Metazoan complexes |
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Details of PGM1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| PGM1 | --- | P36871 | PGM1_HUMAN | 5236 | ENSG00000079739 | Phosphoglucomutase-1 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Glycogen storage disease 14 (GSD14) [MIM:612934]: A metabolic disorder resulting in a myopathy characterized by exercise-induced intolerance with episodes of rhabdomyolysis, normal elevation of lactate, and hyperammonemia on a forearm- exercise test. Note=The disease is caused by mutations affecting the gene represented in this entry. | 612934 | Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614921 |
Phenotypes
Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of the genitourinary system, Abnormality of the hip-girdle musculature, Abnormality of the musculature, Abnormality of the musculature of the pelvis, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, All, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Functional motor problems., Limb-girdle muscle weakness, Mode of inheritance, Muscle cramps, Muscle weakness, Myoglobinuria, Pelvic girdle muscle weakness, Phenotypic abnormality, Rhabdomyolysis.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Pgm1 | Pgm | R05F9.6 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
PGM1 | AKR1B1 | 0.061813441 | PGM1 | AKR1B1 | cpx953 | no | no | no | Novel |
PGM1 | CAT | 0.082320747 | PGM1 | CAT | cpx60 | no | no | no | Novel |
PGM1 | ENO1 | 0.116023553 | PGM1 | ENO1 | cpx50 | no | no | no | Novel |
PGM1 | PDCD6IP | 0.030140134 | PGM1 | PDCD6IP | cpx50; cpx60 | no | no | no | Novel |
SOD1 | PGM1 | 0.693976931 | SOD1 | PGM1 | cpx60 | no | no | no | Novel |
ALDH1B1 | PGM1 | 0.636295972 | ALDH1B1 | PGM1 | cpx354; cpx60 | no | no | no | Novel |
ABAT | PGM1 | 0.382634658 | ABAT | PGM1 | cpx60 | no | no | no | Novel |
LDHA | PGM1 | 0.2731166 | LDHA | PGM1 | cpx60; cpx50 | no | no | no | Novel |
FAH | PGM1 | 0.090133869 | FAH | PGM1 | cpx889 | no | no | no | Novel |
OAT | PGM1 | 0.215361565 | OAT | PGM1 | cpx354 | no | no | yes | Known |
MDH1 | PGM1 | 0.108256697 | MDH1 | PGM1 | cpx863 | no | yes | no | Known |
ALDH2 | PGM1 | 0.2319112 | ALDH2 | PGM1 | cpx50; cpx60 | no | no | no | Novel |
PGM1 | PGM2 | 0.085555237 | PGM1 | PGM2 | cpx889 | no | yes | no | Known |
PGM1 | PRDX6 | 0.101657033 | PGM1 | PRDX6 | cpx872 | no | no | no | Novel |
PGM1 | TPI1 | 0.132962755 | PGM1 | TPI1 | cpx50 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
GPD1L | PGM1 | 0.246866306 | GPD1L | PGM1 |
PGM1 | SCCPDH | 0.075094257 | PGM1 | SCCPDH |
PGM1 | LTA4H | 0.111254853 | PGM1 | LTA4H |
PGM1 | TALDO1 | 0.124628495 | PGM1 | TALDO1 |
CCBL2 | PGM1 | 0.09018964 | CCBL2 | PGM1 |
UQCRFS1 | PGM1 | 0.133742766 | UQCRFS1 | PGM1 |
SORD | PGM1 | 0.085938114 | SORD | PGM1 |
PGM1 | GRHPR | 0.080115104 | PGM1 | GRHPR |
PGM1 | GPI | 0.089891826 | PGM1 | GPI |
PGM1 | ATIC | 0.073146882 | PGM1 | ATIC |
PGM1 | EXOC2 | 0.088300873 | PGM1 | EXOC2 |
LDHB | PGM1 | 0.112753735 | LDHB | PGM1 |
PGM1 | GALK2 | 0.127023193 | PGM1 | GALK2 |
ABHD11 | PGM1 | 0.084899883 | ABHD11 | PGM1 |
PGM1 | PGM3 | 0.175998086 | PGM1 | PGM3 |