ENSMUSG00000053684


Mus musculus

Features
Gene ID: ENSMUSG00000053684
  
Biological name :BC048403
  
Synonyms : BC048403 / KICSTOR complex / Q6P1I3
  
Possible biological names infered from orthology : C12orf66 / chromosome 12 open reading frame 66 / Q96MD2
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: D2
Gene start: 121739937
Gene end: 121752878
  
Corresponding Affymetrix probe sets: 10366698 (MoGene1.0st)   1427954_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000117249
Ensembl peptide - ENSMUSP00000070834
NCBI entrez gene - 270802     See in Manteia.
MGI - MGI:2670984
RefSeq - NM_173022
RefSeq - XM_006513697
RefSeq Peptide - NP_766610
swissprot - D3Z5F2
swissprot - Q6P1I3
Ensembl - ENSMUSG00000053684
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q1L8F9ENSDARG00000045790Danio rerio
 C12orf66ENSGALG00000027682Gallus gallus
 Q96MD2ENSG00000174206Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR018544  KICSTOR complex protein C12orf66-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0034198 cellular response to amino acid starvation ISO
 biological_processGO:0042149 cellular response to glucose starvation ISO
 biological_processGO:0061462 protein localization to lysosome ISO
 biological_processGO:1904262 negative regulation of TORC1 signaling ISO
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0140007 KICSTOR complex ISO
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0000198 hypophosphatemia "abnormally low concentrations of phosphates in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

  


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






 

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