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Gene: SMCR8 (SMCR8-C9orf72 complex subunit) Homo sapiens
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Symbol: SMCR8
Name: SMCR8-C9orf72 complex subunit
RGD ID: 1345463
Description: Exhibits protein kinase binding activity and protein kinase inhibitor activity. Contributes to Rab guanyl-nucleotide exchange factor activity. Involved in negative regulation of macromolecule metabolic process; regulation of TOR signaling; and regulation of macroautophagy. Localizes to several cellular components, including Atg1/ULK1 kinase complex; guanyl-nucleotide exchange factor complex; and nucleoplasm; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; antirheumatic drug.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DENND8A; FLJ34716; FLJ60657; guanine nucleotide exchange protein SMCR8; Smith-Magenis syndrome chromosomal region candidate gene 8 protein; Smith-Magenis syndrome chromosome region, candidate 8
Orthologs:
Mus musculus (house mouse) : Smcr8 (Smith-Magenis syndrome chromosome region, candidate 8 homolog (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Smcr8 (SMCR8-C9orf72 complex subunit)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Smcr8 (SMCR8-C9orf72 complex subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : SMCR8 (SMCR8-C9orf72 complex subunit)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Smcr8 (SMCR8-C9orf72 complex subunit)
Sus scrofa (pig) : SMCR8 (SMCR8-C9orf72 complex subunit)
Chlorocebus sabaeus (African green monkey) : SMCR8 (SMCR8-C9orf72 complex subunit)
Heterocephalus glaber (naked mole-rat) : Smcr8 (SMCR8-C9orf72 complex subunit)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1718,315,293 - 18,328,056 (+)EnsemblGRCh38hg38GRCh38
GRCh381718,315,293 - 18,328,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371718,218,594 - 18,231,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,159,319 - 18,172,095 (+)NCBINCBI36hg18NCBI36
Build 341718,159,440 - 18,167,109NCBI
Celera1719,159,665 - 19,172,441 (+)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1717,972,126 - 17,984,902 (+)NCBIHuRef
CHM1_11718,227,353 - 18,240,129 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SMCR8
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1345463
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.