SLC9A1 (solute carrier family 9 member A1) - Rat Genome Database

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Gene: SLC9A1 (solute carrier family 9 member A1) Homo sapiens
Analyze
Symbol: SLC9A1
Name: solute carrier family 9 member A1
RGD ID: 736585
HGNC Page HGNC
Description: Enables calcium-dependent protein binding activity; protein phosphatase 2B binding activity; and sodium:proton antiporter activity. Involved in several processes, including cellular monovalent inorganic cation homeostasis; inorganic cation transmembrane transport; and regulation of heart contraction. Located in several cellular components, including membrane raft; nucleoplasm; and plasma membrane. Is integral component of plasma membrane. Part of cation-transporting ATPase complex. Implicated in autosomal recessive spinocerebellar ataxia 19 and congestive heart failure.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APNH; FLJ39602; FLJ42224; LIKNS; Na(+)/H(+) antiporter, amiloride-sensitive; Na(+)/H(+) exchanger 1; Na+/H+ antiporter, amiloride-sensitive; Na-Li countertransporter; NHE-1; NHE1; PPP1R143; sodium/hydrogen exchanger 1; solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive); solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive); solute carrier family 9 member 1; solute carrier family 9, member 1; solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl127,098,809 - 27,166,981 (-)EnsemblGRCh38hg38GRCh38
GRCh38127,098,809 - 27,155,125 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,425,300 - 27,481,616 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,297,894 - 27,353,990 (-)NCBINCBI36hg18NCBI36
Build 34127,109,448 - 27,165,543NCBI
Celera125,822,106 - 25,878,256 (-)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,679,019 - 25,736,027 (-)NCBIHuRef
CHM1_1127,539,712 - 27,596,211 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2-methylcholine  (EXP)
3-iodobenzyl-5'-N-methylcarboxamidoadenosine  (ISO)
8-Br-cAMP  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldosterone  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbachol  (ISO)
carbon dioxide  (ISO)
CGS-21680  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
DDT  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
digoxin  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
eplerenone  (ISO)
ethanol  (ISO)
ethylisopropylamiloride  (EXP,ISO)
folic acid  (ISO)
formaldehyde  (EXP)
hydrogen peroxide  (ISO)
ketamine  (ISO)
Licochalcone B  (EXP)
lithium atom  (EXP,ISO)
lithium hydride  (EXP,ISO)
mercaptoethanol  (ISO)
methapyrilene  (EXP)
nickel atom  (EXP)
ouabain  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenanthrolines  (ISO)
phenylephrine  (ISO)
phloretin  (EXP)
pirinixic acid  (ISO)
progesterone  (ISO)
quercetin  (EXP)
reactive nitrogen species  (ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium atom  (EXP)
sodium chloride  (EXP)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
tetrodotoxin  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zidovudine  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anion transmembrane transport  (IEA)
cardiac muscle cell contraction  (IEA,ISO)
cardiac muscle cell differentiation  (IEA,ISO)
cell differentiation  (ISO)
cell migration  (TAS)
cellular response to acidic pH  (IDA,ISS)
cellular response to antibiotic  (IEA,ISO)
cellular response to cold  (IEA,ISO)
cellular response to electrical stimulus  (IEA,ISO)
cellular response to epinephrine stimulus  (IMP)
cellular response to hypoxia  (IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (TAS)
cellular response to organic cyclic compound  (ISO)
cellular sodium ion homeostasis  (IDA)
ion transport  (TAS)
maintenance of cell polarity  (TAS)
negative regulation of apoptotic process  (IEA,ISO)
neuron death  (IEA,ISO)
positive regulation of action potential  (IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of calcineurin-NFAT signaling cascade  (IDA)
positive regulation of calcium:sodium antiporter activity  (IMP)
positive regulation of cardiac muscle hypertrophy  (IMP)
positive regulation of cell growth  (IEA,ISO)
positive regulation of intracellular signal transduction  (ISO)
positive regulation of mitochondrial membrane permeability  (IEA,ISO)
positive regulation of the force of heart contraction  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA)
potassium ion transmembrane transport  (IBA)
protein complex oligomerization  (ISS)
proton transmembrane transport  (IDA,IEA)
regulation of cardiac muscle cell membrane potential  (TAS)
regulation of cardiac muscle contraction by calcium ion signaling  (IMP)
regulation of focal adhesion assembly  (TAS)
regulation of intracellular pH  (IBA,IDA,ISO)
regulation of pH  (IDA,IEA,ISO,TAS)
regulation of sensory perception of pain  (IEA,ISO)
regulation of stress fiber assembly  (TAS)
regulation of the force of heart contraction  (ISO)
regulation of the force of heart contraction by cardiac conduction  (IMP)
response to acidic pH  (IDA,ISO)
response to muscle stretch  (IMP)
response to organic cyclic compound  (ISO)
sodium ion export across plasma membrane  (ISS)
sodium ion import across plasma membrane  (IBA,IDA)
sodium ion transmembrane transport  (IEA)
sodium ion transport  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Garciarena CD, etal., J Appl Physiol. 2009 Apr;106(4):1325-31. Epub 2009 Jan 29.
