Details for: ATP1A3

Gene ID: 478

Symbol: ATP1A3

Ensembl ID: ENSG00000105409

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

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: 138.4163
    Cell Significance Index: -21.5300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 85.5138
    Cell Significance Index: -21.6900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.4702
    Cell Significance Index: -21.5400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 11.6335
    Cell Significance Index: 89.6700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 7.9274
    Cell Significance Index: 499.6400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 4.3755
    Cell Significance Index: 54.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.2961
    Cell Significance Index: 225.5600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.2265
    Cell Significance Index: -9.2500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 3.5850
    Cell Significance Index: 31.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.6182
    Cell Significance Index: 57.3300
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 2.2447
    Cell Significance Index: 27.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.7470
    Cell Significance Index: 626.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7234
    Cell Significance Index: 345.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0488
    Cell Significance Index: 80.4900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.0310
    Cell Significance Index: 10.7400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.0028
    Cell Significance Index: 17.1900
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 0.9858
    Cell Significance Index: 7.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9526
    Cell Significance Index: 58.5500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5262
    Cell Significance Index: 12.6200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4714
    Cell Significance Index: 17.8500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3993
    Cell Significance Index: 17.6600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.3272
    Cell Significance Index: 4.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3190
    Cell Significance Index: 60.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2679
    Cell Significance Index: 5.8100
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.2178
    Cell Significance Index: 2.4600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1960
    Cell Significance Index: 176.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1519
    Cell Significance Index: 15.0300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1130
    Cell Significance Index: 6.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0803
    Cell Significance Index: 3.6400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0772
    Cell Significance Index: 0.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0612
    Cell Significance Index: 9.9500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.0404
    Cell Significance Index: 0.5100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.0293
    Cell Significance Index: 0.5800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0080
    Cell Significance Index: 0.1700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0061
    Cell Significance Index: 0.0500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0042
    Cell Significance Index: 0.0400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0043
    Cell Significance Index: -0.1900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0080
    Cell Significance Index: -0.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0118
    Cell Significance Index: -0.3400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0122
    Cell Significance Index: -0.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0128
    Cell Significance Index: -24.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0186
    Cell Significance Index: -1.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0248
    Cell Significance Index: -18.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0253
    Cell Significance Index: -18.7600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0271
    Cell Significance Index: -20.5400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0289
    Cell Significance Index: -0.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0321
    Cell Significance Index: -20.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0324
    Cell Significance Index: -18.2700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0383
    Cell Significance Index: -0.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0397
    Cell Significance Index: -18.0100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0446
    Cell Significance Index: -1.4600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0447
    Cell Significance Index: -4.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0457
    Cell Significance Index: -24.9700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0496
    Cell Significance Index: -1.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0560
    Cell Significance Index: -10.0900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0608
    Cell Significance Index: -0.8700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0932
    Cell Significance Index: -19.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0995
    Cell Significance Index: -16.9900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1108
    Cell Significance Index: -7.1500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1183
    Cell Significance Index: -1.3800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1216
    Cell Significance Index: -3.0400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1228
    Cell Significance Index: -17.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1291
    Cell Significance Index: -15.8700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1386
    Cell Significance Index: -1.5100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1435
    Cell Significance Index: -1.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1559
    Cell Significance Index: -20.1400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1566
    Cell Significance Index: -21.5100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1581
    Cell Significance Index: -10.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1585
    Cell Significance Index: -18.4700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1610
    Cell Significance Index: -5.1600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1612
    Cell Significance Index: -4.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1661
    Cell Significance Index: -19.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1667
    Cell Significance Index: -19.6600
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1783
    Cell Significance Index: -2.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1912
    Cell Significance Index: -19.5400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2029
    Cell Significance Index: -4.2100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2216
    Cell Significance Index: -28.4100
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.2352
    Cell Significance Index: -1.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.2459
    Cell Significance Index: -14.7600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2538
    Cell Significance Index: -8.8900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2680
    Cell Significance Index: -13.9200
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.2730
    Cell Significance Index: -3.1300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.2733
    Cell Significance Index: -5.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2751
    Cell Significance Index: -20.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2842
    Cell Significance Index: -19.1100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3020
    Cell Significance Index: -15.7300
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.3246
    Cell Significance Index: -3.2700
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.3284
    Cell Significance Index: -4.1000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.3510
    Cell Significance Index: -7.0000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3539
    Cell Significance Index: -7.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3748
    Cell Significance Index: -9.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3904
    Cell Significance Index: -10.9100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4000
    Cell Significance Index: -18.8000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4348
    Cell Significance Index: -15.9600
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.4409
    Cell Significance Index: -4.7400
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.4497
    Cell Significance Index: -5.5900
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.4879
    Cell Significance Index: -6.1100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5025
    Cell Significance Index: -23.4300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.5069
    Cell Significance Index: -6.5000
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: -0.5218
    Cell Significance Index: -4.0600

