Glucan, branching enzyme 1 variant, partial [Homo sapiens]

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.
Highlight Sequence Features
Opens the Highlight Feature Bar and highlights feature annotations from the FEATURES table of the record. The Highlight Feature Bar can be used to navigate to and highlight other features and provides links to display the highlighted region separately. Links in the FEATURES table will also highlight the corresponding region of the sequence. More...
Find in this Sequence
Finds sub-sequences or patterns in the sequence and highlights the matching regions. The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. More...

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series. [J Inherit Metab Dis. 2024]
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, et al. J Inherit Metab Dis. 2024 Mar; 47(2):255-269. Epub 2023 Nov 27.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. [Mol Genet Metab. 2023]
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, et al. Mol Genet Metab. 2023 Mar; 138(3):107525. Epub 2023 Jan 25.
A family study implicates GBE1 in the etiology of autism spectrum disorder. [Hum Mutat. 2022]
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, et al. Hum Mutat. 2022 Jan; 43(1):16-29. Epub 2021 Oct 21.

RefSeq genomic sequence
See the genomic reference sequence for the GBE1 gene (NG_011810.2).
RefSeq protein
See the reference protein sequence for 1,4-alpha-glucan-branching enzyme (NP_000149.4).

Nucleotide
Nucleotide sequence from coding region
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Encoding mRNA
Link from protein to encoding mRNA
Gene
Link to related Genes
Identical Structures
3D structures for identical protein sequences
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures

Glucan, branching enzyme 1 variant, partial [Homo sapiens]
Glucan, branching enzyme 1 variant, partial [Homo sapiens]
gi|62089042|dbj|BAD92968.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Protein