ENSMUSG00000023945


Mus musculus

Features
Gene ID: ENSMUSG00000023945
  
Biological name :Slc5a7
  
Synonyms : High affinity choline transporter 1 / Q8BGY9 / Slc5a7
  
Possible biological names infered from orthology : Q9GZV3 / solute carrier family 5 member 7
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: C
Gene start: 54273594
Gene end: 54299034
  
Corresponding Affymetrix probe sets: 10451838 (MoGene1.0st)   1421428_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000093379
NCBI entrez gene - 63993     See in Manteia.
MGI - MGI:1927126
RefSeq - XM_006524776
RefSeq - NM_022025
RefSeq - XM_006524774
RefSeq - XM_006524775
RefSeq Peptide - NP_071308
swissprot - Q8BGY9
Ensembl - ENSMUSG00000023945
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FQ377903.2ENSDARG00000102336Danio rerio
 slc5a7aENSDARG00000074860Danio rerio
 SLC5A7ENSGALG00000016804Gallus gallus
 Q9GZV3ENSG00000115665Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001734  Sodium/solute symporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0007271 synaptic transmission, cholinergic IMP
 biological_processGO:0007274 neuromuscular synaptic transmission IMP
 biological_processGO:0008292 acetylcholine biosynthetic process IEA
 biological_processGO:0015871 choline transport IMP
 biological_processGO:0042136 neurotransmitter biosynthetic process IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IBA
 cellular_componentGO:0030425 dendrite IBA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0043204 perikaryon IBA
 cellular_componentGO:0045202 synapse IBA
 molecular_functionGO:0005307 choline:sodium symporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015220 choline transmembrane transporter activity IMP
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0022857 transmembrane transporter activity IEA
 molecular_functionGO:0033265 choline binding IDA


Pathways (from Reactome)
Pathway description
Acetylcholine Neurotransmitter Release Cycle
Transport of bile salts and organic acids, metal ions and amine compounds


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0000940 abnormal motor neuron innervation "misprojection or failure to bundle motor axons to an effector tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0004836 abnormal synaptic acetylcholine release "aberrant secretion across synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system" [MESH:National Library of Medicine_Medical Subject Headings]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005498 hyporesponsive to tactile stimuli "reduced reflex action normally induced by touch or pain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005505 increased platelet count "greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0009144 dilated pancreatic duct "an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A03.734.667]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0010052 increased grip strength "greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010484 bicuspid aortic valve "the presence of two cusps in the aortic valve instead of three" [http://emedicine.medscape.com]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010912 herniated liver "protrusion of any portion of the liver from its normal anatomical position" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0013971 blood in lymph vessels 
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0013975 abnormal coronary sinus connection 
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0014001 abnormal vertebral artery topology "abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

  


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






 

1 s.

 
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