2. GOA_HUMAN data from the GO Consortium
3. Howarth FC, etal., Mol Cell Biochem. 2012 Feb;361(1-2):267-80. Epub 2011 Oct 19.
4. Huber JD, etal., J Med Chem. 2012 Jul 17.
5. Khan I, etal., Nephron 2002 Oct;92(2):346-55.
6. Li W, etal., Physiol Rep. 2019 Aug;7(13):e14142. doi: 10.14814/phy2.14142.
7. Li X, etal., J Biol Chem 2002 Aug 9;277(32):28656-62.
8. Lin M, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2012 May;32(5):734-7.
9. Lin X, etal., Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2010 Feb;27(1):132-7.
10. Lupachyk S, etal., Int J Mol Med. 2012 Jun;29(6):989-98. doi: 10.3892/ijmm.2012.933. Epub 2012 Mar 7.
11. Nakamura TY, etal., Circ Res. 2008 Oct 10;103(8):891-9. Epub 2008 Sep 5.
12. Park SL, etal., Brain Res. 2010 Dec 17;1366:189-96. Epub 2010 Sep 29.
13. Pipeline to import KEGG annotations from KEGG into RGD
14. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Vial G, etal., Mol Cell Biochem. 2008 Mar;310(1-2):93-102. Epub 2007 Dec 5.
19. Westhoff TH, etal., Physiol Genomics. 2005 Sep 21;23(1):46-53. Epub 2005 Jun 7.
20. Williams IA, etal., Pflugers Arch. 2007 Mar 14;.
21. Wu D, etal., Crit Care Med. 2009 Jun;37(6):1994-9.
Additional References at PubMed
PMID:1712287   PMID:1979310   PMID:2154036   PMID:2536298   PMID:2846238   PMID:8068684   PMID:8283968   PMID:8901634   PMID:9688597   PMID:10713111   PMID:10913675   PMID:11163215  
PMID:11279064   PMID:11350981   PMID:11369779   PMID:11604491   PMID:11696366   PMID:11852051   PMID:12065894   PMID:12138085   PMID:12226101   PMID:12477932   PMID:12479094   PMID:12549930  
PMID:12562776   PMID:12576672   PMID:12598940   PMID:12626508   PMID:12682826   PMID:12765964   PMID:12809501   PMID:12905871   PMID:14680478   PMID:14702039   PMID:15035633   PMID:15096511  
PMID:15105296   PMID:15253667   PMID:15269707   PMID:15465015   PMID:15489334   PMID:15523538   PMID:15535843   PMID:15610042   PMID:15677483   PMID:15772858   PMID:15823043   PMID:15843433  
PMID:16002403   PMID:16189514   PMID:16306134   PMID:16344560   PMID:16475831   PMID:16511206   PMID:16710297   PMID:16710414   PMID:16717153   PMID:16861220   PMID:17050540   PMID:17073455  
PMID:17167226   PMID:17209041   PMID:17332506   PMID:17339567   PMID:17349711   PMID:17565280   PMID:17662110   PMID:17894388   PMID:17913870   PMID:17916606   PMID:17943310   PMID:17981808  
PMID:17982256   PMID:18003619   PMID:18094063   PMID:18094149   PMID:18263712   PMID:18264982   PMID:18407588   PMID:18480176   PMID:18508719   PMID:18508767   PMID:18701649   PMID:18757828  
PMID:18996841   PMID:19176522   PMID:19199708   PMID:19301149   PMID:19479940   PMID:19622752   PMID:19835836   PMID:19854014   PMID:19876777   PMID:19887620   PMID:19958503   PMID:20138826  
PMID:20301317   PMID:20338684   PMID:20427472   PMID:20542029   PMID:20547664   PMID:20561412   PMID:20609358   PMID:20737315   PMID:20855896   PMID:20936779   PMID:20974853   PMID:21047280  
PMID:21063092   PMID:21148407   PMID:21170089   PMID:21185840   PMID:21221801   PMID:21261728   PMID:21345796   PMID:21349616   PMID:21359875   PMID:21392185   PMID:21413028   PMID:21423176  
PMID:21425832   PMID:21454803   PMID:21553168   PMID:21669197   PMID:21729545   PMID:21867601   PMID:21873635   PMID:21931166   PMID:21997166   PMID:22120673   PMID:22138972   PMID:22216126  
PMID:22270364   PMID:22301060   PMID:22494070   PMID:22688515   PMID:22718548   PMID:22772156   PMID:22922957   PMID:22939629   PMID:22984264   PMID:23184727   PMID:23220151   PMID:23224899  
PMID:23303189   PMID:23331996   PMID:23393197   PMID:23429007   PMID:23429008   PMID:23602949   PMID:23677982   PMID:23678047   PMID:23837875   PMID:23902689   PMID:24088894   PMID:24136992  
PMID:24337203   PMID:24378530   PMID:24434427   PMID:24594116   PMID:24717311   PMID:24840010   PMID:24874739   PMID:24891603   PMID:25043809   PMID:25162926   PMID:25190744   PMID:25205112  
