FXYD1 (FXYD domain containing ion transport regulator 1) - Rat Genome Database

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Gene: FXYD1 (FXYD domain containing ion transport regulator 1) Homo sapiens
Analyze
Symbol: FXYD1
Name: FXYD domain containing ion transport regulator 1
RGD ID: 734187
HGNC Page HGNC:4025
Description: Predicted to enable sodium channel regulator activity and transmembrane transporter binding activity. Predicted to be involved in negative regulation of protein glutathionylation; regulation of cardiac muscle cell membrane potential; and regulation of sodium ion transmembrane transport. Predicted to be located in several cellular components, including T-tubule; caveola; and intercalated disc. Predicted to be part of sodium:potassium-exchanging ATPase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FXYD domain containing ion transport regulator 1 (phospholemman); fxyd domain-containing ion transport regulator 1; MGC44983; phospholemman; PLM; sodium/potassium-transporting ATPase subunit FXYD1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,137,188 - 35,143,109 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,138,824 - 35,143,109 (+)EnsemblGRCh38hg38GRCh38
GRCh371935,629,728 - 35,634,013 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,321,572 - 40,325,794 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,321,571 - 40,325,793NCBI
Celera1932,343,168 - 32,347,389 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,137,604 - 32,141,943 (+)NCBIHuRef
CHM1_11935,631,706 - 35,635,892 (+)NCBICHM1_1
T2T-CHM13v2.01937,681,906 - 37,687,737 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amosite asbestos  (EXP)
amphetamine  (ISO)
ampicillin  (EXP)
Ampullosporin  (ISO)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
caffeine  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dibenzo[a,l]pyrene  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
ethylparaben  (EXP)
fenthion  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
lead(0)  (EXP)
Mesaconitine  (ISO)
methimazole  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
pioglitazone  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rotenone  (ISO)
sodium arsenite  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1. Chen LS, etal., Genomics 1997 May 1;41(3):435-43.
2. Overexpression of the Na+/K+ ATPase alpha2 but not alpha1 isoform attenuates pathological cardiac hypertrophy and remodeling. Correll RN, etal., Circ Res. 2014 Jan 17;114(2):249-56. doi: 10.1161/CIRCRESAHA.114.302293. Epub 2013 Nov 11.
3. Ischemia-induced phosphorylation of phospholemman directly activates rat cardiac Na/K-ATPase. Fuller W, etal., FASEB J. 2004 Jan;18(1):197-9. Epub 2003 Nov 3.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Protein Phosphatase 1c Associated with the Cardiac Sodium Calcium Exchanger 1 Regulates Its Activity by Dephosphorylating Serine 68-phosphorylated Phospholemman. Hafver TL, etal., J Biol Chem. 2016 Feb 26;291(9):4561-79. doi: 10.1074/jbc.M115.677898. Epub 2015 Dec 14.
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7999001   PMID:8889548   PMID:10087003   PMID:10811636   PMID:10950925   PMID:12477932   PMID:12535606   PMID:15489334   PMID:16288923   PMID:16341674   PMID:16921169   PMID:17309881  
PMID:18000745   PMID:18052210   PMID:19638348   PMID:19683723   PMID:19879113   PMID:20065300   PMID:20371314   PMID:20720179   PMID:20861470   PMID:21130070   PMID:21220422   PMID:21449573  
PMID:21849407   PMID:21873635   PMID:21957166   PMID:22275761   PMID:22535957   PMID:23224879   PMID:23672825   PMID:24104479   PMID:25051342   PMID:26410457   PMID:26429909   PMID:26791827  
PMID:27247424   PMID:28514442   PMID:29383885   PMID:33231612   PMID:33961781   PMID:34270462  


Genomics

Comparative Map Data
FXYD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,137,188 - 35,143,109 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,138,824 - 35,143,109 (+)EnsemblGRCh38hg38GRCh38
GRCh371935,629,728 - 35,634,013 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,321,572 - 40,325,794 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,321,571 - 40,325,793NCBI
Celera1932,343,168 - 32,347,389 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,137,604 - 32,141,943 (+)NCBIHuRef
CHM1_11935,631,706 - 35,635,892 (+)NCBICHM1_1
T2T-CHM13v2.01937,681,906 - 37,687,737 (+)NCBIT2T-CHM13v2.0
Fxyd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,751,103 - 30,758,332 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,751,103 - 30,756,624 (-)EnsemblGRCm39 Ensembl
GRCm38731,051,678 - 31,055,873 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl731,051,678 - 31,057,199 (-)EnsemblGRCm38mm10GRCm38
MGSCv37731,836,697 - 31,840,675 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,760,440 - 30,764,415 (-)NCBIMGSCv36mm8
Celera725,619,198 - 25,623,176 (-)NCBICelera
Cytogenetic Map7B1NCBI
cM Map719.29NCBI
Fxyd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8195,414,556 - 95,418,645 (-)NCBIGRCr8
