ENSG00000090020


Homo sapiens

Features
Gene ID: ENSG00000090020
  
Biological name :SLC9A1
  
Synonyms : P19634 / SLC9A1 / solute carrier family 9 member A1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.11
Gene start: 27098815
Gene end: 27166981
  
Corresponding Affymetrix probe sets: 1554728_at (Human Genome U133 Plus 2.0 Array)   209453_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363197
Ensembl peptide - ENSP00000363199
Ensembl peptide - ENSP00000263980
NCBI entrez gene - 6548     See in Manteia.
OMIM - 107310
RefSeq - NM_003047
RefSeq - XM_011542021
RefSeq Peptide - NP_003038
swissprot - B1ALD5
swissprot - P19634
Ensembl - ENSG00000090020
  
Related genetic diseases (OMIM): 616291 - ?Lichtenstein-Knorr syndrome, 616291
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SLC9A1ENSDARG00000067784Danio rerio
 slc9a1bENSDARG00000097339Danio rerio
 SLC9A1ENSGALG00000034251Gallus gallus
 Q61165ENSMUSG00000028854Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9UBY0 / SLC9A2 / solute carrier family 9 member A2ENSG0000011561643
Q6AI14 / SLC9A4 / solute carrier family 9 member A4ENSG0000018025140
Q14940 / SLC9A5 / solute carrier family 9 member A5ENSG0000013574035
P48764 / SLC9A3 / solute carrier family 9 member A3ENSG0000006623035
Q96T83 / SLC9A7 / solute carrier family 9 member A7ENSG0000006592320
Q92581 / SLC9A6 / solute carrier family 9 member A6ENSG0000019868919
Q9Y2E8 / SLC9A8 / solute carrier family 9 member A8ENSG0000019781818
Q8IVB4 / SLC9A9 / solute carrier family 9 member A9ENSG0000018180418


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 TAS
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006883 cellular sodium ion homeostasis IDA
 biological_processGO:0006885 regulation of pH IEA
 biological_processGO:0010447 response to acidic pH IDA
 biological_processGO:0010613 positive regulation of cardiac muscle hypertrophy IMP
 biological_processGO:0010882 regulation of cardiac muscle contraction by calcium ion signaling IMP
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016477 cell migration TAS
 biological_processGO:0030011 maintenance of cell polarity TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030214 hyaluronan catabolic process TAS
 biological_processGO:0030307 positive regulation of cell growth IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0035794 positive regulation of mitochondrial membrane permeability IEA
 biological_processGO:0035994 response to muscle stretch IMP
 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 IDA
 biological_processGO:0051259 protein complex oligomerization ISS
 biological_processGO:0051453 regulation of intracellular pH IDA
 biological_processGO:0051492 regulation of stress fiber assembly TAS
 biological_processGO:0051893 regulation of focal adhesion assembly TAS
 biological_processGO:0051930 regulation of sensory perception of pain IEA
 biological_processGO:0055007 cardiac muscle cell differentiation IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070417 cellular response to cold IEA
 biological_processGO:0070886 positive regulation of calcineurin-NFAT signaling cascade IDA
 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:0071260 cellular response to mechanical stimulus TAS
 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 IDA
 biological_processGO:0071805 potassium ion transmembrane transport IBA
 biological_processGO:0071872 cellular response to epinephrine stimulus IMP
 biological_processGO:0086003 cardiac muscle cell contraction IEA
 biological_processGO:0086036 regulation of cardiac muscle cell membrane potential TAS
 biological_processGO:0086092 regulation of the force of heart contraction by cardiac conduction IMP
 biological_processGO:0098719 sodium ion import across plasma membrane IDA
 biological_processGO:0098735 positive regulation of the force of heart contraction IMP
 biological_processGO:1902533 positive regulation of intracellular signal transduction IEA
 biological_processGO:1902600 proton transmembrane transport IEA
 biological_processGO:1903281 positive regulation of calcium:sodium antiporter activity IMP
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030027 lamellipodium TAS
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0090533 cation-transporting ATPase complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding TAS
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0015299 solute:proton antiporter activity IEA
 molecular_functionGO:0015385 sodium:proton antiporter activity IEA
 molecular_functionGO:0015386 potassium:proton antiporter activity IBA
 molecular_functionGO:0030346 protein phosphatase 2B binding IPI
 molecular_functionGO:0030674 protein binding, bridging TAS
 molecular_functionGO:0032947 protein-containing complex scaffold activity TAS
 molecular_functionGO:0048306 calcium-dependent protein binding IDA
 molecular_functionGO:0086040 sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential TAS


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001272 Cerebellar atrophy 
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 HP:0001310 Dysmetria 
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 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
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 HP:0002070 Limb ataxia 
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 HP:0002075 Dysdiadochokinesis "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators]
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 HP:0002345 Action tremor "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000136011 STAB2 / Q8WWQ8 / stabilin 2  / complex / reaction
 ENSG00000133800 LYVE1 / Q9Y5Y7 / lymphatic vessel endothelial hyaluronan receptor 1  / reaction / complex
 ENSG00000068001 HYAL2 / Q12891 / hyaluronoglucosaminidase 2  / reaction / complex
 ENSG00000072571 HMMR / O75330 / hyaluronan mediated motility receptor  / complex / reaction
 ENSG00000026508 CD44 / P16070 / CD44 molecule (Indian blood group)  / reaction / complex
 ENSG00000187446 CHP1 / Q99653 / calcineurin like EF-hand protein 1  / complex






 

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