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Aliases for GBAP1 Gene

Aliases for GBAP1 Gene

  • Glucosylceramidase Beta Pseudogene 1 2 3 5
  • 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 HGNC Symbols for GBAP1 Gene

  • GBAP

Previous GeneCards Identifiers for GBAP1 Gene

  • GC01M126547

Summaries for GBAP1 Gene

GeneCards Summary for GBAP1 Gene

GBAP1 (Glucosylceramidase Beta 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

Regulatory Elements for GBAP1 Gene

Enhancers for GBAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F155222 0.4 ENCODE 40.1 +1.8 1804 5.9 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 KIAA0907 ENSG00000271267 MSTO2P THBS3 LOC101928120 PYGO2 GBAP1 ASH1L DPM3 RUSC1-AS1
GH01F155220 0.2 ENCODE 39 +7.5 7496 1.7 CBX3 NFRKB INSM2 ARID4B SIN3A ZBTB40 ETS1 YY1 GLIS2 SCRT2 GBAP1 LOC101928120 KRTCAP2 THBS3 ASH1L-AS1 KIAA0907 RIT1 GC01P155219 GC01P155220 GC01P155221
GH01F155191 0.4 ENCODE 38.7 +32.3 32332 6.5 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A ZNF2 SLC30A9 ZNF207 GBAP1 KIAA0907 ENSG00000271267 DPM3 THBS3 MUC1 GC01P155198 LOC105371450
GH01F155165 1.1 Ensembl ENCODE 29.1 +60.4 60368 2.9 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 GBAP1 KRTCAP2 KIAA0907 THBS3 ENSG00000271267 DCST1 DPM3 SSR2 GBA GC01P155149
GH01F155183 0.7 Ensembl ENCODE 23.2 +41.3 41336 4.8 HDGF TBP PKNOX1 WRNIP1 RARA GLIS2 ZNF366 SCRT2 FOS EGR2 GBAP1 MUC1 ADAM15 ENSG00000273088 TRIM46
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GBAP1 on UCSC Golden Path with GeneCards custom track

Promoters for GBAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000545532 334 1601 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for GBAP1 Gene

Chromosome:
1
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

Genes around GBAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for GBAP1 Gene

Graphical View of Domain Structure for InterPro Entry

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

Function for GBAP1 Gene

Animal Model Products

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

Localization for GBAP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for GBAP1 Gene

Pathways & Interactions 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 and SIGNOR curated interactions 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

NURSA nuclear receptor signaling pathways regulating expression of GBAP1 Gene:

GBAP1

SOURCE GeneReport for Unigene cluster for GBAP1 Gene:

Hs.719930
genes like me logo Genes that share expression patterns with GBAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GBAP1 Gene

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
rs144102895 -- 155,226,357(+) AAAAA(A/G)AAAGA intron-variant
rs148168407 -- 155,216,590(+) AACTG(-/TA)TAACT nc-transcript-variant
rs150114000 -- 155,226,355(+) AGAAA(A/G)AGAAA intron-variant
rs200443581 -- 155,224,351(+) CCTCA(C/T)ATGAT intron-variant
rs3835732 -- 155,227,764(-) CCCCC(-/C)ACCCA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv107e212 CNV gain 25503493
dgv3n68 CNV loss 17160897
dgv55e214 CNV gain 21293372
esv2421617 CNV duplication 20811451
esv2758971 CNV gain 17122850
esv2763713 CNV gain+loss 21179565
esv2764209 CNV gain+loss 21179565
esv28935 CNV gain 19812545
esv3578198 CNV loss 25503493
esv3587619 CNV loss 21293372
nsv1008748 CNV loss 25217958
nsv1010146 CNV gain 25217958
nsv1011773 CNV gain 25217958
nsv1119727 CNV deletion 24896259
nsv1121784 CNV deletion 24896259
nsv1145373 CNV deletion 24896259
nsv1161687 CNV deletion 26073780
nsv2988 CNV insertion 18451855
nsv436038 CNV insertion 17901297
nsv441717 CNV gain 18776908
nsv464084 CNV loss 19166990
nsv470741 CNV loss 18288195
nsv514011 CNV gain 21397061
nsv516159 CNV gain 19592680
nsv527682 CNV gain 19592680
nsv547961 CNV loss 21841781
nsv547963 CNV loss 21841781
nsv547964 CNV gain+loss 21841781
nsv8458 CNV gain 18304495
nsv8469 CNV gain 18304495
nsv946411 CNV duplication 23825009

Relevant External Links for GBAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for GBAP1 Gene

Disorders for GBAP1 Gene

Relevant External Links for GBAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GBAP1

No disorders were found for GBAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GBAP1 Gene

Publications for GBAP1 Gene

  1. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PMID: 22797727) Okada Y. … Tanaka T. (Nat. Genet. 2012) 3 64
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  5. Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene. (PMID: 12180141) MartA-nez-Arias R. … Comas D. (DNA Seq. 2002) 3 64

Products for GBAP1 Gene

Sources for GBAP1 Gene

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