Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6546
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Solute carrier family 8 member A1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SLC8A1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
NCX1 |
Chromosome
Chromosome number
|
2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2p22.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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, |
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
|
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 |
|
Tissue specificity |
TISSUE SPECIFICITY: Detected primarily in heart and at lower levels in brain (PubMed:1374913). Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and lung (PubMed:1476165). {ECO:0000269|PubMed:1374913, ECO:0000269|P |
Sequence |
|
Sequence length |
973 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
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 View all (179 more) |
20888801 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenoma |
Associate
|
28544176, 37074453 |
Alzheimer Disease |
Associate
|
21382638 |
Basal Ganglia Diseases |
Associate
|
15148385 |
Bipolar Disorder |
Associate
|
27063557 |
Bone Diseases |
Associate
|
36251145 |
Carcinogenesis |
Associate
|
27588478 |
Carcinoma Non Small Cell Lung |
Associate
|
34724864, 36042596 |
Carcinoma Pancreatic Ductal |
Associate
|
37566113 |
Colorectal Neoplasms |
Associate
|
34127021, 37438612 |
Crisponi syndrome |
Associate
|
38255780 |
Diabetes Mellitus |
Associate
|
28804970 |
Diabetes Mellitus Type 2 |
Stimulate
|
28804970 |
Drug Hypersensitivity |
Associate
|
37966164 |
Endometrial Neoplasms |
Associate
|
36231119 |
Esophageal Squamous Cell Carcinoma |
Associate
|
27588478 |
Essential Hypertension |
Associate
|
15785003 |
Familial Primary Pulmonary Hypertension |
Associate
|
17192285 |
Glioblastoma |
Associate
|
24641279 |
Heart Arrest |
Stimulate
|
17192285 |
Heart Diseases |
Associate
|
10898440 |
Heart Failure Diastolic |
Associate
|
32330487 |
Hypertension |
Associate
|
15785003, 19562039, 25168954 |
Intervertebral Disc Degeneration |
Associate
|
38492610 |
Juvenile gout |
Associate
|
39216982 |
Lung Diseases |
Associate
|
17192285 |
Medulloblastoma |
Associate
|
28683437 |
Mitral Valve Insufficiency |
Associate
|
17347034 |
Mucocutaneous Lymph Node Syndrome |
Associate
|
28753597 |
Multiple Myeloma |
Associate
|
36251145 |
Multiple Sclerosis |
Associate
|
15148385 |
Nasopharyngeal Carcinoma |
Associate
|
37151882 |
Neoplasms |
Associate
|
20861471, 28544176, 34127021, 37151882, 39731939 |
Neoplasms |
Stimulate
|
27588478 |
Neoplasms |
Inhibit
|
33869627, 34724864 |
Nerve Degeneration |
Associate
|
15148385 |
Osteoarthritis |
Associate
|
35894157 |
Ovarian Neoplasms |
Associate
|
26584285 |
Overtraining Syndrome |
Stimulate
|
27591218 |
Pain |
Associate
|
33573686 |
Pancreatic Neoplasms |
Associate
|
20861471 |
Pancreatitis |
Associate
|
37566113 |
Parkinson Disease |
Associate
|
32899900, 38255780 |
Prostatic Neoplasms |
Inhibit
|
33869627 |
Pulmonary Disease Chronic Obstructive |
Associate
|
34588774 |
Sciatica |
Associate
|
33573686 |
Stomach Neoplasms |
Associate
|
39731939 |
Thyroid Cancer Papillary |
Associate
|
35599603 |
Uveal melanoma |
Associate
|
37966164 |
Ventricular Dysfunction Left |
Associate
|
17347034 |
|