Details for: PKLR

Gene ID: 5313

Symbol: PKLR

Ensembl ID: ENSG00000143627

Description: pyruvate kinase L/R

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: kidney epithelial cell (CL0002518)
    Fold Change: 16.6427
    Cell Significance Index: 490.2000
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 15.4697
    Cell Significance Index: 7.0500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 6.8600
    Cell Significance Index: -1.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1697
    Cell Significance Index: 222.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.0564
    Cell Significance Index: -1.3000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.9785
    Cell Significance Index: 19.9100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.8921
    Cell Significance Index: 21.6100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7895
    Cell Significance Index: 7.2700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6015
    Cell Significance Index: 36.1100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5622
    Cell Significance Index: 55.6100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5232
    Cell Significance Index: 472.3900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4641
    Cell Significance Index: 50.4900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3864
    Cell Significance Index: 76.6800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3677
    Cell Significance Index: 26.0100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.3645
    Cell Significance Index: 6.1300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3118
    Cell Significance Index: 50.7100
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.3039
    Cell Significance Index: 3.4400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2679
    Cell Significance Index: 18.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2539
    Cell Significance Index: 7.3200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2484
    Cell Significance Index: 5.2900
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.1396
    Cell Significance Index: 1.9300
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.1356
    Cell Significance Index: 0.1800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1105
    Cell Significance Index: 19.9200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0965
    Cell Significance Index: 1.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0927
    Cell Significance Index: 4.2000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0891
    Cell Significance Index: 1.9300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0879
    Cell Significance Index: 1.2600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0826
    Cell Significance Index: 2.0600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0671
    Cell Significance Index: 1.4700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0482
    Cell Significance Index: 0.7000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0391
    Cell Significance Index: 0.6200
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.0316
    Cell Significance Index: 0.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0312
    Cell Significance Index: 0.8000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0307
    Cell Significance Index: 0.2400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0267
    Cell Significance Index: 0.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0254
    Cell Significance Index: 5.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0184
    Cell Significance Index: 0.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0181
    Cell Significance Index: 7.9900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0159
    Cell Significance Index: 0.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0153
    Cell Significance Index: 5.4800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0106
    Cell Significance Index: 0.1100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0094
    Cell Significance Index: 0.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0077
    Cell Significance Index: 0.2700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0049
    Cell Significance Index: 0.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0028
    Cell Significance Index: 0.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0024
    Cell Significance Index: 0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0010
    Cell Significance Index: 1.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0007
    Cell Significance Index: 1.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0005
    Cell Significance Index: 0.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0002
    Cell Significance Index: -0.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0007
    Cell Significance Index: -0.9300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0008
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0008
    Cell Significance Index: -0.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0012
    Cell Significance Index: -0.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0014
    Cell Significance Index: -0.8000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0014
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0016
    Cell Significance Index: -0.3400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0016
    Cell Significance Index: -1.0200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0022
    Cell Significance Index: -0.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0023
    Cell Significance Index: -1.7700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0027
    Cell Significance Index: -1.9800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0028
    Cell Significance Index: -1.7700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0028
    Cell Significance Index: -0.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0029
    Cell Significance Index: -1.3200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0037
    Cell Significance Index: -0.2900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0056
    Cell Significance Index: -1.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0059
    Cell Significance Index: -1.0100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0063
    Cell Significance Index: -0.2600
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.0065
    Cell Significance Index: -0.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0074
    Cell Significance Index: -0.8500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0087
    Cell Significance Index: -1.2000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0094
    Cell Significance Index: -1.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0094
    Cell Significance Index: -0.9600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0120
    Cell Significance Index: -0.2400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0121
    Cell Significance Index: -0.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0152
    Cell Significance Index: -1.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0159
    Cell Significance Index: -0.8900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0178
    Cell Significance Index: -0.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0182
    Cell Significance Index: -1.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0183
    Cell Significance Index: -0.8100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0199
    Cell Significance Index: -0.6500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0203
    Cell Significance Index: -0.7100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0223
    Cell Significance Index: -0.7100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0233
    Cell Significance Index: -0.4600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0240
    Cell Significance Index: -0.9100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0257
    Cell Significance Index: -0.6400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0272
    Cell Significance Index: -0.4100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0273
    Cell Significance Index: -0.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0294
    Cell Significance Index: -0.8000
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0295
    Cell Significance Index: -0.3700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0316
    Cell Significance Index: -1.0000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0325
    Cell Significance Index: -0.6800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0338
    Cell Significance Index: -0.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0348
    Cell Significance Index: -1.6400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0351
    Cell Significance Index: -0.5000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0355
    Cell Significance Index: -2.2900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0358
    Cell Significance Index: -0.5900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0386
    Cell Significance Index: -2.0100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0389
    Cell Significance Index: -0.9900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0395
    Cell Significance Index: -0.5100

