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Symbol report for GBA1

Stable symbol

HGNC data for GBA1

Approved symbol
GBA1
Approved name

glucosylceramidase beta 1

Locus type
gene with protein product
HGNC ID
HGNC:4177
Symbol status
Approved
Previous symbols
GLUC
GBA
Previous names
glucosylceramidase
glucosidase, beta; acid (includes glucosylceramidase)
glucosidase, beta, acid
glucosylceramidase beta
Alias names
glucocerebrosidase
Chromosomal location
1q22
Gene groups
Gene resources for GBA1
Ensembl
ENSG00000177628 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2629 Curated
UCSC
uc001fjk.4
Alliance of Genome Resources
HGNC:4177
Nucleotide resources for GBA1
MANE Select
NM_000157.4
ENST00000368373.8
INSDC
M19285 Curated
ENAGenBankDDBJ
RefSeq
NM_000157 Curated
NCBI sequence viewer
CCDS
CCDS1102 Curated
CCDS53373 Curated
CCDS53374 Curated
Protein resources for GBA1
UniProt/Swiss-Prot
P04062
InterProPDBeReactome
AlphaFold
AF-P04062-F1
Enzyme Commission
3.2.1.45 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for GBA1
Bos taurus
GBA1 VGNC:50183 VGNC
Canis familiaris
GBA1 VGNC:41130 VGNC
Equus caballus
GBA1 VGNC:18261 VGNC
Felis catus
GBA1 VGNC:62481 VGNC
Macaca mulatta
GBA1 VGNC:72893 VGNC
Mus musculus
Gba1 MGI:95665 Curated
Pan troglodytes
GBA1 VGNC:58837 VGNC
Rattus norvegicus
Gba1 RGD:1589149
Sus scrofa
GBA1 VGNC:98802 VGNC
Specialist resources for GBA1
IUPHAR/BPS Guide to PHARMACOLOGY
2978
Clinical resources for GBA1
OMIM
606463
GenCC
HGNC:4177
MedlinePlus
Search via GBA1
DECIPHER
Search via GBA1
ClinGen
Search via HGNC:4177
Genetic Testing Registry
Search via NCBI Gene ID 2629
ClinVar
Search via NCBI Gene ID 2629
dbVar
Search via NCBI Gene ID 2629
Orphanet
122039
Other resources for GBA1
AmiGO
Search via P04062
QuickGO
Search via P04062
BioGPS
Search via NCBI Gene ID 2629
GeneCards
Search via HGNC:4177
Monarch
Search via HGNC:4177
WikiGenes
Search via NCBI Gene ID 2629
References for GBA1