mRatBN7.2186,287,163 - 86,291,478 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl186,287,165 - 86,291,278 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx191,707,554 - 91,711,603 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01100,173,699 - 100,177,749 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0193,465,832 - 93,469,879 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0189,484,197 - 89,488,279 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl189,484,199 - 89,488,223 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0190,639,290 - 90,643,385 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4186,095,551 - 86,098,079 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1186,173,662 - 86,176,167 (-)NCBI
Celera180,656,116 - 80,660,202 (-)NCBICelera
Cytogenetic Map1q21NCBI
Fxyd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554684,457,985 - 4,460,528 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554684,456,909 - 4,460,895 (+)NCBIChiLan1.0ChiLan1.0
FXYD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22041,151,080 - 41,155,360 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11943,134,412 - 43,138,681 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01932,080,180 - 32,089,141 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11940,821,536 - 40,827,352 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1940,824,448 - 40,827,039 (+)Ensemblpanpan1.1panPan2
FXYD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11117,436,239 - 117,440,619 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1117,430,865 - 117,439,718 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,836,898 - 116,841,243 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01118,033,833 - 118,038,215 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1118,033,833 - 118,037,313 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11117,596,446 - 117,600,789 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01117,221,771 - 117,226,106 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01118,278,254 - 118,282,589 (-)NCBIUU_Cfam_GSD_1.0
Fxyd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934910,526,623 - 10,528,799 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365701,117,816 - 1,118,860 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365701,117,083 - 1,121,059 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FXYD7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1644,668,591 - 44,681,846 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,067,196 - 40,071,693 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FXYD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,071,852 - 30,076,012 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl630,073,136 - 30,075,699 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660737,845,205 - 7,849,364 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fxyd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247948,368,519 - 8,371,764 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247948,368,519 - 8,372,480 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FXYD1
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12		 pathogenic
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3 copy number gain Breast ductal adenocarcinoma [RCV000207175] Chr19:35516999..35990896 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
Single allele deletion Dystonic disorder [RCV001003865] Chr19:35553425..36264299 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:35043556..36316644 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.12(chr19:35548527-35772471)x3 copy number gain not provided [RCV000848432] Chr19:35548527..35772471 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1 copy number loss not provided [RCV000845987] Chr19:35613953..36183886 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
NM_021902.4(FXYD1):c.223G>A (p.Glu75Lys) single nucleotide variant not specified [RCV004298921] Chr19:35142488 [GRCh38]
Chr19:35633392 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NC_000019.9:g.(?_35521725)_(36643309_?)del deletion Brugada syndrome 5 [RCV001910265] Chr19:35521725..36643309 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36054531_?)dup duplication Brugada syndrome 5 [RCV001906345] Chr19:35521725..36054531 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36229458_?)del deletion not provided [RCV001975081] Chr19:35521725..36229458 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_021902.4(FXYD1):c.56A>G (p.Lys19Arg) single nucleotide variant not specified [RCV004203784] Chr19:35140135 [GRCh38]
Chr19:35631039 [GRCh37]
Chr19:19q13.12		 uncertain significance
Single allele deletion not provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 copy number loss not provided [RCV004577477] Chr19:35223021..36895699 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_021902.4(FXYD1):c.79G>C (p.Asp27His) single nucleotide variant not specified [RCV004618898] Chr19:35140614 [GRCh38]
Chr19:35631518 [GRCh37]
Chr19:19q13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3551
Count of miRNA genes:711
Interacting mature miRNAs:867
