Official symbol | PGM1 |
Gene id | 5236 |
Organism | Homo sapiens |
Official full symbol | phosphoglucomutase 1 |
Gene type | protein-coding |
Also known as | CDG1T, GSD14 |
Summary | The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PGM1-201 | ENST00000371083.4 | 2657 | 580aa | Protein coding | CCDS53323 | P36871-2 | - | TSL:2, GENCODE basic, |
PGM1-205 | ENST00000540265.5 | 2345 | 365aa | Protein coding | CCDS53324 | P36871-3 | - | TSL:2, GENCODE basic, |
PGM1-202 | ENST00000371084.8 | 2337 | 562aa | Protein coding | CCDS625 | P36871-1 | NM_002633.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PGM1-206 | ENST00000650546.1 | 2423 | 584aa | Protein coding | - | A0A3B3ITK7 | - | GENCODE basic, |
PGM1-204 | ENST00000483707.1 | 612 | No protein | Processed transcript | - | - | - | TSL:2, |
PGM1-203 | ENST00000473117.2 | 373 | No protein | Processed transcript | - | - | - | TSL:5, |
Target Gene | PGM1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PGM1 had been KO in hek293t cell line. |
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