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 of the sodium-potassium pump**: The ATP1A3 gene encodes the alpha 3 subunit of the Na+/K+-ATPase, a heterotetrameric enzyme that consists of two alpha subunits and two gamma subunits. 2. **High expression in neurons**: The ATP1A3 gene is highly expressed in glycinergic and GABAergic interneurons, which are critical for regulating neuronal excitability and synaptic transmission. 3. **Critical role in neuronal function**: The Na+/K+-ATPase plays a crucial role in regulating the resting membrane potential, synaptic transmission, and overall neural function. 4. **Implicated in neurological disorders**: Mutations in the ATP1A3 gene have been implicated in various neurological disorders, including congenital myasthenic syndrome with thymic hyperplasia (CMS-T) and familial periodic paralysis (FPP). **Pathways and Functions** 1. **Regulation of neuronal excitability**: The Na+/K+-ATPase helps regulate the resting membrane potential and synaptic transmission by pumping sodium ions out of the cell and potassium ions into the cell. 2. **Maintenance of transmembrane electrochemical gradient**: The Na+/K+-ATPase maintains the electrochemical gradient across cell membranes, which is essential for regulating various cellular processes, including neuronal excitability and synaptic transmission. 3. **Intracellular potassium ion homeostasis**: The Na+/K+-ATPase helps regulate intracellular potassium ion concentrations, which is critical for maintaining proper neuronal function. 4. **Ion channel transport**: The Na+/K+-ATPase is involved in ion channel transport, which is essential for regulating various cellular processes, including neuronal excitability and synaptic transmission. **Clinical Significance** 1. **Congenital myasthenic syndrome with thymic hyperplasia (CMS-T)**: Mutations in the ATP1A3 gene have been implicated in CMS-T, a rare genetic disorder characterized by muscle weakness and impaired muscle function. 2. **Familial periodic paralysis (FPP)**: Mutations in the ATP1A3 gene have also been implicated in FPP, a rare genetic disorder characterized by muscle weakness and paralysis. 3. **Neurological disorders**: The ATP1A3 gene has also been implicated in various other neurological disorders, including epilepsy, migraines, and multiple sclerosis. 4. **Therapeutic potential**: The Na+/K+-ATPase is a potential target for therapeutic interventions in various neurological disorders, including CMS-T and FPP. In conclusion, the ATP1A3 gene plays a critical role in regulating neuronal excitability, synaptic transmission, and overall neural function. Mutations in this gene have been implicated in various neurological disorders, and the Na+/K+-ATPase is a potential target for therapeutic interventions. Further research is needed to fully understand the mechanisms by which the ATP1A3 gene regulates neuronal function and to develop effective therapeutic strategies for treating neurological disorders associated with this gene.

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 5 DrugCentral 1 EC 2 EMBL 55 EMDB 5 Ensembl 3 ExpressionAtlas 1 GO 32 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 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 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: 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 12 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 10 Gene3D 4 InterPro 12 KEGG 1 NCBI Taxonomy 1 NCBIfam 2 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 4 RefSeq 3 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.