Transcripts:ENST00000351325, ENST00000455515, ENST00000587056, ENST00000588081, ENST00000588607, ENST00000588715, ENST00000589121, ENST00000589209, ENST00000590462, ENST00000592818
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
D19S208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,630,082 - 35,630,294UniSTSGRCh37
GRCh371935,630,080 - 35,630,250UniSTSGRCh37
Build 361940,321,922 - 40,322,134RGDNCBI36
Celera1932,343,516 - 32,343,684UniSTS
Celera1932,343,518 - 32,343,728RGD
Cytogenetic Map19q13.1UniSTS
Marshfield Genetic Map1959.36RGD
Marshfield Genetic Map1959.36UniSTS
Genethon Genetic Map1958.7UniSTS
TNG Radiation Hybrid Map1912588.0UniSTS
deCODE Assembly Map1960.96UniSTS
Stanford-G3 RH Map191481.0UniSTS
GeneMap99-GB4 RH Map19216.04UniSTS
GeneMap99-G3 RH Map191492.0UniSTS
D19S208  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.1UniSTS
TNG Radiation Hybrid Map1912588.0UniSTS
Stanford-G3 RH Map191481.0UniSTS
GeneMap99-G3 RH Map191492.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2382 2788 2243 4931 1708 2235 4 616 1533 455 2263 6801 6052 36 3686 1 812 1691 1512 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA524547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM691130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM856555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX115036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS488920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ258667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H57207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY107209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY111815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY151101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY151827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R46545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R72515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000351325   ⟹   ENSP00000343314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,138,824 - 35,143,109 (+)Ensembl
Ensembl Acc Id: ENST00000455515   ⟹   ENSP00000393611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,139,441 - 35,143,050 (+)Ensembl
Ensembl Acc Id: ENST00000587056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,139,913 - 35,141,249 (+)Ensembl
Ensembl Acc Id: ENST00000588081   ⟹   ENSP00000467727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,140,022 - 35,143,050 (+)Ensembl
Ensembl Acc Id: ENST00000588607   ⟹   ENSP00000468535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,139,738 - 35,143,036 (+)Ensembl
Ensembl Acc Id: ENST00000588715   ⟹   ENSP00000465289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,139,726 - 35,143,048 (+)Ensembl
Ensembl Acc Id: ENST00000589121   ⟹   ENSP00000467818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,140,105 - 35,143,052 (+)Ensembl
Ensembl Acc Id: ENST00000589209   ⟹   ENSP00000466398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,139,118 - 35,142,772 (+)Ensembl
Ensembl Acc Id: ENST00000590462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,140,865 - 35,143,055 (+)Ensembl
Ensembl Acc Id: ENST00000592818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,138,841 - 35,143,035 (+)Ensembl
Ensembl Acc Id: ENST00000612146   ⟹   ENSP00000481244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,138,993 - 35,143,054 (+)Ensembl
RefSeq Acc Id: NM_001278717   ⟹   NP_001265646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,139,135 - 35,143,109 (+)NCBI
GRCh371935,629,693 - 35,633,959 (+)NCBI
HuRef1932,137,604 - 32,141,943 (+)NCBI
CHM1_11935,631,910 - 35,635,892 (+)NCBI
T2T-CHM13v2.01937,683,814 - 37,687,737 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278718   ⟹   NP_001265647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,139,634 - 35,143,109 (+)NCBI
GRCh371935,629,693 - 35,633,959 (+)NCBI
HuRef1932,137,604 - 32,141,943 (+)NCBI
CHM1_11935,632,551 - 35,635,892 (+)NCBI
T2T-CHM13v2.01937,684,309 - 37,687,737 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005031   ⟹   NP_005022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,139,422 - 35,143,109 (+)NCBI
GRCh371935,629,693 - 35,633,959 (+)NCBI
Build 361940,322,232 - 40,325,794 (+)NCBI Archive
HuRef1932,137,604 - 32,141,943 (+)NCBI
CHM1_11935,632,376 - 35,635,892 (+)NCBI
T2T-CHM13v2.01937,684,097 - 37,687,737 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021902   ⟹   NP_068702
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,138,824 - 35,143,109 (+)NCBI
Build 361940,321,572 - 40,325,794 (+)NCBI Archive
HuRef1932,137,604 - 32,141,943 (+)NCBI
CHM1_11935,631,706 - 35,635,892 (+)NCBI
T2T-CHM13v2.01937,683,503 - 37,687,737 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026874   ⟹   XP_016882363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,137,188 - 35,143,109 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026875   ⟹   XP_016882364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,139,634 - 35,143,109 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026876   ⟹   XP_016882365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,139,634 - 35,143,109 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438938   ⟹   XP_047294894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,138,824 - 35,143,052 (+)NCBI