PMID:25241983   PMID:25275700   PMID:25350536   PMID:25372487   PMID:25468996   PMID:25514463   PMID:25620102   PMID:25677682   PMID:25724898   PMID:25748234   PMID:25760855   PMID:25802333  
PMID:26186194   PMID:26234675   PMID:26397063   PMID:26439863   PMID:26496610   PMID:26638075   PMID:26646587   PMID:26775040   PMID:26819309   PMID:26821117   PMID:26944480   PMID:27049728  
PMID:27083547   PMID:27176613   PMID:27287871   PMID:27302366   PMID:27434882   PMID:27529686   PMID:27636896   PMID:27650500   PMID:27751915   PMID:27773735   PMID:27902974   PMID:28055960  
PMID:28098891   PMID:28268168   PMID:28432487   PMID:28514442   PMID:28554535   PMID:28806945   PMID:28925083   PMID:28986522   PMID:29395067   PMID:30018422   PMID:30033048   PMID:30044661  
PMID:30071192   PMID:30194290   PMID:30287853   PMID:30333031   PMID:30639242   PMID:30834261   PMID:30977986   PMID:31056421   PMID:31067690   PMID:31093311   PMID:31357694   PMID:31375679  
PMID:31527615   PMID:31561854   PMID:31723030   PMID:31912575   PMID:32469979   PMID:32703317   PMID:32788342   PMID:32841374   PMID:33201382   PMID:33273619   PMID:33804289   PMID:33845483  
PMID:34000263   PMID:34038242   PMID:34079125   PMID:34108458   PMID:34205045  


Genomics

Comparative Map Data
SLC9A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl127,098,809 - 27,166,981 (-)EnsemblGRCh38hg38GRCh38
GRCh38127,098,809 - 27,155,125 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,425,300 - 27,481,616 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,297,894 - 27,353,990 (-)NCBINCBI36hg18NCBI36
Build 34127,109,448 - 27,165,543NCBI
Celera125,822,106 - 25,878,256 (-)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,679,019 - 25,736,027 (-)NCBIHuRef
CHM1_1127,539,712 - 27,596,211 (-)NCBICHM1_1
Slc9a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394133,097,022 - 133,151,013 (+)NCBIGRCm39mm39
GRCm39 Ensembl4133,097,017 - 133,151,013 (+)Ensembl
GRCm384133,369,711 - 133,423,702 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4133,369,706 - 133,423,702 (+)EnsemblGRCm38mm10GRCm38
MGSCv374132,925,687 - 132,979,613 (+)NCBIGRCm37mm9NCBIm37
MGSCv364132,642,305 - 132,695,773 (+)NCBImm8
Celera4131,535,491 - 131,589,316 (+)NCBICelera
Cytogenetic Map4D2.3NCBI
cM Map466.25NCBI
Slc9a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25145,576,341 - 145,629,630 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl5145,576,334 - 145,629,624 (+)Ensembl
Rnor_6.05151,573,122 - 151,626,360 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5151,573,092 - 151,627,316 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05155,237,482 - 155,290,410 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45151,680,696 - 151,748,460 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15151,690,734 - 151,758,499 (-)NCBI
Celera5143,998,303 - 144,051,177 (+)NCBICelera
RH 3.4 Map5977.9RGD
Cytogenetic Map5q36NCBI
Slc9a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554526,409,833 - 6,467,841 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554526,409,833 - 6,467,841 (-)NCBIChiLan1.0ChiLan1.0
SLC9A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1127,414,937 - 27,475,089 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,414,937 - 27,475,089 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0126,359,818 - 26,418,910 (-)NCBIMhudiblu_PPA_v0panPan3
SLC9A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,054,742 - 73,103,364 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,054,742 - 73,103,364 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha269,631,268 - 69,679,864 (+)NCBI
ROS_Cfam_1.0273,616,211 - 73,664,827 (+)NCBI
UMICH_Zoey_3.1270,441,943 - 70,490,513 (+)NCBI
UNSW_CanFamBas_1.0271,447,299 - 71,495,908 (+)NCBI
UU_Cfam_GSD_1.0272,450,107 - 72,498,704 (+)NCBI
Slc9a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505845,635,479 - 45,692,666 (-)NCBI
