alpha and beta inhibitor | [79831-76-8] | | Acarbose | Glucosidase alpha inhibitor (intestinal) | [56180-94-0] | | Miglustat hydrochloride | Ceramide-specific glycosyltransferase inhibitor. Also inhibits alpha-glucosidase I and II | [72599-27-0] | | 1-Deoxynojirimycin | Glucosidase I and II inhibitor | [19130-96-2] |
About this table
|
Transcripts
for GANAB gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for GANAB gene (2 alternative transcripts): NM_198334.1 NM_198335.2 Additional cDNA sequence: AF144074.1 AJ000332.1 AK026548.1 AK026567.1 AK026997.1 AK295806.1 AK299819.1 AK302752.1 AK314370.1 BC017433.2 BC017435.2 BC034439.1 BC065266.1 CR592838.1 CR604770.1 CR609998.1 CR612897.1 CR622917.1 D42041.1 24/47 DOTS entries (see all 47): DT.100881206 DT.451541 DT.95309026 DT.97818996 DT.95316197 DT.95316278 DT.100881216 DT.100881208 DT.120710090 DT.97786093 DT.92461632 DT.100772264 DT.92461650 DT.86843276 DT.100881204 DT.120710067 DT.120710093 DT.95316179 DT.100731848 DT.100881200 DT.100881209 DT.91825447 DT.120709935 DT.120709978 24/914 AceView cDNA sequences (see all 914): AL708604 AI291493 BG674728 BM562645 AW844983 AI554326 BU845648 BE794130 BQ887085 AW467204 BP364387 BU689446 BU553449 BU627473 CA489386 BQ052775 BF930637 BM819154 BF032347 BM976704 CN481698 AU132254 BQ901028 BM451947
 highest scoring ESTs for GANAB:D42041 AF144074 AJ000332 AK026997 AU127520 AU128103 AU128952 AU130005 AU130711 AU130729 Unigene Cluster for GANAB: Glucosidase, alpha; neutral AB Hs.595071 [show with all ESTs]Unigene Representative Sequence: NM_198335
GeneLoc Exon Structure
5/17 Alternative Splicing Database (ASD) splice patterns (SP) for GANAB (see all 17)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | · | 25c |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for GANAB
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000346178(uc001ntz.2 uc001nua.2 uc001nub.2 uc001nuc.2 uc010rma.1 uc010rmb.1)
ENST00000356638
|
Expression
for GANAB gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| GANAB expression in normal and diseased human tissues
1 / 2 / 3 6 probe-sets matching GANAB gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 37040_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.95 |
0.92 |
D42041 |
1.00 |
1.00 |
1.00 |
1 |
| 58894_f_at2, 3
|
U95-C |
1 |
0.62 |
1.00 |
0.94 |
1.08 |
AW008191 |
0.40 |
1.00 |
0.76 |
1 |
| 214626_s_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
AK026548 |
0.40 |
1.00 |
0.76 |
1 |
| 211934_x_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
W87689 |
0.40 |
1.00 |
0.76 |
1 |
| 214626_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 211934_x_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
GANAB for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TGTGCTCGGG
SOURCE GeneReport for Unigene cluster: Hs.595071
Expression variation in blood from EXPOLDB for GANAB UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697Tissue specificity: Detected in placenta
SABiosciences Expression via Pathway-Focused PCR Arrays including GANAB: PAHS-046A PAHS-089A
|
Orthologs
for GANAB gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GANAB gene from 5/21 species (see all 21)
About this table Species with no ortholog for GANAB
ENSEMBL Gene Tree for GANAB (if available) |
Paralogs
for GANAB gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for GANAB gene
- ENSG000002049872 GAA2 SI2 MGAM2 GANC2
GANAB for paralogs About GeneDecksing
|
Genomic Variants
for GANAB gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 11 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for GANAB (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GANAB
1 CNV: 4749 | | QIAGEN SeqTarget long-range PCR primers for resequencing GANAB |
|
Disorders & Mutations
for GANAB gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GANAB for disorders About GeneDecksing
OMIM: 104160
Export disorders and mutations for GANAB gene to outside databases
|
Medical News
for GANAB gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for GANAB gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/55 PubMed articles for GANAB gene, integrated from 7 sources (see all 55):
(articles sorted by number of sources associating them with GANAB)- Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The alpha- and beta-subunits are required for express ion of catalytic activity in the hetero-dimeric glucosidase II complex from hum an liver. (PubMed id 10764838)1, 3 Treml K....Bause E. (2000)
- The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo. (PubMed id 10929008)1, 2 Pelletier M.F.... Thomas D.Y. (2000)
- Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit. (PubMed id 8910335)1, 2 Trombetta E.S.... Helenius A. (1996)
- 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. (PubMed id 7788527)1, 2 Nagase T....Kotani H. (1995)
- Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. (PubMed id 3881423)1, 2 Martiniuk F.... Hirschhorn R. (1985)
- Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. (PubMed id 6342981)1, 3 Martiniuk F....Hirschhorn R. (1983)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- Correlation between neutral alpha-glucosidase activit y and sperm DNA fragmentation. (PubMed id 19737279)1 Watanabe M....Jeyendran R.S. (2009)
|
External Searches for GANAB gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GANAB gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GANAB gene
(According to HUGE)
About This Section
| |
Specialized Databases showing GANAB gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for GANAB gene:
Search GeneIP for patents involving GANAB
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GANAB gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
 |
| | | |
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| | |
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| |  | Tocris compounds for GANAB |
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