GBA1 glucosylceramidase beta 1 [Pongo abelii (Sumatran orangutan)] - Gene

Summary

Gene symbol: GBA1
Gene description: glucosylceramidase beta 1
Locus tag: CR201_G0019137
See related: Ensembl:ENSPPYG00000000751
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Pongo abelii
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pongo
Also known as: GBA
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	NHGRI_mPonAbe1-v2.0_pri (GCF_028885655.2)	1	NC_071985.2 (95344713..95354989)
RS_2023_04	previous assembly	NHGRI_mPonAbe1-v1.1-hic.freeze_pri (GCF_028885655.1)	1	NC_071985.1 (95344704..95354967)

Chromosome 1 - NC_071985.2 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Markers

RH71037 (e-PCR)
- UniSTS:11016

GDB:607681 (e-PCR)
- UniSTS:158262

humgcb1 (e-PCR)
- UniSTS:91199

GDB:361159 (e-PCR)
- UniSTS:156742

MARC_6921-6922:996689842:1 (e-PCR)
- UniSTS:269690

RH69089 (e-PCR)
- UniSTS:50344

G06424 (e-PCR)
- UniSTS:7912

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables glucosylceramidase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in glucosylceramide catabolic process	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: lysosomal acid glucosylceramidase

Names: D-glucosyl-N-acylsphingosine glucohydrolase; SGTase; acid beta-glucosidase; beta-glucocerebrosidase; cholesterol glucosyltransferase; cholesteryl-beta-glucosidase; glucosidase, beta; acid (includes glucosylceramidase); lysosomal cholesterol glycosyltransferase; lysosomal galactosylceramidase; lysosomal glycosylceramidase

NP_001127488.1

EC 3.2.1.45

EC 3.2.1.46

XP_024098242.1

EC 3.2.1.45

EC 3.2.1.46

XP_054403117.1

EC 3.2.1.45

EC 3.2.1.46

XP_063579319.1

EC 3.2.1.45

EC 3.2.1.46

XP_063579320.1

EC 3.2.1.45

EC 3.2.1.46

XP_063579322.1

EC 3.2.1.45

EC 3.2.1.46

XP_063579323.1

EC 3.2.1.45

EC 3.2.1.46

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001134016.1 → NP_001127488.1 lysosomal acid glucosylceramidase precursor

See identical proteins and their annotated locations for NP_001127488.1

Status: PROVISIONAL

Source sequence(s)

CR859809

UniProtKB/Swiss-Prot

Q5R8E3, Q5RBT6

UniProtKB/TrEMBL

A0A2J8VGD3, A0A8I5TEG0

Related

ENSPPYP00000000872.3, ENSPPYT00000000903.3

Conserved Domains (2) summary

pfam02055
Location:117 → 466

Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain

pfam17189
Location:469 → 531

Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

RefSeqs of Annotated Genomes: GCF_028885655.2-RS_2024_02

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

Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Genomic

NC_071985.2 Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Range

95344713..95354989

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054547142.2 → XP_054403117.1 lysosomal acid glucosylceramidase isoform X3

UniProtKB/TrEMBL

A0A2J8VGC4, A0A8I5TIH1
XM_063723250.1 → XP_063579320.1 lysosomal acid glucosylceramidase isoform X1

UniProtKB/TrEMBL

A0A8I5TVL4
XM_063723249.1 → XP_063579319.1 lysosomal acid glucosylceramidase isoform X1

UniProtKB/TrEMBL

A0A8I5TVL4
XM_024242474.3 → XP_024098242.1 lysosomal acid glucosylceramidase isoform X4

UniProtKB/TrEMBL

A0A2J8VGC7, A0A8I5TEG0

Conserved Domains (2) summary

pfam17189
Location:382 → 444

Glyco_hydro_30C; Glycosyl hydrolase family 30 beta sandwich domain

cl23815
Location:30 → 379

Glyco_hydro_30; Glycosyl hydrolase family 30 TIM-barrel domain
XM_063723252.1 → XP_063579322.1 lysosomal acid glucosylceramidase isoform X2
XM_063723253.1 → XP_063579323.1 lysosomal acid glucosylceramidase isoform X5