SpeTri2.0NW_00493647411,460,266 - 11,517,420 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC9A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl684,372,649 - 84,426,997 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1684,373,921 - 84,426,447 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2677,944,221 - 77,996,927 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC9A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120105,613,289 - 105,670,868 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20105,613,338 - 105,674,208 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603310,772,194 - 10,834,851 (-)NCBIVero_WHO_p1.0
Slc9a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476411,041,118 - 11,095,892 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
DXS6996E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X46,459,067 - 46,459,136UniSTSGRCh37
Build 36X46,344,011 - 46,344,080RGDNCBI36
CeleraX50,650,909 - 50,650,978RGD
Cytogenetic Map1p36.1-p35UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX44,170,669 - 44,170,738UniSTS
GeneMap99-GB4 RH MapX137.51UniSTS
NCBI RH MapX174.0UniSTS
STS-S68616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,426,527 - 27,426,774UniSTSGRCh37
Build 36127,299,114 - 27,299,361RGDNCBI36
Celera125,823,333 - 25,823,580RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,680,246 - 25,680,493UniSTS
GeneMap99-GB4 RH Map193.17UniSTS
NCBI RH Map1142.5UniSTS
SHGC-53719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X46,459,685 - 46,459,904UniSTSGRCh37
Build 36X46,344,629 - 46,344,848RGDNCBI36
CeleraX50,651,527 - 50,651,746RGD
Cytogenetic Map1p36.1-p35UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX44,171,287 - 44,171,506UniSTS
TNG Radiation Hybrid MapX12165.0UniSTS
RH45589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,469,244 - 27,469,438UniSTSGRCh37
Build 36127,341,831 - 27,342,025RGDNCBI36
Celera125,866,048 - 25,866,242RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,723,650 - 25,723,844UniSTS
GDB:176410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,480,475 - 27,480,850UniSTSGRCh37
Build 36127,353,062 - 27,353,437RGDNCBI36
Celera125,877,280 - 25,877,655RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,734,881 - 25,735,256UniSTS
GDB:549196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,480,668 - 27,480,850UniSTSGRCh37
Build 36127,353,255 - 27,353,437RGDNCBI36
Celera125,877,473 - 25,877,655RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,735,074 - 25,735,256UniSTS
AL009835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,467,814 - 27,467,897UniSTSGRCh37
Build 36127,340,401 - 27,340,484RGDNCBI36
Celera125,864,618 - 25,864,701RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,722,220 - 25,722,303UniSTS
DXS6991E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X46,458,987 - 46,459,090UniSTSGRCh37
Build 36X46,343,931 - 46,344,034RGDNCBI36
CeleraX50,650,829 - 50,650,932RGD
Cytogenetic Map1p36.1-p35UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX44,170,589 - 44,170,692UniSTS
GeneMap99-GB4 RH MapX137.83UniSTS
SHGC-74483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371286,105,845 - 86,106,043UniSTSGRCh37
GRCh37127,425,410 - 27,425,606UniSTSGRCh37
Build 36127,297,997 - 27,298,193RGDNCBI36
Celera125,822,216 - 25,822,412RGD
Celera1285,768,537 - 85,768,735UniSTS
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,679,129 - 25,679,325UniSTS
HuRef1283,162,478 - 83,162,676UniSTS
TNG Radiation Hybrid Map111469.0UniSTS
GeneMap99-GB4 RH Map12344.36UniSTS
SHGC-74507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,469,292 - 27,469,534UniSTSGRCh37
Build 36127,341,879 - 27,342,121RGDNCBI36
Celera125,866,096 - 25,866,338RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,723,698 - 25,723,940UniSTS
TNG Radiation Hybrid Map111534.0UniSTS
GeneMap99-GB4 RH Map195.46UniSTS
NCBI RH Map1142.5UniSTS
D1S3323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,425,551 - 27,425,886UniSTSGRCh37
Build 36127,298,138 - 27,298,473RGDNCBI36
Celera125,822,357 - 25,822,692RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,679,270 - 25,679,605UniSTS
