Metazoan complexes |
|
Emili & Marcotte labs |
- Home
-
-
-
-
-
-
-
- Download
- Help
- Contact
Details of PGK1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| PGK1 | PGKA, | P00558 | PGK1_HUMAN | 5230 | ENSG00000102144 ENSG00000269666 | Phosphoglycerate kinase 1 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300653 |
Phenotypes
Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of blood and blood-forming tissues, Abnormality of central motor function, Abnormality of coordination, Abnormality of erythrocytes, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of reticulocytes, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the eye, Abnormality of the fundus, Abnormality of the genitourinary system, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormality of vision, All, Anemia, Anemia due to reduced life span of red cells, Ataxia, Behavioural/Psychiatric Abnormality, Diminished movement, Emotional lability, Exercise-induced muscle cramps, Exercise intolerance, Functional motor problems., Gonosomal inheritance, Headache, Hemolytic anemia, Hypokinesia, Migraine, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle cramps, Myoglobinuria, Myopathy, Nonspherocytic hemolytic anemia, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Renal insufficiency, Reticulocytosis, Retinal dystrophy, Rhabdomyolysis, Seizures, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Pgk1 | Pgk | pgk-1 | Sp-Pgk1 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
PGK1 | AKR1A1 | 0.173918482 | PGK1 | AKR1A1 | cpx46 | no | no | no | Novel |
PGK1 | ENO3 | 0.989977727 | PGK1 | ENO3 | cpx58 | no | yes | yes | Known |
PGK1 | ENO1 | 0.988695084 | PGK1 | ENO1 | cpx58; cpx50; cpx117 | no | yes | yes | Known |
PGK1 | ENO2 | 0.973269814 | PGK1 | ENO2 | cpx58 | no | yes | yes | Known |
PGK1 | GAPDH | 0.944552354 | PGK1 | GAPDH | cpx58; cpx117; cpx375 | no | yes | yes | Known |
TRIP6 | PGK1 | 0.208739744 | TRIP6 | PGK1 | cpx338 | no | no | no | Novel |
LDHA | PGK1 | 0.300952004 | LDHA | PGK1 | cpx50; cpx46 | no | no | no | Novel |
RPE | PGK1 | 0.051069497 | RPE | PGK1 | cpx46 | no | no | no | Novel |
HNRNPA3 | PGK1 | 0.077062338 | HNRNPA3 | PGK1 | cpx319 | no | no | no | Novel |
PKM | PGK1 | 0.129214552 | PKM | PGK1 | cpx375 | no | no | no | Novel |
TKT | PGK1 | 0.607303561 | TKT | PGK1 | cpx46 | no | no | no | Novel |
FUS | PGK1 | 0.444501842 | FUS | PGK1 | cpx338; cpx319 | no | no | no | Novel |
HNRNPD | PGK1 | 0.292919176 | HNRNPD | PGK1 | cpx319 | no | no | no | Novel |
PGK1 | TPI1 | 0.640652644 | PGK1 | TPI1 | cpx58; cpx117; cpx50 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
PGK1 | YWHAQ | 0.112405883 | PGK1 | YWHAQ |
PGK1 | YWHAE | 0.111874466 | PGK1 | YWHAE |
CRIP1 | PGK1 | 0.106375351 | CRIP1 | PGK1 |
ACAA2 | PGK1 | 0.073811312 | ACAA2 | PGK1 |
PGK1 | EEF2 | 0.195867422 | PGK1 | EEF2 |
PGK1 | SF1 | 0.079222354 | PGK1 | SF1 |
PGK1 | CSE1L | 0.084877279 | PGK1 | CSE1L |
PSMB1 | PGK1 | 0.08277624 | PSMB1 | PGK1 |
STIP1 | PGK1 | 0.097102467 | STIP1 | PGK1 |
PYGL | PGK1 | 0.120934811 | PYGL | PGK1 |
PGK1 | AKR1B1 | 0.114249099 | PGK1 | AKR1B1 |
PGK1 | EEF1A1 | 0.227743923 | PGK1 | EEF1A1 |
ADI1 | PGK1 | 0.093329625 | ADI1 | PGK1 |
PGK1 | ALDOC | 0.119935914 | PGK1 | ALDOC |
PGK1 | AKR1B10 | 0.090736831 | PGK1 | AKR1B10 |
YWHAZ | PGK1 | 0.095305466 | YWHAZ | PGK1 |
PGK1 | TAGLN2 | 0.144276439 | PGK1 | TAGLN2 |
HNRNPA2B1 | PGK1 | 0.173480071 | HNRNPA2B1 | PGK1 |
PGK1 | ARPC3 | 0.153366216 | PGK1 | ARPC3 |
FH | PGK1 | 0.217317123 | FH | PGK1 |
LDHB | PGK1 | 0.081126423 | LDHB | PGK1 |
PGK1 | ALDOA | 0.470536 | PGK1 | ALDOA |
PGK1 | TAGLN3 | 0.0730281 | PGK1 | TAGLN3 |
MSN | PGK1 | 0.319067496 | MSN | PGK1 |
PGK1 | SFPQ | 0.100625688 | PGK1 | SFPQ |
PSMA6 | PGK1 | 0.099785569 | PSMA6 | PGK1 |
PGK1 | SFN | 0.07137473 | PGK1 | SFN |
PGK1 | PSMB2 | 0.140848493 | PGK1 | PSMB2 |