Description
pyruvate kinase, liver and RBC [Source:HGNC Symbol;Acc:9020]
Gene Synonyms
PK1, PKL, PKR, PKRL, RPK
Location
Chromosome 1: 155,259,630-155,271,225 reverse strand.
GRCh37:CM000663.1
View alleles of this gene on alternative sequences
About this gene
This gene has 3 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 3 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000392414.3 | PKLR-002 | 2479 | 543aa | ENSP00000376214.3 | Protein coding | CCDS44240 | B4DPM0 P30613 Q16716 | NM_181871.3 | GENCODE basic, |
ENST00000342741.4 | PKLR-001 | 2083 | 574aa | ENSP00000339933.4 | Protein coding | CCDS1109 | B4DPM0 P30613 Q16715 | NM_000298.5 | GENCODE basic, |
ENST00000434082.2 | PKLR-004 | 580 | 46aa | ENSP00000398037.2 | Nonsense mediated decay | F8W6W2 | - | - |