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SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51091
Gene nameGene Name - the full gene name approved by the HGNC.
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SEPSECS
SynonymsGene synonyms aliases
LP, PCH2D, SLA, SLA-p35, SLA/LP, SecS
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p15.2
SummarySummary of gene provided in NCBI Entrez Gene.
The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process,
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs146539065 C>T Likely-pathogenic Synonymous variant, coding sequence variant
rs267607035 C>T Pathogenic Coding sequence variant, missense variant
rs267607036 T>C Pathogenic Coding sequence variant, missense variant
rs757504141 T>C Likely-pathogenic Intron variant
rs773876739 T>A,C Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048507 hsa-miR-100-5p CLASH 23622248
MIRT653947 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT653946 hsa-miR-1264 HITS-CLIP 23824327
MIRT653945 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT653944 hsa-miR-513c-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA 21873635
GO:0000049 Function TRNA binding ISS
GO:0001514 Process Selenocysteine incorporation IBA 21873635
GO:0001514 Process Selenocysteine incorporation ISS
GO:0005515 Function Protein binding IPI 22190034
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9HD40
Protein name O-phosphoseryl-tRNA(Sec) selenium transferase (EC 2.9.1.2) (Liver-pancreas antigen) (LP) (SLA-p35) (SLA/LP autoantigen) (Selenocysteine synthase) (Sec synthase) (Selenocysteinyl-tRNA(Sec) synthase) (Sep-tRNA:Sec-tRNA synthase) (SepSecS) (Soluble liver ant
Protein function Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.
PDB 3HL2 , 4ZDL , 4ZDO , 4ZDP , 7L1T , 7MDL , 8G9Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05889 SepSecS
61 459
O-phosphoseryl-tRNA(Sec) selenium transferase, SepSecS
Domain
Sequence
Sequence length 501
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Selenocompound metabolism
Aminoacyl-tRNA biosynthesis
Metabolic pathways
  Selenocysteine synthesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Spastic diplegia Little`s Disease rs672601336
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Cerebellar atrophy Cerebellar atrophy
Cerebellar hypoplasia Cerebellar Hypoplasia
Cerebral atrophy Cerebral atrophy
Dysarthria Dysarthria

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