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Details of PSAT1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PSAT1 | PSA | Q9Y617 | SERC_HUMAN | 29968 | ENSG00000135069 | Phosphoserine aminotransferase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]: Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 610992 | ||||||||
Phenotypes
Abnormality of central motor function, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of pyramidal motor function, Abnormality of the central nervous system, Abnormality of the cerebellar vermis, Abnormality of the cerebellum, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the nervous system, Age of onset, All, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal recessive inheritance, Cerebellar malformation, Cerebellar vermis hypoplasia, Cognitive impairment, Global developmental delay, Hypertonia, Infantile onset, Mode of inheritance, Morphological abnormality of the central nervous system, Onset, Onset and clinical course, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Psat1 | FBgn0014427 | F26H9.5 | Sp-Psat1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PSAT1 | CCDC58 | 0.026131554 | PSAT1 | CCDC58 | cpx2 | no | no | no | Novel |
| PSAT1 | PCBP1 | 0.176259912 | PSAT1 | PCBP1 | cpx2 | no | no | no | Novel |
| PSAT1 | PRDX2 | 0.037259607 | PSAT1 | PRDX2 | cpx2 | no | no | no | Novel |
| PSAT1 | RBM12 | 0.047959972 | PSAT1 | RBM12 | cpx2 | no | no | no | Novel |
| DAZAP1 | PSAT1 | 0.147760876 | DAZAP1 | PSAT1 | cpx2; cpx204 | no | no | no | Novel |
| ARF4 | PSAT1 | 0.280703512 | ARF4 | PSAT1 | cpx204; cpx2 | no | no | no | Novel |
| FH | PSAT1 | 0.057098068 | FH | PSAT1 | cpx2 | no | yes | no | Known |
| PSAT1 | SGPL1 | 0.241030918 | PSAT1 | SGPL1 | cpx588 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| KYNU | PSAT1 | 0.080679805 | KYNU | PSAT1 |
| PSAT1 | HSPG2 | 0.09964333 | PSAT1 | HSPG2 |
| MOCOS | PSAT1 | 0.113835433 | MOCOS | PSAT1 |
| HSPB1 | PSAT1 | 0.148537951 | HSPB1 | PSAT1 |
| TAGLN2 | PSAT1 | 0.104358346 | TAGLN2 | PSAT1 |
| PHGDH | PSAT1 | 0.274352591 | PHGDH | PSAT1 |
| UFM1 | PSAT1 | 0.09541251 | UFM1 | PSAT1 |
| PSAT1 | CAB39 | 0.078102295 | PSAT1 | CAB39 |
| ARF5 | PSAT1 | 0.071905296 | ARF5 | PSAT1 |
| RAC1 | PSAT1 | 0.112544996 | RAC1 | PSAT1 |