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. **Glycolytic Enzyme:** PKLR is a glycolytic enzyme that catalyzes the conversion of phosphoenolpyruvate (PEP) to pyruvate, generating ATP and NADH in the process. 2. **Regulatory Role:** PKLR is a regulatory enzyme that modulates glycolytic flux in response to various cellular signals, such as glucose availability, energy status, and hormonal stimuli. 3. **Tissue-Specific Expression:** PKLR is expressed in multiple cell types, including plasma cells, proerythroblasts, and kidney epithelial cells, indicating its importance in various physiological processes. 4. **Involvement in Metabolic Pathways:** PKLR is involved in multiple metabolic pathways, including glycolysis, glucose metabolism, and energy production, highlighting its central role in maintaining metabolic homeostasis. **Pathways and Functions:** 1. **Glycolysis:** PKLR is a key enzyme in the glycolytic pathway, which is responsible for the breakdown of glucose to produce energy for cellular metabolism. 2. **Glucose Metabolism:** PKLR plays a critical role in regulating glucose metabolism by modulating glycolytic flux in response to glucose availability and energy status. 3. **Energy Production:** PKLR is involved in energy production by generating ATP and NADH during the conversion of phosphoenolpyruvate to pyruvate. 4. **Response to Stimuli:** PKLR is responsive to various cellular stimuli, including epinephrine, insulin, and hypoxia, highlighting its role in regulating metabolic processes in response to changing conditions. 5. **Regulation of Beta-Cell Development:** PKLR is involved in regulating beta-cell development and function, highlighting its importance in maintaining glucose homeostasis. **Clinical Significance:** 1. **Diabetes:** PKLR mutations have been associated with diabetes, highlighting its importance in glucose metabolism and insulin signaling. 2. **Cancer:** PKLR overexpression has been observed in various cancers, suggesting its potential role in tumorigenesis and metastasis. 3. **Infectious Diseases:** PKLR has been implicated in the regulation of viral infections, including SARS-CoV-1, highlighting its role in modulating immune responses. 4. **Metabolic Disorders:** PKLR dysregulation has been linked to various metabolic disorders, including obesity and metabolic syndrome, emphasizing its importance in maintaining metabolic homeostasis. In conclusion, the pyruvate kinase L/R gene plays a critical role in regulating glycolysis, glucose metabolism, and energy production, highlighting its importance in maintaining metabolic homeostasis. Its involvement in various cellular processes, including response to stimuli and regulation of beta-cell development, underscores its significance in maintaining overall cellular function. Further research is needed to fully elucidate the functions and clinical significance of PKLR, but its importance in regulating metabolic processes is clear.

Genular Protein ID: 2471937709

Symbol: KPYR_HUMAN

Name: Pyruvate kinase PKLR

UniProtKB Accession Codes:

P30613 O75758 P11973

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 1 CTD 1 ChEBI 21 ChEMBL 1 ComplexPortal 2 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EC 1 EMBL 6 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 50 PDBsum 50 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 5 RefSeq 2 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1896471

Title: cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384-->Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.

PubMed ID: 1896471

DOI: 10.1073/pnas.88.18.8218

PubMed ID: 3126495

Title: Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.

PubMed ID: 3126495

DOI: 10.1073/pnas.85.6.1792

PubMed ID: 1445295

Title: Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells.

PubMed ID: 1445295

DOI: 10.1016/0006-291x(92)91086-6

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: 3566732

Title: Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment.

PubMed ID: 3566732

DOI: 10.1016/0006-291x(87)91372-6

PubMed ID: 8476433

Title: Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.

PubMed ID: 8476433

DOI: 10.1006/bbrc.1993.1379

PubMed ID: 8664896

Title: Mutations in pyruvate kinase.

