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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 565.1732
    Cell Significance Index: -87.9100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 372.9843
    Cell Significance Index: -94.6100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 239.2052
    Cell Significance Index: -98.5400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 215.2332
    Cell Significance Index: -87.4400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 213.6521
    Cell Significance Index: -100.8700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 186.9805
    Cell Significance Index: -96.1800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 150.1441
    Cell Significance Index: -100.7500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 92.1295
    Cell Significance Index: -87.9600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 79.1837
    Cell Significance Index: -97.6300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 32.4037
    Cell Significance Index: -86.8100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 25.3317
    Cell Significance Index: -99.9600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 24.5551
    Cell Significance Index: -75.4200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.7897
    Cell Significance Index: -30.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 6.2597
    Cell Significance Index: 328.6600
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 5.1936
    Cell Significance Index: 37.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.9625
    Cell Significance Index: 135.0800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 4.3256
    Cell Significance Index: 201.6800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 4.2447
    Cell Significance Index: 75.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 3.5030
    Cell Significance Index: 158.7800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 3.4075
    Cell Significance Index: 436.8200
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 2.9664
    Cell Significance Index: 2.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 2.9075
    Cell Significance Index: 2131.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.8910
    Cell Significance Index: 83.3000
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 2.8787
    Cell Significance Index: 6.4900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.8021
    Cell Significance Index: 131.7000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.5599
    Cell Significance Index: 73.3800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.4298
    Cell Significance Index: 298.7600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.3885
    Cell Significance Index: 143.3900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.3292
    Cell Significance Index: 173.5900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.3033
    Cell Significance Index: 297.5700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.1990
    Cell Significance Index: 47.6400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0928
    Cell Significance Index: 419.8200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 2.0726
    Cell Significance Index: 107.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.0574
    Cell Significance Index: 54.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.0278
    Cell Significance Index: 365.5400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.0149
    Cell Significance Index: 56.3100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.8820
    Cell Significance Index: 21.3800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.6033
    Cell Significance Index: 24.3500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.5866
    Cell Significance Index: 10.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.5845
    Cell Significance Index: 865.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.4668
    Cell Significance Index: 291.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.4092
    Cell Significance Index: 623.0500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1917
    Cell Significance Index: 427.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.1866
    Cell Significance Index: 82.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0928
    Cell Significance Index: 118.8700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.0857
    Cell Significance Index: 750.9000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.9772
    Cell Significance Index: 65.7100
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 0.9378
    Cell Significance Index: 5.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8635
    Cell Significance Index: 66.2700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7507
    Cell Significance Index: 20.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6659
    Cell Significance Index: 126.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5593
    Cell Significance Index: 55.3300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5400
    Cell Significance Index: 12.4800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5020
    Cell Significance Index: 453.2300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4729
    Cell Significance Index: 76.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4655
    Cell Significance Index: 63.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3907
    Cell Significance Index: 20.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3563
    Cell Significance Index: 60.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.3390
    Cell Significance Index: 256.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3035
    Cell Significance Index: 10.6700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1384
    Cell Significance Index: 255.3000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0687
    Cell Significance Index: 4.8600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0581
    Cell Significance Index: 109.4100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0566
    Cell Significance Index: 0.9700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0535
    Cell Significance Index: 33.9700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0175
    Cell Significance Index: 27.0100
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 0.0129
    Cell Significance Index: 0.2700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0151
    Cell Significance Index: -0.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0356