RH18372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X46,460,165 - 46,460,344UniSTSGRCh37
Build 36X46,345,109 - 46,345,288RGDNCBI36
CeleraX50,652,007 - 50,652,186RGD
Cytogenetic Map1p36.1-p35UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX44,171,767 - 44,171,946UniSTS
GeneMap99-GB4 RH MapX137.83UniSTS
STS-R72385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,425,352 - 27,425,526UniSTSGRCh37
Build 36127,297,939 - 27,298,113RGDNCBI36
Celera125,822,158 - 25,822,332RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef125,679,071 - 25,679,245UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
SLC9A1_3868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,425,226 - 27,426,050UniSTSGRCh37
Build 36127,297,813 - 27,298,637RGDNCBI36
Celera125,822,032 - 25,822,856RGD
HuRef125,678,945 - 25,679,769UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3013
Count of miRNA genes:957
Interacting mature miRNAs:1180
Transcripts:ENST00000263980, ENST00000374084, ENST00000374086, ENST00000374089, ENST00000447808, ENST00000490329, ENST00000545949
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2323 2285 1270 201 1594 46 3409 951 2433 276 1421 1584 168 1064 1919 4
Low 109 699 452 420 353 417 946 1242 1275 142 27 24 3 140 869
Below cutoff 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF141350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF141359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ775239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ775318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA313453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA853045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263980   ⟹   ENSP00000263980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,098,809 - 27,155,125 (-)Ensembl
RefSeq Acc Id: ENST00000374084   ⟹   ENSP00000363197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,114,233 - 27,166,981 (-)Ensembl
RefSeq Acc Id: ENST00000374086   ⟹   ENSP00000363199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,105,451 - 27,154,598 (-)Ensembl
RefSeq Acc Id: ENST00000374089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,098,815 - 27,104,022 (-)Ensembl
RefSeq Acc Id: ENST00000447808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,100,345 - 27,102,795 (-)Ensembl
RefSeq Acc Id: ENST00000490329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,098,816 - 27,099,682 (-)Ensembl
RefSeq Acc Id: NM_003047   ⟹   NP_003038
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,098,809 - 27,155,125 (-)NCBI
GRCh37127,425,300 - 27,481,621 (-)NCBI
Build 36127,297,894 - 27,353,990 (-)NCBI Archive
HuRef125,679,019 - 25,736,027 (-)NCBI
CHM1_1127,539,712 - 27,596,211 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046474
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,098,809 - 27,155,125 (-)NCBI
HuRef125,679,019 - 25,736,027 (-)NCBI
CHM1_1127,539,712 - 27,596,211 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542021   ⟹   XP_011540323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,098,809 - 27,154,046 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003038 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540323 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB59460 (Get FASTA)   NCBI Sequence Viewer  
  AAC60606 (Get FASTA)   NCBI Sequence Viewer  
  AAF21350 (Get FASTA)   NCBI Sequence Viewer  
  AAF21351 (Get FASTA)   NCBI Sequence Viewer  
  AAF21352 (Get FASTA)   NCBI Sequence Viewer  
  AAF21353 (Get FASTA)   NCBI Sequence Viewer  
  AAF21354 (Get FASTA)   NCBI Sequence Viewer  
  AAF21355 (Get FASTA)   NCBI Sequence Viewer  
  AAF21356 (Get FASTA)   NCBI Sequence Viewer  
  AAF21357 (Get FASTA)   NCBI Sequence Viewer  
  AAF21358 (Get FASTA)   NCBI Sequence Viewer  
  AAF21359 (Get FASTA)   NCBI Sequence Viewer  
  AAF25592 (Get FASTA)   NCBI Sequence Viewer  
  AAF25593 (Get FASTA)   NCBI Sequence Viewer  
