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Aliases for GBAP1 Gene

Aliases for GBAP1 Gene

  • Glucosidase, Beta, Acid Pseudogene 1 2 3
  • Glucosidase, Beta; Acid, Pseudogene 2 3
  • Glucosylceramidase-Like Protein 3
  • GBAP 3

External Ids for GBAP1 Gene

Previous Symbols for GBAP1 Gene

  • GBAP

Summaries for GBAP1 Gene

GeneCards Summary for GBAP1 Gene

GBAP1 (Glucosidase, Beta, Acid Pseudogene 1) is a Pseudogene.

Gene Wiki entry for GBAP1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBAP1 Gene

Genomics for GBAP1 Gene

Genomic Location for GBAP1 Gene

Start:
155,213,821 bp from pter
End:
155,227,534 bp from pter
Size:
13,714 bases
Orientation:
Minus strand

Genomic View for GBAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GBAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBAP1 Gene

No data available for Regulatory Elements for GBAP1 Gene

Proteins for GBAP1 Gene

Post-translational modifications for GBAP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for GBAP1 Gene

Domains for GBAP1 Gene

No data available for Gene Families , Protein Domains and UniProtKB/Swiss-Prot for GBAP1 Gene

Function for GBAP1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GBAP1 Gene

Localization for GBAP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBAP1 Gene COMPARTMENTS Subcellular localization image for GBAP1 gene
Compartment Confidence
cytosol 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for GBAP1 Gene

Pathways for GBAP1 Gene

SuperPathways for GBAP1 Gene

No Data Available

Interacting Proteins for GBAP1 Gene

Gene Ontology (GO) - Biological Process for GBAP1 Gene

None

No data available for Pathways by source for GBAP1 Gene

Transcripts for GBAP1 Gene

mRNA/cDNA for GBAP1 Gene

(9) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GBAP1 Gene

Glucosidase, beta, acid pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GBAP1 Gene

No ASD Table

Relevant External Links for GBAP1 Gene

GeneLoc Exon Structure for
GBAP1
ECgene alternative splicing isoforms for
GBAP1

Expression for GBAP1 Gene

mRNA expression in normal human tissues for GBAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for GBAP1 Gene Hs.719930

genes like me logo Genes that share expressions with GBAP1: view

Orthologs for GBAP1 Gene

Evolution for GBAP1 Gene

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

No data available for Orthologs for GBAP1 Gene

Paralogs for GBAP1 Gene

No data available for Paralogs for GBAP1 Gene

Variants for GBAP1 Gene

Sequence variations from dbSNP and Humsavar for GBAP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs421585 -- 155,220,089(-) ACTAA(A/G)ACTGT intron-variant
rs497829 -- 155,223,741(-) CATAG(C/G)AAGAC intron-variant
rs1057941 -- 155,216,951(-) CCACT(C/T)GGCTC nc-transcript-variant
rs1135668 -- 155,217,353(-) TCATC(C/T)GGGTA nc-transcript-variant
rs2049805 -- 155,225,189(-) GAATA(A/G)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GBAP1 Gene

Variant ID Type Subtype PubMed ID
nsv464084 CNV Loss 19166990
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv470741 CNV Loss 18288195
nsv872457 CNV Loss 21882294
nsv527682 CNV Gain 19592680
nsv2988 CNV Insertion 18451855
nsv8458 CNV Gain 18304495
esv28935 CNV Gain 19812545
nsv8469 CNV Gain 18304495
esv2421617 CNV Duplication 20811451
nsv436038 CNV Insertion 17901297
nsv514011 CNV Gain 21397061
nsv441717 CNV CNV 18776908
nsv516159 CNV Gain 19592680

Relevant External Links for GBAP1 Gene

HapMap Linkage Disequilibrium report
GBAP1

Disorders for GBAP1 Gene

No disorders were found for GBAP1 Gene.

No data available for UniProtKB/Swiss-Prot for GBAP1 Gene

Publications for GBAP1 Gene

  1. Polymorphisms in the human glucocerebrosidase gene. (PMID: 1572652) Beutler E. … Gelbart T. (Genomics 1992) 3
  2. High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. (PMID: 1698821) Sorge J. … Beutler E. (J. Clin. Invest. 1990) 3
  3. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. (PMID: 2295698) Zimran A. … Beutler E. (J. Clin. Invest. 1990) 3
  4. Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. (PMID: 2438102) Reiner O. … Horowitz M. (DNA 1987) 3
  5. The human glucocerebrosidase gene and pseudogene: structure and evolution. (PMID: 2914709) Horowitz M. … Beutler E. (Genomics 1989) 3

Products for GBAP1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate GBAP1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for GBAP1
    • Block miRNA regulation of GBAP1 using miScript Target Protectors

    Sources for GBAP1 Gene

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