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GBAP1 glucosylceramidase beta pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 2630, updated on 25-Oct-2022

Summary

Official Symbol
GBAP1provided by HGNC
Official Full Name
glucosylceramidase beta pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:4178
See related
Ensembl:ENSG00000291137 AllianceGenome:HGNC:4178
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GC; GBA; GBAP; GLUC; Beta-GC
Expression
Ubiquitous expression in brain (RPKM 11.5), thyroid (RPKM 10.3) and 25 other tissues See more
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Genomic context

See GBAP1 in Genome Data Viewer
Location:
1q22
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155213825..155227534, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154352388..154366091, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155183616..155197325, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene THBS3 antisense RNA 1 Neighboring gene microRNA 92b Neighboring gene thrombospondin 3 Neighboring gene GBAP1 recombination region Neighboring gene metaxin 1 Neighboring gene GBA recombination region Neighboring gene metaxin 1 pseudogene 1 Neighboring gene glucosylceramidase beta 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Other Names

  • Acid beta-glucosidase
  • Alglucerase
  • Beta-glucocerebrosidase
  • D-glucosyl-N-acylsphingosine glucohydrolase
  • Imiglucerase
  • glucosidase, beta, acid pseudogene 1
  • glucosidase, beta; acid, pseudogene
  • glucosylceramidase-like protein

Clone Names

  • MGC8614, FLJ58833, MGC40022, MGC104662

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_002188.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC234582, BC030240, DB192327
    Related
    ENST00000693267.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    155213825..155227534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    18853..32558 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    154352388..154366091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)