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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

Additional gene information for GBAP1 Gene

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

Genomics for GBAP1 Gene

GeneHancer (GH) Regulatory Elements for GBAP1 Gene

Promoters and enhancers for GBAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J155222 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 690.1 +1.8 1803 5.9 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A MEF2D GBAP1 KHDC4 ENSG00000271267 MSTO1 GON4L MSTO2P CLK2 LOC101928120 RUSC1-AS1 ASH1L-AS1
GH01J155191 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 46.8 +32.3 32332 6.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 ENSG00000231064 MUC1 GC01P155209 LOC105371450 MIR92B CLK2 GBAP1 GON4L UBAP2L KHDC4
GH01J155172 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 21.7 +51.8 51785 7.3 HDGF SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 KRTCAP2 TRIM46 GBAP1 ADAM15 MUC1 POU5F1P4 ENSG00000273088
GH01J155132 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.3 +92.0 92043 5.3 CLOCK MLX DMAP1 YY1 E2F8 ZNF143 SP3 SSRP1 NBN NR2C1 SLC50A1 GBAP1 SYT11 LOC101928120 ENSG00000231064 TRIM46 ASH1L-AS1 YY1AP1 DCST1-AS1 ADAM15
GH01J155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 18.6 -16.7 -16708 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA GON4L KHDC4 CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBAP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GBAP1 Gene

Genomic Locations for GBAP1 Gene
chr1:155,213,821-155,227,534
(GRCh38/hg38)
Size:
13,714 bases
Orientation:
Minus strand
chr1:155,183,616-155,197,325
(GRCh37/hg19)
Size:
13,710 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

Phenotypes From GWAS Catalog for GBAP1 Gene

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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for GBAP1 Gene

No Compound Related Data Available

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000091858 -- 155,216,000(-) C/A intron_variant
rs1000135563 -- 155,228,694(-) C/T upstream_transcript_variant
rs1000639854 -- 155,220,459(-) G/A/T intron_variant
rs1000787045 -- 155,226,797(-) T/ intron_variant
rs1001101603 -- 155,214,793(-) G/A intron_variant

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

Additional Variant Information for GBAP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GBAP1 Gene

Additional Disease Information for 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 (Nature genetics 2012) 3 58
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
  5. Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene. (PMID: 12180141) Martínez-Arias R … Comas D (DNA sequence : the journal of DNA sequencing and mapping 2002) 3 58

Products for GBAP1 Gene

Sources for GBAP1 Gene

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