ENSMUSG00000066150


Mus musculus

Features
Gene ID: ENSMUSG00000066150
  
Biological name :Slc31a1
  
Synonyms : Q8K211 / Slc31a1 / solute carrier family 31, member 1
  
Possible biological names infered from orthology : O15431
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: B3
Gene start: 62360727
Gene end: 62391769
  
Corresponding Affymetrix probe sets: 10505276 (MoGene1.0st)   1433750_at (Mouse Genome 430 2.0 Array)   1455285_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000112822
Ensembl peptide - ENSMUSP00000081574
NCBI entrez gene - 20529     See in Manteia.
MGI - MGI:1333843
RefSeq - NM_175090
RefSeq - XM_006537711
RefSeq Peptide - NP_780299
swissprot - A8Y5P1
swissprot - Q8K211
Ensembl - ENSMUSG00000066150
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc31a1ENSDARG00000013961Danio rerio
 SLC31A1ENSGALG00000008844Gallus gallus
 O15431ENSG00000136868Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9CPU9 / Slc31a2 / solute carrier family 31, member 2 / O15432*ENSMUSG0000006615224


Protein motifs (from Interpro)
Interpro ID Name
 IPR007274  Ctr copper transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006825 copper ion transport IEA
 biological_processGO:0006855 drug transmembrane transport IEA
 biological_processGO:0006878 cellular copper ion homeostasis IEA
 biological_processGO:0015677 copper ion import IEA
 biological_processGO:0035434 copper ion transmembrane transport IEA
 biological_processGO:0072719 cellular response to cisplatin IEA
 biological_processGO:0098705 copper ion import across plasma membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005770 late endosome IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0055037 recycling endosome IDA
 molecular_functionGO:0005375 copper ion transmembrane transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Metal ion SLC transporters


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001278 kinked vibrissae "sharp bends in the vibrissae" [J:56641]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001687 thin endoderm "reduced thickness of the innermost germ layer of the embryo" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003065 abnormal hepatic copper content "anomalous level of copper present in the liver tissue" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003087 absent allantois "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003952 abnormal copper level "anomaly in the concentration in the body with respect to this metallic element that normally occurs in a number of proteins including amine oxidases and chaperone proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Slc31a1tm1Djt/Slc31a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003954 abnormal Reichert s membrane "aberrant structure of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm beginning at E6.0 and is secreted by the distal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004272 abnormal basement membrane morphology "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004953 decreased spleen weight "reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005421 loose skin "condition in which the skin hangs in folds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005639 hemosiderosis "condition in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the reticuloendothelial system, without demonstrable tissue damage" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0006301 abnormal mesenchyme morphology "abnormality in the loosely packed, unspecialized cells that derive mostly from the mesoderm and contribute to connective tissue, bone, cartilage and circulatory and lymphatic systems." [J:120305, mnk:Michelle Knowlton_MGI Curator]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0006349 decreased circulating copper level "less than the normal concentration of copper in the blood" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", Riken ENU:Hiroshi Masuya]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0008743 decreased liver iron level "reduction in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc31a1tm1Djt/Slc31a1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Slc31a1tm1Djt/Slc31a1tm1Djt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011215 decreased brain copper level "a reduced amount of copper in the brain tissue compared to controls" [MGI:llw2]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

 MP:0012096 decreased Reichert s membrane thickness "reduced width of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm during placenta morphogenesis and is secreted by the distal parietal endoderm" [MGI:anna]
Show

Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt
Genetic Background: involves: 129S7/SvEvBrd

  


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






 

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