ENSMUSG00000028854


Mus musculus

Features
Gene ID: ENSMUSG00000028854
  
Biological name :Slc9a1
  
Synonyms : Q61165 / Slc9a1 / solute carrier family 9 (sodium/hydrogen exchanger), member 1
  
Possible biological names infered from orthology : P19634 / solute carrier family 9 member A1
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: D2.3
Gene start: 133369706
Gene end: 133423702
  
Corresponding Affymetrix probe sets: 10508860 (MoGene1.0st)   1417397_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000030669
NCBI entrez gene - 20544     See in Manteia.
MGI - MGI:102462
RefSeq - XM_017320089
RefSeq - NM_016981
RefSeq - XM_006538686
RefSeq - XM_006538687
RefSeq Peptide - NP_058677
swissprot - Q3UDC9
swissprot - Q61165
Ensembl - ENSMUSG00000028854
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SLC9A1ENSDARG00000067784Danio rerio
 slc9a1bENSDARG00000097339Danio rerio
 SLC9A1ENSGALG00000034251Gallus gallus
 P19634ENSG00000090020Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Slc9a2 / solute carrier family 9 (sodium/hydrogen exchanger), member 2 / Q9UBY0* / solute carrier family 9 member A2*ENSMUSG0000002606244
Q8BUE1 / Slc9a4 / Sodium/hydrogen exchanger 4 / Q6AI14* / solute carrier family 9 member A4*ENSMUSG0000002606537
G3X939 / Slc9a3 / Sodium/hydrogen exchanger 3 / P48764* / solute carrier family 9 member A3*ENSMUSG0000003612334
Slc9a5 / solute carrier family 9 (sodium/hydrogen exchanger), member 5 / Q14940* / solute carrier family 9 member A5*ENSMUSG0000001478634
Q8BLV3 / Slc9a7 / Sodium/hydrogen exchanger 7 / Q96T83* / solute carrier family 9 member A7*ENSMUSG0000003734120
Q8BZ00 / Slc9a9 / Sodium/hydrogen exchanger 9 / Q8IVB4* / solute carrier family 9 member A9*ENSMUSG0000003112918
Q8R4D1 / Slc9a8 / Sodium/hydrogen exchanger 8 / Q9Y2E8* / solute carrier family 9 member A8*ENSMUSG0000003946318
Slc9a6 / Mus musculus solute carrier family 9 (sodium/hydrogen exchanger), member 6 (Slc9a6), transcript variant 2, mRNA. / Q92581* / solute carrier family 9 member A6*ENSMUSG0000006068118


Protein motifs (from Interpro)
Interpro ID Name
 IPR001970  Na+/H+ exchanger, isoform 1 (NHE1)
 IPR004709  Na+/H+ exchanger
 IPR006153  Cation/H+ exchanger
 IPR018422  Cation/H+ exchanger, CPA1 family
 IPR032103  Sodium/hydrogen exchanger, regulatory region


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002026 regulation of the force of heart contraction IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006814 sodium ion transport IDA
 biological_processGO:0006883 cellular sodium ion homeostasis IEA
 biological_processGO:0006885 regulation of pH ISO
 biological_processGO:0010447 response to acidic pH IEA
 biological_processGO:0010613 positive regulation of cardiac muscle hypertrophy IEA
 biological_processGO:0010882 regulation of cardiac muscle contraction by calcium ion signaling IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030307 positive regulation of cell growth IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0035794 positive regulation of mitochondrial membrane permeability IEA
 biological_processGO:0035994 response to muscle stretch IEA
 biological_processGO:0036376 sodium ion export across plasma membrane ISS
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045760 positive regulation of action potential IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0051259 protein complex oligomerization ISS
 biological_processGO:0051453 regulation of intracellular pH IEA
 biological_processGO:0051930 regulation of sensory perception of pain IEA
 biological_processGO:0055007 cardiac muscle cell differentiation IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070417 cellular response to cold IEA
 biological_processGO:0070886 positive regulation of calcineurin-NFAT signaling cascade IEA
 biological_processGO:0070997 neuron death IEA
 biological_processGO:0071236 cellular response to antibiotic IEA
 biological_processGO:0071257 cellular response to electrical stimulus IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071468 cellular response to acidic pH IEA
 biological_processGO:0071805 potassium ion transmembrane transport IBA
 biological_processGO:0071872 cellular response to epinephrine stimulus ISO
 biological_processGO:0086003 cardiac muscle cell contraction IEA
 biological_processGO:0086092 regulation of the force of heart contraction by cardiac conduction IEA
 biological_processGO:0098719 sodium ion import across plasma membrane IEA
 biological_processGO:0098735 positive regulation of the force of heart contraction IEA
 biological_processGO:1902533 positive regulation of intracellular signal transduction IEA
 biological_processGO:1902600 proton transmembrane transport ISO
 biological_processGO:1903281 positive regulation of calcium:sodium antiporter activity ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0090533 cation-transporting ATPase complex ISO
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0015299 solute:proton antiporter activity IEA
 molecular_functionGO:0015385 sodium:proton antiporter activity ISO
 molecular_functionGO:0015386 potassium:proton antiporter activity IBA
 molecular_functionGO:0030346 protein phosphatase 2B binding IEA
 molecular_functionGO:0048306 calcium-dependent protein binding IEA