RefSeq Acc Id: XM_054321219   ⟹   XP_054177194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,683,503 - 37,687,680 (+)NCBI
RefSeq Acc Id: XM_054321220   ⟹   XP_054177195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,681,906 - 37,687,737 (+)NCBI
RefSeq Acc Id: XM_054321221   ⟹   XP_054177196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,684,309 - 37,687,737 (+)NCBI
RefSeq Acc Id: XM_054321222   ⟹   XP_054177197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01937,684,309 - 37,687,737 (+)NCBI
RefSeq Acc Id: NP_068702   ⟸   NM_021902
- Peptide Label: precursor
- UniProtKB: A8K196 (UniProtKB/Swiss-Prot),   O00168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005022   ⟸   NM_005031
- Peptide Label: precursor
- UniProtKB: A8K196 (UniProtKB/Swiss-Prot),   O00168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265646   ⟸   NM_001278717
- Peptide Label: precursor
- UniProtKB: A8K196 (UniProtKB/Swiss-Prot),   O00168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265647   ⟸   NM_001278718
- Peptide Label: precursor
- UniProtKB: A8K196 (UniProtKB/Swiss-Prot),   O00168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882363   ⟸   XM_017026874
- Peptide Label: isoform X1
- UniProtKB: A8K196 (UniProtKB/Swiss-Prot),   O00168 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882364   ⟸   XM_017026875
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016882365   ⟸   XM_017026876
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000481244   ⟸   ENST00000612146
Ensembl Acc Id: ENSP00000393611   ⟸   ENST00000455515
Ensembl Acc Id: ENSP00000467727   ⟸   ENST00000588081
Ensembl Acc Id: ENSP00000465289   ⟸   ENST00000588715
Ensembl Acc Id: ENSP00000468535   ⟸   ENST00000588607
Ensembl Acc Id: ENSP00000466398   ⟸   ENST00000589209
Ensembl Acc Id: ENSP00000467818   ⟸   ENST00000589121
Ensembl Acc Id: ENSP00000343314   ⟸   ENST00000351325
RefSeq Acc Id: XP_047294894   ⟸   XM_047438938
- Peptide Label: isoform X1
- UniProtKB: O00168 (UniProtKB/Swiss-Prot),   A8K196 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177195   ⟸   XM_054321220
- Peptide Label: isoform X1
- UniProtKB: O00168 (UniProtKB/Swiss-Prot),   A8K196 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177194   ⟸   XM_054321219
- Peptide Label: isoform X1
- UniProtKB: O00168 (UniProtKB/Swiss-Prot),   A8K196 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177196   ⟸   XM_054321221
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177197   ⟸   XM_054321222
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00168-F1-model_v2 AlphaFold O00168 1-92 view protein structure

Promoters
RGD ID:7239481
Promoter ID:EPDNEW_H25486
Type:initiation region
Name:FXYD1_2
Description:FXYD domain containing ion transport regulator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25487  EPDNEW_H25488  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,137,206 - 35,137,266EPDNEW
RGD ID:7239483
Promoter ID:EPDNEW_H25487
Type:initiation region
Name:FXYD1_1
Description:FXYD domain containing ion transport regulator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25486  EPDNEW_H25488  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,138,824 - 35,138,884EPDNEW
RGD ID:7239485
Promoter ID:EPDNEW_H25488
Type:initiation region
Name:FXYD1_3
Description:FXYD domain containing ion transport regulator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25486  EPDNEW_H25487  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,139,982 - 35,140,042EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4025 AgrOrtholog
COSMIC FXYD1 COSMIC
Ensembl Genes ENSG00000266964 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000351325 ENTREZGENE
  ENST00000351325.9 UniProtKB/Swiss-Prot
  ENST00000455515 ENTREZGENE
  ENST00000455515.6 UniProtKB/Swiss-Prot
  ENST00000588081 ENTREZGENE
  ENST00000588081.5 UniProtKB/Swiss-Prot
  ENST00000588607 ENTREZGENE
  ENST00000588607.5 UniProtKB/Swiss-Prot
  ENST00000588715 ENTREZGENE
  ENST00000588715.5 UniProtKB/Swiss-Prot
  ENST00000589121.1 UniProtKB/TrEMBL
  ENST00000589209.5 UniProtKB/Swiss-Prot
  ENST00000612146 ENTREZGENE
  ENST00000612146.4 UniProtKB/Swiss-Prot
Gene3D-CATH Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000266964 GTEx
HGNC ID HGNC:4025 ENTREZGENE
Human Proteome Map FXYD1 Human Proteome Map
InterPro FXYD_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion-transport_regulator_FXYD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5348 UniProtKB/Swiss-Prot
NCBI Gene 5348 ENTREZGENE
OMIM 602359 OMIM
PANTHER PHOSPHOLEMMAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SODIUM/POTASSIUM-TRANSPORTING ATPASE SUBUNIT GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ATP1G1_PLM_MAT8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28441 PharmGKB
PROSITE FXYD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K196 ENTREZGENE
  C7E9P5_HUMAN UniProtKB/TrEMBL
  K7EQG4_HUMAN UniProtKB/TrEMBL
  O00168 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K196 UniProtKB/Swiss-Prot