PKLR
Sign in to saveAlso known as PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R
protein-coding gene in the species Homo sapiens
Gene data
PKLR- Name
- pyruvate kinase L/R
- Type
- protein-coding
- Position
- 155,289,265–155,301,443 (−)
- Aliases
- CNSHA2, PK1, PKL, PKRL, RPK
- Ensembl
- ENSG00000262785
- RefSeq RNA
- NM_000298.6, NM_181871.4, XM_006711386.5, XM_011509640.4, XM_017001493.1
- RefSeq protein
- NP_000289.1, NP_870986.1, XP_006711449.1, XP_011507942.1, XP_016856982.1
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
Glycolysis / Gluconeogenesis - Homo sapiens (human)Purine metabolism - Homo sapiens (human)Pyruvate metabolism - Homo sapiens (human)Insulin signaling pathway - Homo sapiens (human)Type II diabetes mellitus - Homo sapiens (human)Non-alcoholic fatty liver disease - Homo sapiens (human)Maturity onset diabetes of the young - Homo sapiens (human)Developmental BiologyAerobic respiration and respiratory electron transportMetabolism
via MyGene.info
Gene · Ensembl
pyruvate kinase L/R
- Symbol
- PKLR
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:155,289,265-155,301,443
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein PKLR PDB 1liu.png
Show 8 more facts
- HomoloGene ID
- 37286
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5313
- chromosome
- human chromosome 1
- cytogenetic location
- 1q22
- genomic start
- 155289293
- genomic end
- 155301438
- genetic association
- pyruvate kinase deficiency
Sources (6)
via Wikidata · CC0