Gene
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,
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006819 hsa-miR-1-3p Luciferase reporter assay, Western blot 22362515
MIRT510749 hsa-miR-410-3p HITS-CLIP 21572407
MIRT510745 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT510744 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT510742 hsa-miR-3924 HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002026 Process Regulation of the force of heart contraction IC 19481548
GO:0002026 Process Regulation of the force of heart contraction ISS
GO:0002027 Process Regulation of heart rate ISS
GO:0002028 Process Regulation of sodium ion transport IEA
GO:0005432 Function Calcium:sodium antiporter activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182305 11068 ENSG00000183023
Protein
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
MYNMRRLSLSPTFSMGFHLLVTVSLLFSHVDHVIAETEMEGEGNETGECTGSYYCKKGVI
LPIWEPQDPSFGDKIARATVYFVAMVYMFLGVSIIADRFMSSIEVITSQEKEITIKKPNG
ETTKTTVRIWNETVSNLTLMALGSSAPEILLSVIEVCGHNFTAGDLGPSTIVGSAAFNMF
IIIALCVYVVPDGETRKIKHLRVFFVTAAWSIFAYTWLYIILSVISPGVVEVWEGLLTFF
FFPICVVFAWV
ADRRLLFYKYVYKRYRAGKQRGMIIEHEGDRPSSKTEIEMDGKVVNSHV
ENFLDGALVLEVDERDQDDEEARREMARILKELKQKHPDKEIEQLIELANYQVLSQQQKS
RAFYRIQATRLMTGAGNILKRHAADQARKA
VSMHEVNTEVTENDPVSKIFFEQGTYQCLE
NCGTVALTIIRRGGDLTNTVFVDFRTEDGTANAGSDYEFTEGTVVFKPGDTQKEIRVGII
DDDIFEEDENFLVHLS
NVKVSSEASEDGILEANHVSTLACLGSPSTATVTIFDDDHAGIF
TFEEPVTHVSESIGIMEVKVLRTSGARGNVIVPYKTIEGTARGGGEDFEDTCGELEFQND
EIVKTISVKVIDDEEYEKNKTFFLEIG
EPRLVEMSEKKALLLNELGGFTITGKYLFGQPV
FRKVHAREHPILSTVITIADEYDDKQPLTSKEEEERRIAEMGRPILGEHTKLEVIIEESY
EFKSTVDKLIKKTNLALVVGTNSWREQFIEAITVSAGEDDDDDECGEEKLPSCFDYVMHF
LTVFWKVLFAFVPPTEYWNGWACFIVSILMIGLLTAFIGDLASHFGCTIGLKDSVTAVVF
VALGTSVPDTFASKVAATQDQYADASIGNVTGSNAVNVFLGIGVAWSIAAIYHAANGEQF
KVSPGTLAFSVTLFTIFAFINVGVLLYRRRPEIGGELGGPRTAKLLTSCLFVLLWLLYIF
FSSL
EAYCHIKGF
Sequence length 973
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Apelin signaling pathway
Olfactory transduction
Endocrine and other factor-regulated calcium reabsorption
Protein digestion and absorption
Mineral absorption
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Reduction of cytosolic Ca++ levels
Sodium/Calcium exchangers
Ion homeostasis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
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
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
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
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