|
|
glucosidase, beta, acid pseudogene 1(Previous names: glucosidase, beta; acid, pseudogene )
(Previous symbol: GBAP)
| |
Aliases
for GBAP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Glucosidase, Beta, Acid Pseudogene 11 2 | | GBAP1 2 | | Glucosidase, Beta; Acid, Pseudogene1 |
Export aliases for GBAP1 gene to outside databasesPrevious GC identifer: GC01M126547 |
Summaries
for GBAP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Gene Wiki entry for GBAP1 (GBAP)
|
Genomic Views
for GBAP1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for GBAP1
Other transcription factors
Search SABiosciences Chromatin IP Primers for GBAP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GBAP1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q22 HGNC cytogenetic band: 1q22GBAP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M155183: view genomic region
(about GC identifiers)
Start:
|
155,183,616 bp from pter |
End:
|
155,197,325 bp from pter |
Size:
|
13,710 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr1-,PATCHES 155,199,011-155,212,716 |
|
Proteins
for GBAP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB: --
|
Protein
Domains /
Families
for GBAP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
Function
for GBAP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBAP1 |
|
Pathways & Interactions
for GBAP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GBAP1
|
Drugs & Compounds
for GBAP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for GBAP1
Search CenterWatch for drugs/clinical trials and news about GBAP1 
|
Transcripts
for GBAP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
Unigene Cluster for GBAP1: Glucosidase, beta, acid pseudogene 1 Hs.719930 [show with all ESTs]Unigene Representative Sequence: NR_0021889 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000459805 ENST00000486869(uc001fje.4) ENST00000368374(uc001fjf.4)
ENST00000486197 ENST00000473223(uc001fjd.3) ENST00000566701 ENST00000463838(uc021pau.1)
ENST00000462587 ENST00000313929
Additional cDNA sequence: AK295259.1 AK297653.1 BC000349.2 BC030240.1 BC092482.1 D13287.1 DQ786243.1 NR_002188.2 XR_133570.2 24/33 DOTS entries (see all 33): DT.92038757 DT.100736963 DT.119308 DT.449806 DT.100879420 DT.121449577 DT.101967026 DT.92454161 DT.100879413 DT.100879423 DT.95279643 DT.95086958 DT.100879411 DT.100879418 DT.100879415 DT.100879431 DT.121449606 DT.121449636 DT.92454159 DT.95279671 DT.100879426 DT.121449567 DT.121449579 DT.91749412
GeneLoc Exon Structure
|
Expression
for GBAP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GBAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
Genevestigator expression for GBAP1
SOURCE GeneReport for Unigene cluster: Hs.719930
SABiosciences Custom PCR Arrays for GBAP1
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GBAP1
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat GBAP1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GBAP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GBAP1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBAP1 |
Orthologs
for GBAP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
--
ENSEMBL Gene Tree for GBAP1 (if available)
TreeFam Gene Tree for GBAP1 (if available) |
Paralogs
for GBAP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for GBAP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GBAP1 (155183616 - 155197325 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for GBAP1
10 CNVs: 65018 48140 30443 74731 30442 74732 37781 3315 4257 74730 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GBAP1 |
|
Disorders
/ Diseases
for GBAP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GBAP1 for disorders About GeneDecksing
1  disease for GBAP1: About MalaCardsgaucher's disease
Export disorders for GBAP1 gene to outside databases
|
Publications
for GBAP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GBAP1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with GBAP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene. (PubMed id 12180141)1 Martinez-Arias R....Comas D. (2002)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Sequence variability of a human pseudogene. (PubMed id 11381033)1 Martinez-Arias R....Bertranpetit J. (2001)
- Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1 Winfield S.L.... Sidransky E. (1997)
- Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. (PubMed id 8751878)1 Tayebi N....Sidransky E. (1996)
- A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. (PubMed id 8294033)1 Imai K....Ginns E.I. (1993)
- Polymorphisms in the human glucocerebrosidase gene. (PubMed id 1572652)1 Beutler E.... Gelbart T. (1992)
- High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. (PubMed id 1698821)1 Sorge J....Beutler E. (1990)
|
External Searches for GBAP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GBAP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GBAP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GBAP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GBAP1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for GBAP1 gene:
Search GeneIP for patents involving GBAP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GBAP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GBAP1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GBAP1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GBAP1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GBAP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GBAP1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GBAP1 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for GBAP1 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBAP1 |
|  |  |  | | | | Search ThermoFisher Antibodies for GBAP1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GBAP1 |
|
|
|
|
