ATP1A1 | ENSG00000163399 | NCBI 476

Details for: ATP1A1

Gene ID: 476

Symbol: ATP1A1

Ensembl ID: ENSG00000163399

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

Associated with

Cardiac conduction
(R-HSA-5576891)
Disease
(R-HSA-1643685)
Infectious disease
(R-HSA-5663205)
Ion channel transport
(R-HSA-983712)
Ion homeostasis
(R-HSA-5578775)
Ion transport by p-type atpases
(R-HSA-936837)
Muscle contraction
(R-HSA-397014)
Potential therapeutics for sars
(R-HSA-9679191)
Sars-cov infections
(R-HSA-9679506)
Transport of small molecules
(R-HSA-382551)
Viral infection pathways
(R-HSA-9824446)
Apical plasma membrane
(GO:0016324)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Axon
(GO:0030424)
Basolateral plasma membrane
(GO:0016323)
Cardiac muscle cell action potential involved in contraction
(GO:0086002)
Cell communication by electrical coupling involved in cardiac conduction
(GO:0086064)
Cellular response to steroid hormone stimulus
(GO:0071383)
Endoplasmic reticulum
(GO:0005783)
Establishment or maintenance of transmembrane electrochemical gradient
(GO:0010248)
Extracellular exosome
(GO:0070062)
Extracellular vesicle
(GO:1903561)
Golgi apparatus
(GO:0005794)
Intracellular potassium ion homeostasis
(GO:0030007)
Intracellular sodium ion homeostasis
(GO:0006883)
Lateral plasma membrane
(GO:0016328)
Melanosome
(GO:0042470)
Membrane
(GO:0016020)
Membrane raft
(GO:0045121)
Membrane repolarization
(GO:0086009)
Membrane repolarization during cardiac muscle cell action potential
(GO:0086013)
Negative regulation of glucocorticoid biosynthetic process
(GO:0031947)
Negative regulation of heart contraction
(GO:0045822)
Organelle membrane
(GO:0031090)
P-type sodium:potassium-exchanging transporter activity
(GO:0005391)
Phosphatase activity
(GO:0016791)
Photoreceptor inner segment membrane
(GO:0060342)
Plasma membrane
(GO:0005886)
Positive regulation of heart contraction
(GO:0045823)
Positive regulation of striated muscle contraction
(GO:0045989)
Postsynaptic density
(GO:0014069)
Potassium ion binding
(GO:0030955)
Potassium ion import across plasma membrane
(GO:1990573)
Protein-containing complex
(GO:0032991)
Protein-folding chaperone binding
(GO:0051087)
Protein binding
(GO:0005515)
Protein heterodimerization activity
(GO:0046982)
Proton transmembrane transport
(GO:1902600)
Regulation of blood pressure
(GO:0008217)
Regulation of sodium ion transport
(GO:0002028)
Regulation of the force of heart contraction
(GO:0002026)
Relaxation of cardiac muscle
(GO:0055119)
Response to glycoside
(GO:1903416)
Response to xenobiotic stimulus
(GO:0009410)
Sarcolemma
(GO:0042383)
Sodium:potassium-exchanging atpase complex
(GO:0005890)
Sodium ion binding
(GO:0031402)
Sodium ion export across plasma membrane
(GO:0036376)
Sperm flagellum
(GO:0036126)
Steroid hormone binding
(GO:1990239)
T-tubule
(GO:0030315)

Other Information

Proteins

Sodium/potassium-transporting ATPase subunit alpha-1

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:

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

The gene details are incomplete or unavailable at the moment.

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ATP1A1

Associated with

Other Information

Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence. PubMed ID: 2430951

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

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

Multiple genes encode the human Na+,K+-ATPase catalytic subunit. PubMed ID: 3035563

Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization. PubMed ID: 2891135

Predominant naturally processed peptides bound to HLA-DR1 are derived from MHC-related molecules and are heterogeneous in size. PubMed ID: 1380674

The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. PubMed ID: 3036582

Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle. PubMed ID: 7711835

An unappreciated role for RNA surveillance. PubMed ID: 14759258

Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. PubMed ID: 17081065

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. PubMed ID: 18621045

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. PubMed ID: 19690332

Initial characterization of the human central proteome. PubMed ID: 21269460

FXYD proteins reverse inhibition of the Na+-K+ pump mediated by glutathionylation of its beta1 subunit. PubMed ID: 21454534

POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. PubMed ID: 22084111

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. PubMed ID: 29499166

Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability. PubMed ID: 30388404