InnateDB Protein
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IDBP-12105.6
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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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SEPSECS
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Protein Name
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Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
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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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ENSP00000371535
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InnateDB Gene
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IDBG-12103 (SEPSECS)
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Protein Structure
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Function |
Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl- tRNA(Sec) required for selenoprotein biosynthesis. {ECO:0000269PubMed:17142313}.
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Subcellular Localization |
Cytoplasm.
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Disease Associations |
Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]: A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures. {ECO:0000269PubMed:20920667}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells.
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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 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
1
[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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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008829
Soluble liver antigen/liver pancreas antigen
IPR015424
Pyridoxal phosphate-dependent transferase
IPR019872
O-phosphoseryl-tRNA(Sec) selenium transferase
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PFAM |
PF05889
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PRINTS |
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PIRSF |
PIRSF017689
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9HD40
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PhosphoSite |
PhosphoSite-Q9HD40
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TrEMBL |
A1A4F3
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UniProt Splice Variant |
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Entrez Gene |
51091
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UniGene |
Hs.253305
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RefSeq |
NP_058651
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HUGO |
HGNC:30605
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OMIM |
613009
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CCDS |
CCDS3432
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HPRD |
11561
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IMGT |
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EMBL |
AC007073
AC104662
AF146396
AF282065
AJ238617
AJ277541
AK292476
BC023539
BC117202
BC126213
BX648976
CH471069
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GenPept |
AAD33963
AAG00491
AAH23539
AAI17203
AAI26214
BAF85165
CAB62209
CAB89517
EAW92831
EAW92832
EAW92835
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