    Cell Significance Index: -16.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0446
    Cell Significance Index: -33.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0628
    Cell Significance Index: -85.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0653
    Cell Significance Index: -40.8000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0654
    Cell Significance Index: -1.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0852
    Cell Significance Index: -8.7000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1255
    Cell Significance Index: -1.8800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1263
    Cell Significance Index: -10.0100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1285
    Cell Significance Index: -72.4500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1870
    Cell Significance Index: -21.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2234
    Cell Significance Index: -47.0500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2495
    Cell Significance Index: -29.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2953
    Cell Significance Index: -42.9200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3080
    Cell Significance Index: -88.6200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3325
    Cell Significance Index: -37.9500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3409
    Cell Significance Index: -10.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3547
    Cell Significance Index: -4.8400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3948
    Cell Significance Index: -9.8700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4217
    Cell Significance Index: -15.9700
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.4979
    Cell Significance Index: -4.4200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5631
    Cell Significance Index: -65.6200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5650
    Cell Significance Index: -19.6400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5753
    Cell Significance Index: -35.3600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6068
    Cell Significance Index: -39.1500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.7521
    Cell Significance Index: -6.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7820
    Cell Significance Index: -49.2900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.7902
    Cell Significance Index: -22.5500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.8335
    Cell Significance Index: -7.6800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.8877
    Cell Significance Index: -92.4300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.9141
    Cell Significance Index: -9.4600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.9577
    Cell Significance Index: -53.7400
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -1.1856
    Cell Significance Index: -11.9600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Subunit structure**: The ATP1A1 gene encodes for the α1 subunit of the Na+/K+ ATPase pump, which is a heterodimeric enzyme composed of two subunits: α (α1) and β (β1). 2. **Function**: The ATP1A1 gene product is a transmembrane pump that utilizes ATP hydrolysis to transport sodium ions out of the cell and potassium ions into the cell, thereby maintaining the ionic balance across the cell membrane. 3. **Tissue expression**: The ATP1A1 gene is significantly expressed in various tissues, including kidney, thyroid, and skeletal muscle cells, where it plays a vital role in regulating ion homeostasis and contraction. 4. **Regulation**: The ATP1A1 gene is regulated by various factors, including steroid hormones, glucocorticoids, and other signaling molecules, which can modulate its expression and activity. **Pathways and Functions** 1. **Cardiac conduction**: The ATP1A1 gene product plays a crucial role in maintaining the ionic balance across cardiac muscle cells, which is essential for regulating cardiac conduction and contraction. 2. **Muscle contraction**: The ATP1A1 gene product is involved in regulating muscle contraction by maintaining the ionic balance across skeletal muscle cells, which is essential for muscle function and movement. 3. **Blood pressure regulation**: The ATP1A1 gene product is involved in regulating blood pressure by modulating the activity of the Na+/K+ ATPase pump in blood vessels, which can affect vascular tone and blood pressure. 4. **Ion homeostasis**: The ATP1A1 gene product plays a crucial role in maintaining ion homeostasis across various tissues, including kidney, thyroid, and skeletal muscle cells. 5. **Cell signaling**: The ATP1A1 gene product can interact with other signaling molecules, such as steroid hormones and glucocorticoids, which can modulate its expression and activity. **Clinical Significance** 1. **Cardiac arrhythmias**: Mutations in the ATP1A1 gene have been associated with cardiac arrhythmias, including long QT syndrome and Brugada syndrome. 2. **Hypertension**: The ATP1A1 gene product is involved in regulating blood pressure, and mutations in the ATP1A1 gene have been associated with hypertension. 3. **Muscle disorders**: Mutations in the ATP1A1 gene have been associated with muscle disorders, including muscular dystrophy and myalgia. 4. **Thyroid function**: The ATP1A1 gene product is involved in regulating thyroid function, and mutations in the ATP1A1 gene have been associated with thyroid dysfunction. 5. **SARS-CoV infections**: The ATP1A1 gene product has been implicated in the regulation of SARS-CoV infections, and its expression and activity may play a role in modulating the severity of the disease. In conclusion, the ATP1A1 gene plays a crucial role in regulating ion homeostasis, contraction, and cardiovascular function, and its dysregulation has been implicated in various physiological and pathological processes. Further research is needed to fully understand the mechanisms by which the ATP1A1 gene regulates cellular function and to develop therapeutic strategies for the treatment of related 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 7 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 30 DrugCentral 1 EC 2 EMBL 20 EMDB 3 Ensembl 3 ExpressionAtlas 1 GO 52 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 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 SFLD 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 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. 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.