Details for: ATP1A3

Gene ID: 478

Symbol: ATP1A3

Ensembl ID: ENSG00000105409

Description: ATPase Na+/K+ transporting subunit alpha 3

Associated with

Other Information

Genular Protein ID: 1669657936

Symbol: AT1A3_HUMAN

Name: Sodium/potassium-transporting ATPase subunit alpha-3

UniProtKB Accession Codes:

P13637 B7Z2T0 B7Z401 F5H6J6 Q16732 Q16735 Q969K5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 2 EMBL 55 EMDB 5 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 32 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 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 3 RNAct 1 Reactome 3 RefSeq 3 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: 2838329

Title: Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein.

PubMed ID: 2838329

DOI: 10.1016/0014-5793(88)81361-9

PubMed ID: 2834163

Title: Family of human Na(+),K(+)-ATPase genes. Structure of the gene of isoform alpha-III.

PubMed ID: 2834163

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 3030810

Title: The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit.

PubMed ID: 3030810

DOI: 10.1016/0014-5793(87)81467-9

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 15260953

Title: Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

PubMed ID: 15260953

DOI: 10.1016/j.neuron.2004.06.028

PubMed ID: 19351654

Title: A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.

PubMed ID: 19351654

DOI: 10.1093/hmg/ddp170

PubMed ID: 19652145

Title: Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PubMed ID: 19652145

DOI: 10.1212/wnl.0b013e3181b04acd

PubMed ID: 22850527

Title: Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

PubMed ID: 22850527

DOI: 10.1016/s1474-4422(12)70182-5

PubMed ID: 22842232

Title: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

PubMed ID: 22842232

DOI: 10.1038/ng.2358

PubMed ID: 23409136

Title: Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

PubMed ID: 23409136

DOI: 10.1371/journal.pone.0056120

PubMed ID: 24468074

Title: A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

PubMed ID: 24468074

DOI: 10.1186/1750-1172-9-15

PubMed ID: 24631656

Title: Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

PubMed ID: 24631656

DOI: 10.1016/j.bbadis.2014.03.002

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 33880529

Title: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

PubMed ID: 33880529

DOI: 10.1093/brain/awab052

Sequence Information:

  • Length: 1013
  • Mass: 111749
  • Checksum: BF28CD9F1E11AF48
  • Sequence:
    • MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE 
ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL 
YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL 
VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV 
EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS 
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST 
STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR 
AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL 
SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE 
RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG 
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL 
KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI 
GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL TSNIPEITPF 
LLFIMANIPL PLGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI 
SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ 
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALAAFLSY 
CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE TYY

Genular Protein ID: 2927729734

Symbol: Q53ES0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53ES0

Database IDs:

ARBA 15 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 7 DNASU 1 EC 1 EMBL 2 GO 5 Gene3D 4 GenomeRNAi 1 InterPro 11 KEGG 1 NCBI Taxonomy 1 NCBIfam 2 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 4 RefSeq 3 Rhea 1 RuleBase 1 SAM 1 SFLD 2 SMART 2 SUPFAM 4

Citations:

PubMed ID: 8125298

Title: Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.

PubMed ID: 8125298

DOI: 10.1016/0378-1119(94)90802-8

PubMed ID: 9373149

Title: Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.

PubMed ID: 9373149

DOI: 10.1016/S0378-1119(97)00411-3

Sequence Information:

  • Length: 1013
  • Mass: 111779
  • Checksum: BF3DD89F0B04AF48
  • Sequence:
    • MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE 
ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL 
YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL 
VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV 
EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS 
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST 
STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR 
AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL 
SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE 
RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG 
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL 
KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI 
GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL TSNIPEITPF 
LLFIMANIPL PLGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI 
SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ 
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALATFLSY 
CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE 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.