Details for: ATP1A1

Gene ID: 476

Symbol: ATP1A1

Ensembl ID: ENSG00000163399

Description: ATPase Na+/K+ transporting subunit alpha 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.34
    Marker Score: 11622
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 4.07
    Marker Score: 4318
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 3.87
    Marker Score: 3029
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 3.37
    Marker Score: 21946
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 3.31
    Marker Score: 8338
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.25
    Marker Score: 24202
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 3.22
    Marker Score: 3474
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 3.21
    Marker Score: 10079
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 3.09
    Marker Score: 3718
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.05
    Marker Score: 3255
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.04
    Marker Score: 6935
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 3.04
    Marker Score: 4302
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 3.04
    Marker Score: 4832
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.02
    Marker Score: 7385
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 3.02
    Marker Score: 102788
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.99
    Marker Score: 4954
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 2.93
    Marker Score: 15405
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.89
    Marker Score: 3042
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.82
    Marker Score: 4536
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 2.82
    Marker Score: 1504.5
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.81
    Marker Score: 2488
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.79
    Marker Score: 13383
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.77
    Marker Score: 1855
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.77
    Marker Score: 1612
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.75
    Marker Score: 2785
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 2.73
    Marker Score: 4990
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 2.72
    Marker Score: 1272
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.69
    Marker Score: 3245
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 2.66
    Marker Score: 2264
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.65
    Marker Score: 4082
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.61
    Marker Score: 2463
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.58
    Marker Score: 820
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.56
    Marker Score: 41071
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.55
    Marker Score: 9846
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.52
    Marker Score: 1326
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.5
    Marker Score: 21747
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.48
    Marker Score: 4200
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.46
    Marker Score: 3178
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 2.46
    Marker Score: 3408
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.45
    Marker Score: 2959
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.42
    Marker Score: 11910
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 2.42
    Marker Score: 768
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.42
    Marker Score: 4291
  • Cell Name: club cell (CL0000158)
    Fold Change: 2.41
    Marker Score: 2819
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.41
    Marker Score: 3502
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 2.37
    Marker Score: 921
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.37
    Marker Score: 4811.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.35
    Marker Score: 8333
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 2.33
    Marker Score: 1045
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.33
    Marker Score: 1357
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 2.32
    Marker Score: 2407
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 2.31
    Marker Score: 1416
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 2.3
    Marker Score: 631
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 2.28
    Marker Score: 7843
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.27
    Marker Score: 1790
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.26
    Marker Score: 653
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.23
    Marker Score: 39649
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 2.23
    Marker Score: 539
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 2.23
    Marker Score: 19568
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.22
    Marker Score: 4440
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.21
    Marker Score: 13089.5
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 2.2
    Marker Score: 829.5
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 2.2
    Marker Score: 917
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.2
    Marker Score: 5991
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.19
    Marker Score: 1522
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2.19
    Marker Score: 4973
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.17
    Marker Score: 3195
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 2.16
    Marker Score: 1232
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.15
    Marker Score: 5114
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.15
    Marker Score: 74498.5
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 2.15
    Marker Score: 1850
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.13
    Marker Score: 2035
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.12
    Marker Score: 1637
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.12
    Marker Score: 2029
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 2.11
    Marker Score: 3455
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.1
    Marker Score: 21178
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.09
    Marker Score: 4030
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 2.08
    Marker Score: 1860
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 2.07
    Marker Score: 984
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 2.07
    Marker Score: 5257
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.04
    Marker Score: 488
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.03
    Marker Score: 503
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.01
    Marker Score: 992
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 2.01
    Marker Score: 4853
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.98
    Marker Score: 1765.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.98
    Marker Score: 72914
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.98
    Marker Score: 1969
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.97
    Marker Score: 3748
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.97
    Marker Score: 12538
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.96
    Marker Score: 8129
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 1.96
    Marker Score: 812
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.93
    Marker Score: 2099
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.92
    Marker Score: 101598
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.92
    Marker Score: 429
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.92
    Marker Score: 478
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.92
    Marker Score: 1279
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.9
    Marker Score: 478
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.9
    Marker Score: 644
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.89
    Marker Score: 1711
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.89
    Marker Score: 2219

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Other Information

**Key characteristics:** - The ATP1A1 gene is a single copy gene. - It encodes for a protein that is approximately 120 kDa in molecular weight. - The protein is expressed in a variety of cell types, including the kidney, heart, thyroid, lung, and muscle. **Pathways and functions:** - The ATP1A1 gene is involved in a variety of cellular processes, including cardiac conduction, disease, infection, and muscle contraction. - It is expressed in the thick ascending limb epithelial cell of the kidney, where it is involved in maintaining blood pressure. - It is also expressed in the distal convoluted tubule epithelial cell, where it is involved in reabsorption. - It is expressed in the type II pneumocyte, where it is involved in gas exchange. - It is expressed in the collecting duct principal cell, where it is involved in maintaining blood pressure. - It is expressed in the basal cell of the epithelium of the trachea, where it is involved in maintaining airway patency. - It is expressed in the kidney loop of Henle thin descending limb epithelial cell, where it is involved in water and electrolyte balance. - It is expressed in the colon epithelial cell, where it is involved in maintaining colonic water and electrolyte balance. - It is expressed in the type I pneumocyte, where it is involved in gas exchange. - It is expressed in the skeletal muscle satellite stem cell, where it is involved in maintaining muscle tone. **Clinical significance:** - Mutations in the ATP1A1 gene have been linked to a number of human diseases, including sarcoidosis, hyperkalemia, and congestive heart failure. - The ATP1A1 gene is a potential target for the treatment of these diseases.