PubMed ID: 8664896

DOI: 10.1002/(sici)1098-1004(1996)7:1<1::aid-humu1>3.0.co;2-h

PubMed ID: 8807089

Title: Hematologically important mutations: red cell pyruvate kinase.

PubMed ID: 8807089

DOI: 10.1006/bcmd.1996.0012

PubMed ID: 9075576

Title: Hematologically important mutations: red cell pyruvate kinase (1st update).

PubMed ID: 9075576

DOI: 10.1006/bcmd.1996.0107

PubMed ID: 10087985

Title: Hematologically important mutations: red cell pyruvate kinase (2nd update).

PubMed ID: 10087985

DOI: 10.1006/bcmd.1998.0193

PubMed ID: 10772876

Title: Hematologically important mutations: red cell pyruvate kinase (third update).

PubMed ID: 10772876

DOI: 10.1006/bcmd.2000.0276

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: 11960989

Title: Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.

PubMed ID: 11960989

DOI: 10.1074/jbc.m202107200

PubMed ID: 2018831

Title: Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

PubMed ID: 2018831

PubMed ID: 1536957

Title: Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

PubMed ID: 1536957

PubMed ID: 8481523

Title: Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia.

PubMed ID: 8481523

PubMed ID: 8483951

Title: Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

PubMed ID: 8483951

DOI: 10.1073/pnas.90.9.4324

PubMed ID: 8161798

Title: Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

PubMed ID: 8161798

PubMed ID: 8180378

Title: Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.

PubMed ID: 8180378

PubMed ID: 7706479

Title: Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

PubMed ID: 7706479

DOI: 10.1172/jci117846

PubMed ID: 9090535

Title: G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.

PubMed ID: 9090535

DOI: 10.1002/(sici)1098-1004(1997)9:3<282::aid-humu13>3.0.co;2-z

PubMed ID: 9827908

Title: Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients.

PubMed ID: 9827908

DOI: 10.1046/j.1365-2141.1998.01013.x

PubMed ID: 9886305

Title: A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha-2 globin gene variant (Hb Conakry).

PubMed ID: 9886305

DOI: 10.1046/j.1365-2141.1998.01094.x

PubMed ID: 9482576

Title: Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.

PubMed ID: 9482576

DOI: 10.1002/(sici)1098-1004(1998)11:2<127::aid-humu5>3.0.co;2-g

PubMed ID: 11328279

Title: Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

PubMed ID: 11328279

DOI: 10.1046/j.1365-2141.2001.02711.x

PubMed ID: 19085939

Title: Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

PubMed ID: 19085939

DOI: 10.1002/humu.20915

PubMed ID: 21794208

Title: Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

PubMed ID: 21794208

Sequence Information:

  • Length: 574
  • Mass: 61830
  • Checksum: 3B430896832032F5
  • Sequence:
    • MSIQENISSL QLRSWVSKSQ RDLAKSILIG APGGPAGYLR RASVAQLTQE LGTAFFQQQQ 
LPAAMADTFL EHLCLLDIDS EPVAARSTSI IATIGPASRS VERLKEMIKA GMNIARLNFS 
HGSHEYHAES IANVREAVES FAGSPLSYRP VAIALDTKGP EIRTGILQGG PESEVELVKG 
SQVLVTVDPA FRTRGNANTV WVDYPNIVRV VPVGGRIYID DGLISLVVQK IGPEGLVTQV 
ENGGVLGSRK GVNLPGAQVD LPGLSEQDVR DLRFGVEHGV DIVFASFVRK ASDVAAVRAA 
LGPEGHGIKI ISKIENHEGV KRFDEILEVS DGIMVARGDL GIEIPAEKVF LAQKMMIGRC 
NLAGKPVVCA TQMLESMITK PRPTRAETSD VANAVLDGAD CIMLSGETAK GNFPVEAVKM 
QHAIAREAEA AVYHRQLFEE LRRAAPLSRD PTEVTAIGAV EAAFKCCAAA IIVLTTTGRS 
AQLLSRYRPR AAVIAVTRSA QAARQVHLCR GVFPLLYREP PEAIWADDVD RRVQFGIESG 
KLRGFLRVGD LVIVVTGWRP GSGYTNIMRV LSIS

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.