ENSG00000176994


Homo sapiens

Features
Gene ID: ENSG00000176994
  
Biological name :SMCR8
  
Synonyms : Q8TEV9 / SMCR8 / Smith-Magenis syndrome chromosome region, candidate 8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p11.2
Gene start: 18315310
Gene end: 18328055
  
Corresponding Affymetrix probe sets: 1552484_at (Human Genome U133 Plus 2.0 Array)   1557986_s_at (Human Genome U133 Plus 2.0 Array)   227304_at (Human Genome U133 Plus 2.0 Array)   227305_s_at (Human Genome U133 Plus 2.0 Array)   238434_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385025
NCBI entrez gene - 140775     See in Manteia.
OMIM - 617074
RefSeq - NM_144775
RefSeq Peptide - NP_658988
swissprot - Q8TEV9
Ensembl - ENSG00000176994
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 E7FA21ENSDARG00000052818Danio rerio
 smcr8bENSDARG00000015803Danio rerio
 SMCR8ENSGALG00000024082Gallus gallus
 Smcr8ENSMUSG00000049323Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR037520  Folliculin, N-terminal
 IPR037521  Folliculin/SMCR8, tripartite DENN domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006469 negative regulation of protein kinase activity IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0010506 regulation of autophagy IEA
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0016242 negative regulation of macroautophagy IMP
 biological_processGO:0032008 positive regulation of TOR signaling IMP
 biological_processGO:1901098 positive regulation of autophagosome maturation IMP
 biological_processGO:1902902 negative regulation of autophagosome assembly IMP
 biological_processGO:1903432 regulation of TORC1 signaling IMP
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0032045 guanyl-nucleotide exchange factor complex IDA
 cellular_componentGO:1990316 Atg1/ULK1 kinase complex IDA
 molecular_functionGO:0004860 protein kinase inhibitor activity IMP
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0019901 protein kinase binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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