SEPSECS
entrez
51091
canonical
uniprot
Q9HD40
canonical
ensembl
ENSG00000109618
resolver
ensp
ENSP00000371535
resolver
ensp
ENSP00000505991
resolver
ensp
ENSP00000622646
resolver
enst
ENST00000681948
resolver
genesymbol
SEPSECS
resolver
genesymbol_syn
LP
resolver
genesymbol_syn
SLA
resolver
genesymbol_syn
TRNP48
resolver
hgnc
HGNC:30605
resolver
uniprot
A0A7P0TA23
resolver
uniprot
A1A4F3
resolver
uniprot
A8K8W1
resolver
uniprot
Q0D2P3
resolver
uniprot
Q17RT1
resolver
uniprot
Q9NXZ5
resolver
uniprot
Q9UGM9
resolver
uniprot
Q9Y353
resolver
uniprot_entry
A0A7P0TA23_HUMAN
resolver
uniprot_entry
A1A4F3_HUMAN
resolver
uniprot_entry
SPCS_HUMAN
resolver
uniprot_sec
A8K8W1
resolver
uniprot_sec
Q0D2P3
resolver
uniprot_sec
Q17RT1
resolver
uniprot_sec
Q9NXZ5
resolver
uniprot_sec
Q9UGM9
resolver
uniprot_sec
Q9Y353
resolver
amino_acid_sequence
MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGEREGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTLCFLTLRHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTSCFAPRVPDRLEELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFNDSFIQEISKMYPGRASASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAMTLKTLDEHRDKAVTQLGSMLFTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLFIKRLDRCLKAVRKERSKESDDNYDKTEDVDIEEMALKLDNVLLDTYQDASS
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]: A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound intellectual disability, spasticity, and variable seizures. {ECO:0000269|PubMed:20920667, ECO:0000269|PubMed:26115735}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.9.1.2
uniprot
proteins
function
FUNCTION: Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis. {ECO:0000269|PubMed:17142313}.
uniprot
proteins
mass_dalton
55726
uniprot
proteins
mutagenesis
MUTAGEN 75; /note="R->A: Inactive in vivo."; /evidence="ECO:0000269|PubMed:19608919"; MUTAGEN 97; /note="R->A: Indistinguishable from wild-type."; /evidence="ECO:0000269|PubMed:19608919"; MUTAGEN 97; /note="R->Q: Indistinguishable from wild-type."; /evidence="ECO:0000269|PubMed:19608919"; MUTAGEN 105; /note="Q->A: Inactive in vivo."; /evidence="ECO:0000269|PubMed:19608919"; MUTAGEN 173; /note="K->A: Indistinguishable from wild-type."; /evidence="ECO:0000269|PubMed:19608919"; MUTAGEN 173; /note="K->M: Indistinguishable from wild-type."; /evidence="ECO:0000269|PubMed:19608919"; MUTAGEN 284; /note="K->A: Loss of activity."; /evidence="ECO:0000269|PubMed:17142313"; MUTAGEN 313; /note="R->A: Inactive in vivo."; /evidence="ECO:0000269|PubMed:19608919
uniprot
proteins
pathway_participation
PATHWAY: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 2/2. {ECO:0000269|PubMed:17142313}.
uniprot
proteins
protein_family
SepSecS family
uniprot
proteins
pubmed
10801173
uniprot
proteins
pubmed
10931155
uniprot
proteins
pubmed
11230739
uniprot
proteins
pubmed
11826415
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16508009
uniprot
proteins
pubmed
17142313
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608919
uniprot
proteins
pubmed
20920667
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26115735
uniprot
proteins
pubmed
28414460
uniprot
proteins
sequence_length
501
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28414460}.
uniprot
proteins