  AAF25594 (Get FASTA)   NCBI Sequence Viewer  
  AAF25595 (Get FASTA)   NCBI Sequence Viewer  
  AAF25596 (Get FASTA)   NCBI Sequence Viewer  
  AAF25597 (Get FASTA)   NCBI Sequence Viewer  
  AAF25598 (Get FASTA)   NCBI Sequence Viewer  
  AAF25599 (Get FASTA)   NCBI Sequence Viewer  
  AAF25600 (Get FASTA)   NCBI Sequence Viewer  
  AAF25601 (Get FASTA)   NCBI Sequence Viewer  
  AAH12121 (Get FASTA)   NCBI Sequence Viewer  
  BAG36869 (Get FASTA)   NCBI Sequence Viewer  
  BAG62158 (Get FASTA)   NCBI Sequence Viewer  
  CBX47581 (Get FASTA)   NCBI Sequence Viewer  
  EAX07773 (Get FASTA)   NCBI Sequence Viewer  
  EAX07774 (Get FASTA)   NCBI Sequence Viewer  
  EAX07775 (Get FASTA)   NCBI Sequence Viewer  
  P19634 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003038   ⟸   NM_003047
- UniProtKB: P19634 (UniProtKB/Swiss-Prot),   B2RAH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540323   ⟸   XM_011542021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000363197   ⟸   ENST00000374084
RefSeq Acc Id: ENSP00000363199   ⟸   ENST00000374086
RefSeq Acc Id: ENSP00000263980   ⟸   ENST00000263980
Protein Domains
Na_H_Exchanger   NEXCaM_BD

Promoters
RGD ID:6854668
Promoter ID:EPDNEW_H499
Type:initiation region
Name:SLC9A1_1
Description:solute carrier family 9 member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H500  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,154,629 - 27,154,689EPDNEW
RGD ID:6854754
Promoter ID:EPDNEW_H500
Type:initiation region
Name:SLC9A1_2
Description:solute carrier family 9 member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H499  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,154,821 - 27,154,881EPDNEW
RGD ID:6786884
Promoter ID:HG_KWN:1549
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000374089,   OTTHUMT00000096875
Position:
Human AssemblyChrPosition (strand)Source
Build 36127,301,681 - 27,302,181 (-)MPROMDB
RGD ID:6786885
Promoter ID:HG_KWN:1550
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003047,   UC001BNN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36127,353,061 - 27,354,217 (-)MPROMDB
RGD ID:6849698
Promoter ID:EP40005
Type:single initiation site
Name:HS_SLC9A1
Description:Na/H exchanger NHE-1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:ubiquitous
Experiment Methods:Nuclease protection; Primer extension with homologous sequence ladder
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3 copy number gain See cases [RCV000051801] Chr1:26963045..32279045 [GRCh38]
Chr1:27289536..32744646 [GRCh37]
Chr1:27162123..32517233 [NCBI36]
Chr1:1p36.11-35.2
pathogenic
GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1 copy number loss See cases [RCV000053799] Chr1:26807012..27685191 [GRCh38]
Chr1:27133503..28011702 [GRCh37]
Chr1:27006090..27884289 [NCBI36]
Chr1:1p36.11-35.3
pathogenic
NM_003047.4(SLC9A1):c.1684C>T (p.Leu562=) single nucleotide variant Malignant melanoma [RCV000064698] Chr1:27102521 [GRCh38]
Chr1:27429012 [GRCh37]
Chr1:27301599 [NCBI36]
Chr1:1p36.11
not provided
NM_003047.4(SLC9A1):c.960C>T (p.Ser320=) single nucleotide variant Malignant melanoma [RCV000064699] Chr1:27109631 [GRCh38]
Chr1:27436122 [GRCh37]
Chr1:27308709 [NCBI36]
Chr1:1p36.11
not provided
NM_003047.5(SLC9A1):c.1391C>T (p.Ser464Phe) single nucleotide variant not provided [RCV000190486] Chr1:27105979 [GRCh38]
Chr1:27432470 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1 copy number loss See cases [RCV000137657] Chr1:26854636..27645829 [GRCh38]
Chr1:27181127..27972340 [GRCh37]
Chr1:27053714..27844927 [NCBI36]
Chr1:1p36.11-35.3
uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) single nucleotide variant Lichtenstein-knorr syndrome [RCV000169735] Chr1:27109678 [GRCh38]
Chr1:27436169 [GRCh37]
Chr1:1p36.11
pathogenic|not provided
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_003047.5(SLC9A1):c.1351A>C (p.Ile451Leu) single nucleotide variant Inborn genetic diseases [RCV000623112] Chr1:27106019 [GRCh38]
