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GBAP1 Gene

pseudogene   GIFtS: 22
GCID: GC01M155183

Glucosidase, Beta, Acid Pseudogene 1

(Previous names: glucosidase, beta; acid, pseudogene)
(Previous symbol: GBAP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucosidase, Beta, Acid Pseudogene 11 2
GBAP1 2
Glucosidase, Beta; Acid, Pseudogene1

External Ids:    HGNC: 41781   Entrez Gene: 26302   Ensembl: ENSG000001607667   

Export aliases for GBAP1 gene to outside databases

Previous GC identifer: GC01M126547


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GBAP1 Gene:
GBAP1 (glucosidase, beta, acid pseudogene 1) is a pseudogene.

Gene Wiki entry for GBAP1 (GBAP) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for GBAP1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 1q22

GBAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBAP1 gene location

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-,NW_003315906 18,853-32,558     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GBAP1
Interactions:

    Search GeneGlobe Interaction Network for GBAP1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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9 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
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GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GBAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
GBAP1 Expression
About this image


GBAP1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Trophoblast (Extraembryonic Tissues)
         Mural Trophectoderm Cells Mural Trophectoderm
GBAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GBAP1 Protein Expression
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In Situ
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(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)
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  --

ENSEMBL Gene Tree for GBAP1 (if available)
TreeFam Gene Tree for GBAP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GBAP1 (see all 199)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1379539891,2
C,F--155184367(+) TTTAGG/CACGAC 1 -- nc-transcript-variant1Minor allele frequency- C:0.02EU 592
rs2002078871,2
F--155184381(+) AACAGG/CAGAGC 1 -- nc-transcript-variant1Minor allele frequency- C:0.00EU 589
rs1428101361,2
C--155184391(+) CCATCA/GGGATG 1 -- nc-transcript-variant0--------
rs1460906501,2
C--155184412(+) ACTGCA/GTCCGG 1 -- nc-transcript-variant0--------
rs1917422211,2
--155184425(+) CGTTCG/TTCTGA 1 -- nc-transcript-variant0--------
rs1818759121,2
--155184553(+) CCCACA/GGACCC 1 -- int10--------
rs1863696381,2
--155184627(+) CTGACA/CCTGCT 1 -- int10--------
rs1457964151,2
C,F--155184891(+) CGTGTG/CCTTGG 1 -- nc-transcript-variant1Minor allele frequency- C:0.01EU 589
rs1485652851,2
--155184921(+) TTCCAC/GTCGGT 1 -- nc-transcript-variant0--------
rs1400812121,2
C--155184975(+) GGCAAA/GGAGAC 1 -- int10--------

HapMap Linkage Disequilibrium report for GBAP1 (155183616 - 155197325 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for GBAP1 (see all 15):    About this table    
Variant IDTypeSubtypePubMed ID
esv2421617CNV Duplication20811451
nsv436038CNV Insertion17901297
nsv2988CNV Insertion18451855
dgv3n68CNV Loss17160897
nsv464084CNV Loss19166990
nsv470741CNV Loss18288195
nsv872457CNV Loss21882294
esv28935CNV Gain19812545
nsv527682CNV Gain19592680
nsv514011CNV Gain21397061

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(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.)
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  --

(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)
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PubMed articles for GBAP1 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with GBAP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)1 Okada Y....Tanaka T. (Nat. Genet. 2012)
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene. (PubMed id 12180141)1 MartA-nez-Arias R....Comas D. (DNA Seq. 2002)
  5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. Sequence variability of a human pseudogene. (PubMed id 11381033)1 MartA-nez-Arias R....Bertranpetit J. (Genome Res. 2001)
  7. 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. (Genome Res. 1997)
  8. Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. (PubMed id 8751878)1 Tayebi N....Sidransky E. (Am. J. Hum. Genet. 1996)
  9. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. (PubMed id 8294033)1 Imai K....Ginns E.I. (Gene 1993)
  10. Polymorphisms in the human glucocerebrosidase gene. (PubMed id 1572652)1 Beutler E.... Gelbart T. (Genomics 1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2630 HGNC: 4178 Ensembl:ENSG00000160766 euGenes: HUgn2630 ECgene: GBAP1
H-InvDB: GBAP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for GBAP1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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