ENSMUSG00000049323


Mus musculus

Features
Gene ID: ENSMUSG00000049323
  
Biological name :Smcr8
  
Synonyms : Guanine nucleotide exchange protein SMCR8 / Q3UMB5 / Smcr8
  
Possible biological names infered from orthology : Q8TEV9 / Smith-Magenis syndrome chromosome region, candidate 8
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: B2
Gene start: 60777524
Gene end: 60788287
  
Corresponding Affymetrix probe sets: 10376721 (MoGene1.0st)   1429017_at (Mouse Genome 430 2.0 Array)   1437701_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000055926
Ensembl peptide - ENSMUSP00000099728
NCBI entrez gene - 237782     See in Manteia.
MGI - MGI:2444720
RefSeq - NM_001085440
RefSeq - NM_175491
RefSeq Peptide - NP_001078909
RefSeq Peptide - NP_780700
swissprot - Q3UMB5
Ensembl - ENSMUSG00000049323
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 E7FA21ENSDARG00000052818Danio rerio
 smcr8bENSDARG00000015803Danio rerio
 SMCR8ENSGALG00000024082Gallus gallus
 SMCR8ENSG00000176994Homo sapiens


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 IEA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0010506 regulation of autophagy IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0016242 negative regulation of macroautophagy IEA
 biological_processGO:0032008 positive regulation of TOR signaling IEA
 biological_processGO:1901098 positive regulation of autophagosome maturation IEA
 biological_processGO:1902902 negative regulation of autophagosome assembly IEA
 biological_processGO:1903432 regulation of TORC1 signaling IEA
 cellular_componentGO:0000785 chromatin IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0032045 guanyl-nucleotide exchange factor complex IEA
 cellular_componentGO:1990316 Atg1/ULK1 kinase complex IEA
 molecular_functionGO:0004860 protein kinase inhibitor activity IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0019901 protein kinase binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptentm1Mro/Pten+,Sdhbtm1.1Ics/Sdhb+,Tg(KLK3-cre)D4Trp/0
Genetic Background: involves: 129S2/SvPas * FVB

Allelic Composition: Smcr8tm1.1(KOMP)Vlcg/Smcr8tm1.1(KOMP)Vlcg
Genetic Background: involves: 129S1/SvImJ * C57BL/6J * C57BL/6NTac

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Mro/Pten+,Sdhbtm1.1Ics/Sdhb+,Tg(KLK3-cre)D4Trp/0
Genetic Background: involves: 129S2/SvPas * FVB

Allelic Composition: Smcr8tm1.1(KOMP)Vlcg/Smcr8tm1.1(KOMP)Vlcg
Genetic Background: involves: 129S1/SvImJ * C57BL/6J * C57BL/6NTac

 MP:0008469 abnormal protein level "anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Mro/Pten+,Sdhbtm1.1Ics/Sdhb+,Tg(KLK3-cre)D4Trp/0
Genetic Background: involves: 129S2/SvPas * FVB

Allelic Composition: Smcr8tm1.1(KOMP)Vlcg/Smcr8tm1.1(KOMP)Vlcg
Genetic Background: involves: 129S1/SvImJ * C57BL/6J * C57BL/6NTac

  


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






 

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