Chr1:27432510 [GRCh37]
Chr1:1p36.11
likely pathogenic
GRCh37/hg19 1p36.11(chr1:27119557-27547784)x3 copy number gain See cases [RCV000448699] Chr1:27119557..27547784 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_003047.5(SLC9A1):c.1585C>T (p.His529Tyr) single nucleotide variant Inborn genetic diseases [RCV000624141] Chr1:27102734 [GRCh38]
Chr1:27429225 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
Single allele deletion Cerebellar ataxia, nonprogressive, with mental retardation [RCV000735906] Chr1:27415001..27452000 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_003047.5(SLC9A1):c.519G>A (p.Ala173=) single nucleotide variant not provided [RCV000963749] Chr1:27114120 [GRCh38]
Chr1:27440611 [GRCh37]
Chr1:1p36.11
benign
NM_003047.5(SLC9A1):c.1147del (p.Phe382_Leu383insTer) deletion not provided [RCV000761648] Chr1:27107783 [GRCh38]
Chr1:27434274 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_003047.5(SLC9A1):c.2129C>T (p.Pro710Leu) single nucleotide variant not provided [RCV000993962] Chr1:27100626 [GRCh38]
Chr1:27427117 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_003047.5(SLC9A1):c.1807_1809del (p.Thr603del) deletion not provided [RCV000958471] Chr1:27102396..27102398 [GRCh38]
Chr1:27428887..27428889 [GRCh37]
Chr1:1p36.11
benign
NM_003047.5(SLC9A1):c.1821-5C>T single nucleotide variant not provided [RCV000901007] Chr1:27102135 [GRCh38]
Chr1:27428626 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.630C>T (p.Ala210=) single nucleotide variant not provided [RCV000976848] Chr1:27114009 [GRCh38]
Chr1:27440500 [GRCh37]
Chr1:1p36.11
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_003047.5(SLC9A1):c.2103C>T (p.Ile701=) single nucleotide variant not provided [RCV000938559] Chr1:27101210 [GRCh38]
Chr1:27427701 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.501G>A (p.Pro167=) single nucleotide variant not provided [RCV000918483] Chr1:27114138 [GRCh38]
Chr1:27440629 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=) single nucleotide variant not provided [RCV000964159] Chr1:27106014 [GRCh38]
Chr1:27432505 [GRCh37]
Chr1:1p36.11
benign
NM_003047.5(SLC9A1):c.353-5C>T single nucleotide variant not provided [RCV000950362] Chr1:27114291 [GRCh38]
Chr1:27440782 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.627C>T (p.Tyr209=) single nucleotide variant not provided [RCV000901928] Chr1:27114012 [GRCh38]
Chr1:27440503 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1486-8dup duplication not provided [RCV000967733] Chr1:27103314..27103315 [GRCh38]
Chr1:27429805..27429806 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.226C>T (p.His76Tyr) single nucleotide variant not provided [RCV000993964] Chr1:27154109 [GRCh38]
Chr1:27480600 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) single nucleotide variant Lichtenstein-knorr syndrome [RCV000791123] Chr1:27109735 [GRCh38]
Chr1:27436226 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_003047.5(SLC9A1):c.1977C>T (p.Tyr659=) single nucleotide variant not provided [RCV000915118] Chr1:27101785 [GRCh38]
Chr1:27428276 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1576-7C>G single nucleotide variant not provided [RCV000914158] Chr1:27102750 [GRCh38]
Chr1:27429241 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.799G>A (p.Asp267Asn) single nucleotide variant not provided [RCV000993963] Chr1:27113840 [GRCh38]
Chr1:27440331 [GRCh37]
Chr1:1p36.11
uncertain significance
null single nucleotide variant not provided [RCV001663329] Chr1:27154266 [GRCh38]
Chr1:27480757 [GRCh37]
Chr1:1p36.11
benign
NM_003047.5(SLC9A1):c.1647-15TCC[2] microsatellite not provided [RCV000918443] Chr1:27102565..27102567 [GRCh38]
Chr1:27429056..27429058 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1282+10A>T single nucleotide variant not provided [RCV000939550] Chr1:27107638 [GRCh38]
Chr1:27434129 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.496C>T (p.Leu166=) single nucleotide variant not provided [RCV000919145] Chr1:27114143 [GRCh38]
