All download files including the archive files are now in a publicly accessible Google Storage Bucket. Downloads page links have been updated.

Not found

Our G-nome assistant hasn't been able to find this symbol report. Please check the URL or use our search to find what you are looking for.

Symbol report for GBE1

Stable symbol

HGNC data for GBE1

Approved symbol
GBE1
Approved name

1,4-alpha-glucan branching enzyme 1

Locus type
gene with protein product
HGNC ID
HGNC:4180
Symbol status
Approved
Previous names
glucan (1,4-alpha-), branching enzyme 1
Alias names
glycogen branching enzyme
Andersen disease
glycogen storage disease type IV
Chromosomal location
3p12.2
Gene resources for GBE1
Ensembl
ENSG00000114480 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2632 Curated
UCSC
uc062lqz.1
Alliance of Genome Resources
HGNC:4180
Nucleotide resources for GBE1
MANE Select
NM_000158.4
ENST00000429644.7
RefSeq
NM_000158
NCBI sequence viewer
CCDS
CCDS54612 Curated
Protein resources for GBE1
UniProt/Swiss-Prot
Q04446
InterProPDBeReactome
AlphaFold
AF-Q04446-F1
Enzyme Commission
2.4.1.18 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for GBE1
Bos taurus
GBE1 VGNC:53570 VGNC
Canis familiaris
GBE1 VGNC:41132 VGNC
Equus caballus
GBE1 VGNC:18263 VGNC
Felis catus
GBE1 VGNC:97178 VGNC
Macaca mulatta
GBE1 VGNC:72894 VGNC
Mus musculus
Gbe1 MGI:1921435 Curated
Pan troglodytes
GBE1 VGNC:14241 VGNC
Rattus norvegicus
Gbe1 RGD:1309968
Sus scrofa
GBE1 VGNC:88374 VGNC
Clinical resources for GBE1
OMIM
607839
GenCC
HGNC:4180
MedlinePlus
Search via GBE1
DECIPHER
Search via GBE1
ClinGen
Search via HGNC:4180
Genetic Testing Registry
Search via NCBI Gene ID 2632
ClinVar
Search via NCBI Gene ID 2632
dbVar
Search via NCBI Gene ID 2632
Orphanet
122043
Other resources for GBE1
AmiGO
Search via Q04446
QuickGO
Search via Q04446
BioGPS
Search via NCBI Gene ID 2632
GeneCards
Search via HGNC:4180
Monarch
Search via HGNC:4180
WikiGenes
Search via NCBI Gene ID 2632
References for GBE1