ENSMUSG00000005949


Mus musculus

Features
Gene ID: ENSMUSG00000005949
  
Biological name :Ctns
  
Synonyms : Ctns / Mus musculus cystinosis, nephropathic (Ctns), transcript variant 2, mRNA. / P57757
  
Possible biological names infered from orthology : cystinosin, lysosomal cystine transporter / O60931
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B4
Gene start: 73183596
Gene end: 73199042
  
Corresponding Affymetrix probe sets: 10388241 (MoGene1.0st)   1416274_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006103
Ensembl peptide - ENSMUSP00000104116
NCBI entrez gene - 83429     See in Manteia.
MGI - MGI:1932872
RefSeq - XM_011249325
RefSeq - NM_001357891
RefSeq - NM_001357892
RefSeq - NM_031251
RefSeq - XM_006534534
RefSeq - XM_006534535
RefSeq - XM_006534536
RefSeq - XM_011249323
RefSeq - XM_011249324
RefSeq - XM_006534533
RefSeq Peptide - NP_001344821
RefSeq Peptide - NP_112541
RefSeq Peptide - NP_001344820
swissprot - P57757
swissprot - Q542U5
Ensembl - ENSMUSG00000005949
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ctnsENSDARG00000008890Danio rerio
 CTNSENSGALG00000004628Gallus gallus
 CTNSENSG00000040531Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR005282  Lysosomal cystine transporter
 IPR006603  PQ-loop repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IMP
 biological_processGO:0006749 glutathione metabolic process IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007616 long-term memory IMP
 biological_processGO:0007625 grooming behavior IMP
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0008542 visual learning IMP
 biological_processGO:0010730 negative regulation of hydrogen peroxide biosynthetic process IEA
 biological_processGO:0010918 positive regulation of mitochondrial membrane potential IEA
 biological_processGO:0015811 L-cystine transport IEA
 biological_processGO:0042438 melanin biosynthetic process IEA
 biological_processGO:0046034 ATP metabolic process IEA
 biological_processGO:0050890 cognition IEA
 biological_processGO:1903427 negative regulation of reactive oxygen species biosynthetic process IEA
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0005765 lysosomal membrane ISO
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0045111 intermediate filament cytoskeleton IEA
 molecular_functionGO:0015184 L-cystine transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Transport of inorganic cations/anions and amino acids/oligopeptides
Miscellaneous transport and binding events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0000135 reduced cortical bone thickness "thinner than normal superficial layer of compact bone " [J:61509]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0002797 thigmotaxis "preference of a mouse for the side walls of a cage or box; usually an indicator of increased anxiety response" [J:56814]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005544 corneal deposits "accumulation of minerals, proteins, or other anomalous substances on the cornea" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011632 dilated mitochondria "the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith]
Show

Allelic Composition: Cd9tm1Mek/Cd9tm1Mek
Genetic Background: involves: 129/Sv * C57BL/6

  


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






 

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