Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
- Variant table
- Variant image
- Structural variants
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: GBA1 ENSPTRG00000001416

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Description

glucosylceramidase beta 1 [Source:VGNC Symbol;Acc:VGNC:58837]

Gene Synonyms

GBA

Location

Chromosome 1: 133,325,288-133,335,175 reverse strand.

Pan_tro_3.0:CM000314.3

About this gene

This gene has 3 transcripts (splice variants), 243 orthologues and 1 paralogue.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSPTRT00000002601.6	GBA1-202	2016	536aa	ENSPTRP00000051730.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A663DIC6 K7AGY4 Q9BDT0	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENSPTRT00000002602.5	GBA1-201	1686	487aa	ENSPTRP00000002393.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A6D2XCU0 K7BQ28	-
ENSPTRT00000097120.1	GBA1-203	1446	481aa	ENSPTRP00000073066.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A2I3S8B4	-

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Summary

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