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This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
PHGDH (Phosphoglycerate Dehydrogenase) is a Protein Coding gene. Diseases associated with PHGDH include Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1. Among its related pathways are One carbon pool by folate and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include electron transfer activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is CTBP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004617 | phosphoglycerate dehydrogenase activity | IEA,IBA | 21873635 |
GO:0009055 | electron transfer activity | TAS | 8758134 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IEA | -- |
GO:0030060 | L-malate dehydrogenase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Carbon metabolism | ||
2 | Metabolism |
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3 | Amino acid synthesis and interconversion (transamination) | ||
4 | Glucose / Energy Metabolism | ||
5 | Sulfur amino acid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006520 | cellular amino acid metabolic process | IBA | 21873635 |
GO:0006541 | glutamine metabolic process | IEA | -- |
GO:0006544 | glycine metabolic process | IEA | -- |
GO:0006563 | L-serine metabolic process | IEA | -- |
GO:0006564 | L-serine biosynthetic process | IEA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
D-tartaric acid | Experimental | Pharma | Target | 0 | ||
3-Phosphoglyceric acid | Experimental | Pharma | 0 | |||
NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 | ||
Oxogluric acid | Experimental, Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-hydroxyglutarate |
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D-2-Hydroxyglutaric acid |
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13095-47-1 |
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Hydrogen Ion |
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Phosphohydroxypyruvic acid |
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3913-50-6 |
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Compound | Action | Cas Number |
---|---|---|
CBR-5884 | selective inhibitor of PHGDH |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||
SP2: | - | - | |||||||||||||
SP3: | |||||||||||||||
SP4: | |||||||||||||||
SP5: | |||||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: | - | ||||||||||||||
SP11: | - | - | - | - | - | ||||||||||
SP12: | |||||||||||||||
SP13: | - | ||||||||||||||
SP14: | |||||||||||||||
SP15: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHGDH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
LOC607890 30 |
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-- 31 |
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OneToMany | |||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Phgdh 30 |
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Cow (Bos Taurus) |
Mammalia | PHGDH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Phgdh 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PHGDH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHGDH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PHGDH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PHGDH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phgdh 30 |
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Str.20062 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | phgdh 30 31 |
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OneToOne | |
wufb38f06 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008849 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG6287 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | CELE_C31C9.2 30 |
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C31C9.2 31 32 |
|
OneToOne | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SER33 31 33 |
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ManyToMany | |
SER3 31 |
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ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | EDA9 30 |
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Rice (Oryza sativa) |
Liliopsida | Os04g0650800 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6094 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4899 30 |
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SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
644494 | Uncertain Significance: Phosphoglycerate dehydrogenase deficiency | 119,712,090(+) | T/G | MISSENSE_VARIANT | |
646848 | Uncertain Significance: Phosphoglycerate dehydrogenase deficiency | 119,735,439(+) | C/T | MISSENSE_VARIANT | |
647932 | Uncertain Significance: Phosphoglycerate dehydrogenase deficiency | 119,741,784(+) | G/T | MISSENSE_VARIANT | |
656320 | Uncertain Significance: Phosphoglycerate dehydrogenase deficiency | 119,740,386(+) | G/A | MISSENSE_VARIANT | |
657985 | Uncertain Significance: Phosphoglycerate dehydrogenase deficiency | 119,735,358(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
phosphoglycerate dehydrogenase deficiency |
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neu-laxova syndrome 1 |
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visual epilepsy |
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serine deficiency |
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phosphoserine phosphatase deficiency |
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