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InnateDB Protein
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IDBP-72638.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PSAT1
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Protein Name
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phosphoserine aminotransferase 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000365773
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InnateDB Gene
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IDBG-72636 (PSAT1)
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Protein Structure
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| Function |
Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine. {ECO:0000250}.
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| Subcellular Localization |
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| Disease Associations |
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. {ECO:0000269PubMed:17436247}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
26
[view]
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| Protein-Protein |
25
[view]
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| Protein-DNA |
1
[view]
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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Molecular Function |
| Accession |
GO Term |
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GO:0004648
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O-phospho-L-serine:2-oxoglutarate aminotransferase activity
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GO:0030170
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pyridoxal phosphate binding
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR000192
Aminotransferase class V domain
IPR003248
Phosphoserine aminotransferase, subgroup
IPR015424
Pyridoxal phosphate-dependent transferase
IPR022278
Phosphoserine aminotransferase
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| PFAM |
PF00266
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| PRINTS |
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| PIRSF |
PIRSF000525
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
Q9Y617
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| PhosphoSite |
PhosphoSite-Q9Y617
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| TrEMBL |
B4DHQ3
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| UniProt Splice Variant |
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| Entrez Gene |
29968
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| UniGene |
Hs.494261
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| RefSeq |
NP_478059
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| HUGO |
HGNC:19129
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| OMIM |
610936
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| CCDS |
CCDS6660
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| HPRD |
17918
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| IMGT |
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| EMBL |
AF113132
AK295222
AL353594
AY131232
BC000971
BC004863
BC016645
BC018129
BT006840
CH471089
EU257144
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| GenPept |
AAD42052
AAH00971
AAH04863
AAH16645
AAH18129
AAN71736
AAP35486
ABX55932
BAG58215
CAI16882
CAI16883
EAW62617
EAW62621
EAW62622
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