Sequence Detail

ID/Version

Q3UMB5 Q5U4H2 Q8BNG6 Q8C704 (UniProt | EBI)

Last sequence update: 2007-05-15
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=Guanine nucleotide exchange protein SMCR8 {ECO:0000305};AltName: Full=Smith-Magenis syndrome chromosomal region candidate gene 8 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 935 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Smcr8	Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)	46	96	4	15

Sequence references in MGI

J:76499 Bi W, et al., Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 2002 May;12(5):713-28
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:236977 Yang M, et al., A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Sci Adv. 2016 Sep;2(9):e1601167
J:237194 Ugolino J, et al., Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling. PLoS Genet. 2016 Nov;12(11):e1006443
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:292854 Xiao S, et al., Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels. Acta Neuropathol Commun. 2019 Oct 24;7(1):161