Chr1:27440634 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) single nucleotide variant not provided [RCV000886097] Chr1:27102130 [GRCh38]
Chr1:27428621 [GRCh37]
Chr1:1p36.11
benign
NM_003047.5(SLC9A1):c.903G>T (p.Val301=) single nucleotide variant not provided [RCV000907968] Chr1:27109688 [GRCh38]
Chr1:27436179 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.2086A>G (p.Met696Val) single nucleotide variant not provided [RCV000888215] Chr1:27101227 [GRCh38]
Chr1:27427718 [GRCh37]
Chr1:1p36.11
benign
NM_003047.5(SLC9A1):c.1968A>C (p.Ala656=) single nucleotide variant not provided [RCV000941499] Chr1:27101794 [GRCh38]
Chr1:27428285 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1848C>G (p.Ser616=) single nucleotide variant not provided [RCV000916617] Chr1:27102103 [GRCh38]
Chr1:27428594 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1486-4C>G single nucleotide variant not provided [RCV000899636] Chr1:27103316 [GRCh38]
Chr1:27429807 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.615C>T (p.Gly205=) single nucleotide variant not provided [RCV000912300] Chr1:27114024 [GRCh38]
Chr1:27440515 [GRCh37]
Chr1:1p36.11
likely benign
NM_003047.5(SLC9A1):c.1773C>T (p.Ser591=) single nucleotide variant not provided [RCV000934936] Chr1:27102432 [GRCh38]
Chr1:27428923 [GRCh37]
Chr1:1p36.11
benign
NM_004945.3(DNM2):c.162-7C>T single nucleotide variant not provided [RCV001722791] Chr1:27101830 [GRCh38]
Chr1:27428321 [GRCh37]
benign
NM_003047.5(SLC9A1):c.862del (p.Ile288fs) deletion Lichtenstein-knorr syndrome [RCV001256015] Chr1:27109729 [GRCh38]
Chr1:27436220 [GRCh37]
Chr1:1p36.11
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11071 AgrOrtholog
COSMIC SLC9A1 COSMIC
Ensembl Genes ENSG00000090020 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363197 UniProtKB/TrEMBL
  ENSP00000363199 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374084 UniProtKB/TrEMBL
  ENST00000374086 UniProtKB/Swiss-Prot
GTEx ENSG00000090020 GTEx
HGNC ID HGNC:11071 ENTREZGENE
Human Proteome Map SLC9A1 Human Proteome Map
InterPro Cation/H_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation/H_exchanger_CPA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/H_exchanger_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NaH_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHE_CaM-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6548 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6548 ENTREZGENE
OMIM 107310 OMIM
  616291 OMIM
PANTHER PTHR10110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10110:SF59 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_H_Exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEXCaM_BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35928 PharmGKB
PRINTS NAHEXCHNGR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAHEXCHNGR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs b_cpa1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1ALD5_HUMAN UniProtKB/TrEMBL
  B2RAH2 ENTREZGENE, UniProtKB/TrEMBL
  P19634 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B1ALD6 UniProtKB/Swiss-Prot
  D3DPL4 UniProtKB/Swiss-Prot
  Q96EM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 SLC9A1  solute carrier family 9 member A1    solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1  Symbol and/or name change 5135510 APPROVED
2012-03-27 SLC9A1  solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1  SLC9A1  solute carrier family 9 (sodium/hydrogen exchanger), member 1  Symbol and/or name change 5135510 APPROVED
2011-09-27 SLC9A1  solute carrier family 9 (sodium/hydrogen exchanger), member 1  SLC9A1  solute carrier family 9 (sodium/hydrogen exchanger), member 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 SLC9A1  solute carrier family 9 (sodium/hydrogen exchanger), member 1  SLC9A1  solute carrier family 9 (sodium/hydrogen exchanger), member 1  Symbol and/or name change 5135510 APPROVED