Genular Protein ID: 158733006

Symbol: AT1A1_HUMAN

Name: Sodium/potassium-transporting ATPase subunit alpha-1

UniProtKB Accession Codes:

P05023 B2RBR6 B7Z2T5 B7Z3U6 F5H3A1 Q16689 Q6LDM4 Q9UCN1 Q9UJ20 Q9UJ21

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 CarbonylDB 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 30 DrugCentral 1 EC 2 EMBL 20 EMDB 3 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 50 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 3 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 3 RefSeq 5 Rhea 1 SAM 1 SFLD 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2430951

Title: Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence.

PubMed ID: 2430951

DOI: 10.1093/oxfordjournals.jbchem.a121726

PubMed ID: 7536695

Title: Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium.

PubMed ID: 7536695

DOI: 10.1016/0378-1119(94)00812-7

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1970326

Title: The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism.

PubMed ID: 1970326

DOI: 10.1016/0888-7543(90)90475-a

PubMed ID: 3035563

Title: Multiple genes encode the human Na+,K+-ATPase catalytic subunit.

PubMed ID: 3035563

DOI: 10.1073/pnas.84.12.4039

PubMed ID: 2891135

Title: Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization.

PubMed ID: 2891135

DOI: 10.1073/pnas.84.22.7901

PubMed ID: 1380674

Title: Predominant naturally processed peptides bound to HLA-DR1 are derived from MHC-related molecules and are heterogeneous in size.

PubMed ID: 1380674

DOI: 10.1038/358764a0

PubMed ID: 3036582

Title: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.

PubMed ID: 3036582

DOI: 10.1016/0014-5793(87)80677-4

PubMed ID: 7711835

Title: Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle.

PubMed ID: 7711835

DOI: 10.3109/09687689409160435

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 18621045

Title: Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

PubMed ID: 18621045

DOI: 10.1016/j.yexcr.2008.06.016

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21454534

Title: FXYD proteins reverse inhibition of the Na+-K+ pump mediated by glutathionylation of its beta1 subunit.

PubMed ID: 21454534

DOI: 10.1074/jbc.m110.184101

PubMed ID: 22084111

Title: POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters.

PubMed ID: 22084111

DOI: 10.1073/pnas.1117231108

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29499166

Title: Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

PubMed ID: 29499166

DOI: 10.1016/j.ajhg.2018.01.023

PubMed ID: 30388404

Title: Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability.

PubMed ID: 30388404

DOI: 10.1016/j.ajhg.2018.10.004

Sequence Information:

  • Length: 1023
  • Mass: 112896
  • Checksum: F3C6FDE04FB3F667
  • Sequence:
    • MGKGVGRDKY EPAAVSEQGD KKGKKGKKDR DMDELKKEVS MDDHKLSLDE LHRKYGTDLS 
RGLTSARAAE ILARDGPNAL TPPPTTPEWI KFCRQLFGGF SMLLWIGAIL CFLAYSIQAA 
TEEEPQNDNL YLGVVLSAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIRNGEKMSI 
NAEEVVVGDL VEVKGGDRIP ADLRIISANG CKVDNSSLTG ESEPQTRSPD FTNENPLETR 
NIAFFSTNCV EGTARGIVVY TGDRTVMGRI ATLASGLEGG QTPIAAEIEH FIHIITGVAV 
FLGVSFFILS LILEYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN 
LEAVETLGST STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTENQSGVS FDKTSATWLA 
LSRIAGLCNR AVFQANQENL PILKRAVAGD ASESALLKCI ELCCGSVKEM RERYAKIVEI 
PFNSTNKYQL SIHKNPNTSE PQHLLVMKGA PERILDRCSS ILLHGKEQPL DEELKDAFQN 
AYLELGGLGE RVLGFCHLFL PDEQFPEGFQ FDTDDVNFPI DNLCFVGLIS MIDPPRAAVP 
DAVGKCRSAG IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA 
KACVVHGSDL KDMTSEQLDD ILKYHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN 
DSPALKKADI GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL 
TSNIPEITPF LIFIIANIPL PLGTVTILCI DLGTDMVPAI SLAYEQAESD IMKRQPRNPK 
TDKLVNERLI SMAYGQIGMI QALGGFFTYF VILAENGFLP IHLLGLRVDW DDRWINDVED 
SYGQQWTYEQ RKIVEFTCHT AFFVSIVVVQ WADLVICKTR RNSVFQQGMK NKILIFGLFE 
ETALAAFLSY CPGMGVALRM YPLKPTWWFC AFPYSLLIFV YDEVRKLIIR RRPGGWVEKE 
TYY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.