Pathways (from Reactome)
Pathway description
Hyaluronan uptake and degradation
Sodium/Proton exchangers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000473 abnormal stomach glandular epithelium morphology "malformation of the gland-containing epithelial layer of the stomach" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc, J:54637]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0000623 reduced salivation "decrease flow, secretion, or amount of saliva" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0001199 thin skin "reduced thickness of the outer protective layer of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0001240 abnormal cornified layer morphology "structural or developmental anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

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

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: SJL/J-Slc9a1swe/J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: SJL/J-Slc9a1swe/J

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0001443 poor grooming "below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [MGI:CLS, J:30404]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: involves: C57BL/6J * SJL/J

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: involves: C57BL/6J * SJL/J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: (SJL/J-Slc9a1swe x B6.SJL-Slc9a1swe)F1

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0002834 decreased heart weight "less than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0002856 abnormal vestibular ganglion morphology "malformation of the group of neurons associated with the vestibular part of the eighth cranial nerve that are involved in equilibration" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0003216 absence seizures "impairment of consciousness without convulsions associated with widespread bilaterally synchronous spike-and-wave discharges (SWDs) in the electroencephalogram (EEG)" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: involves: C57BL/6J * SJL/J

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0003312 abnormal locomotor coordination "reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: SJL/J-Slc9a1swe/J

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: SJL/J-Slc9a1swe/J

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: involves: C57BL/6J * SJL/J

 MP:0004486 decreased response of heart to induced stress "decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0008035 behavioral arrest "locomotor activity is interrupted by sudden periods of no movement" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: involves: C57BL/6J * SJL/J

 MP:0008571 abnormal synaptic bouton morphology "any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters" [MESH:A08.663.542.145.750]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0009979 abnormal cerebellum deep nucleus morphology "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0009980 abnormal cerebellum dentate nucleus morphology "any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

 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: Slc9a1swe/Slc9a1swe
Genetic Background: B6.SJL-Slc9a1swe

 MP:0011110 partial preweaning 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 weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Slc9a1swe/Slc9a1swe
Genetic Background: (SJL/J-Slc9a1swe x B6.SJL-Slc9a1swe)F1

 MP:0013532 abnormal parotid gland physiology "any functional anomaly of either of the largest of the major salivary glands situated below and in front of each ear " [MGI:Anna]
Show

Allelic Composition: Cd83lcd4/Cd83lcd4
Genetic Background: involves: C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000010047 Hyal2 / O35632 / Hyaluronidase-2 / Q12891* / hyaluronoglucosaminidase 2*  / complex / reaction
 ENSMUSG00000020330 Hmmr / Q00547 / Hyaluronan mediated motility receptor / O75330*  / complex / reaction
 ENSMUSG00000030787 Lyve1 / Q8BHC0 / Lymphatic vessel endothelial hyaluronic acid receptor 1 / Q9Y5Y7* / lymphatic vessel endothelial hyaluronan receptor 1*  / reaction / complex
 ENSMUSG00000014077 Chp1 / P61022 / Calcineurin B homologous protein 1 / Q99653* / calcineurin like EF-hand protein 1*  / complex
 ENSMUSG00000035459 Stab2 / Q8R4U0 / Stabilin-2 Short form stabilin-2 / Q8WWQ8* / stabilin 2*  / reaction / complex






 

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