SLC8A1 (solute carrier family 8 member A1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6546 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Solute carrier family 8 member A1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SLC8A1 |
SynonymsGene synonyms aliases
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NCX1 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P32418 |
Protein name |
Sodium/calcium exchanger 1 (Na(+)/Ca(2+)-exchange protein 1) (Solute carrier family 8 member 1) |
Protein function |
Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:11241183, PubMed:1374913, P |
PDB |
8JP0
,
8SGI
,
8SGJ
,
8SGT
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01699 |
Na_Ca_ex |
80 → 251 |
Sodium/calcium exchanger protein |
Family |
PF16494 |
Na_Ca_ex_C |
254 → 390 |
C-terminal extension of sodium/calcium exchanger domain |
Family |
PF03160 |
Calx-beta |
396 → 496 |
Calx-beta domain |
Domain |
PF03160 |
Calx-beta |
527 → 627 |
Calx-beta domain |
Domain |
PF01699 |
Na_Ca_ex |
799 → 964 |
Sodium/calcium exchanger protein |
Family |
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Sequence |
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Sequence length |
973 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
23563609 |
Seizure |
Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 |
20888801 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Clonic seizures |
Clonic Seizures |
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20888801 |
Grand mal status epilepticus |
Grand Mal Status Epilepticus |
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20888801 |
Hypotonic seizures |
Epileptic drop attack |
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20888801 |
Jacksonian seizure |
Jacksonian Seizure |
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20888801 |
Myocardial ischemia |
Myocardial Ischemia |
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16214533 |
Nonconvulsive status epilepticus |
Non-Convulsive Status Epilepticus |
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20888801 |
Petit mal status |
Petit mal status |
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20888801 |
Status epilepticus |
Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical |
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20888801 |
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