SEPHS1
entrez
22929
canonical
uniprot
P49903
canonical
ensembl
ENSG00000086475
resolver
ensp
ENSP00000367877
resolver
ensp
ENSP00000367893
resolver
ensp
ENSP00000441119
resolver
ensp
ENSP00000547650
resolver
ensp
ENSP00000547651
resolver
ensp
ENSP00000595409
resolver
genesymbol
SEPHS1
resolver
genesymbol_syn
SELD
resolver
genesymbol_syn
SPS
resolver
genesymbol_syn
SPS1
resolver
hgnc
HGNC:19685
resolver
uniprot
B4DWK0
resolver
uniprot
D3DRS9
resolver
uniprot
D6PSQ9
resolver
uniprot
Q5T5U8
resolver
uniprot
Q5T5U9
resolver
uniprot
Q9BVT4
resolver
uniprot_entry
SPS1_HUMAN
resolver
uniprot_sec
B4DWK0
resolver
uniprot_sec
D3DRS9
resolver
uniprot_sec
D6PSQ9
resolver
uniprot_sec
Q5T5U8
resolver
uniprot_sec
Q5T5U9
resolver
uniprot_sec
Q9BVT4
resolver
activity_regulation
ACTIVITY REGULATION: Activated by phosphate ions and by potassium ions. {ECO:0000269|PubMed:19477186}.
uniprot
proteins
amino_acid_sequence
MSTRESFNPESYELDKSFRLTRFTELKGTGCKVPQDVLQKLLESLQENHFQEDEQFLGAVMPRLGIGMDTCVIPLRHGGLSLVQTTDYIYPIVDDPYMMGRIACANVLSDLYAMGVTECDNMLMLLGVSNKMTDRERDKVMPLIIQGFKDAAEEAGTSVTGGQTVLNPWIVLGGVATTVCQPNEFIMPDNAVPGDVLVLTKPLGTQVAVAVHQWLDIPEKWNKIKLVVTQEDVELAYQEAMMNMARLNRTAAGLMHTFNAHAATDITGFGILGHAQNLAKQQRNEVSFVIHNLPVLAKMAAVSKACGNMFGLMHGTCPETSGGLLICLPREQAARFCAEIKSPKYGEGHQAWIIGIVEKGNRTARIIDKPRIIEVAPQVATQNVNPTPGATS
uniprot
proteins
disease_involvement
DISEASE: Ververi-Brady syndrome 2 (VERBRAS2) [MIM:621325]: An autosomal dominant neurodevelopmental disorder characterized by developmental delay, mildly impaired intellectual development, poor growth, hypotonia, and dysmorphic facial features. {ECO:0000269|PubMed:38531365, ECO:0000269|PubMed:40608935}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.9.3
uniprot
proteins
function
FUNCTION: Core component of the zincore complex, a heterotetramer that acts as a molecular 'grip' to stabilize transcription factors at DNA-binding sites across the genome, thereby controlling gene expression (PubMed:40608935). The zincore complex binds specifically to zinc finger transcription factors, such as ZFP91, ZNF652, ZNF526 and PRDM15, and stabilizes them onto their cognate DNA motif (PubMed:40608935). Within the complex, SEPHS1, recognizes and binds the backbone of zinc fingers of transcription factors in a sequence-independent manner via its arginine clamp, enhancing their DNA-binding stability (PubMed:40608935). Plays an essential role in redox homeostasis (PubMed:31607477). May also be involved in selenocysteine biosynthesis by catalyzing formation of selenophosphate from selenide and ATP (PubMed:7665581). Its role in selenocysteine biosynthesis is however unclear and several studies suggest that it does not act as a selenophosphate synthase in vivo or plays an non-essential role (PubMed:15534230). Required for cardiac differentiation (By similarity). {ECO:0000250|UniProtKB:Q8BH69, ECO:0000269|PubMed:15534230, ECO:0000269|PubMed:31607477, ECO:0000269|PubMed:40608935, ECO:0000269|PubMed:7665581}.
uniprot
proteins
mass_dalton
42911
uniprot
proteins
mutagenesis
MUTAGEN 85; /note="T->A: Strongly reduced ADP hydrolysis."; /evidence="ECO:0000269|PubMed:19477186"; MUTAGEN 226; /note="L->R: Slightly decreased DNA-binding and transcriptional activity of ZFP91."; /evidence="ECO:0000269|PubMed:40608935"; MUTAGEN 268; /note="G->C: No change in ATP-binding."; /evidence="ECO:0000269|PubMed:7665581"; MUTAGEN 270; /note="G->R: No change in ATP-binding."; /evidence="ECO:0000269|PubMed:7665581"; MUTAGEN 273; /note="G->A,D,V: Loss of ATP-binding."; /evidence="ECO:0000269|PubMed:7665581"; MUTAGEN 274; /note="H->N: Reduced ATP-binding."; /evidence="ECO:0000269|PubMed:7665581"; MUTAGEN 274; /note="H->Y: Increased ATP-binding."; /evidence="ECO:0000269|PubMed:7665581"; MUTAGEN 330; /note="R->E: Decreased DNA-binding and transcriptional activity of ZFP91."; /evidence="ECO:0000269|PubMed:40608935"; MUTAGEN 369; /note="K->A: Slightly decreased DNA-binding and transcriptional activity of ZFP91."; /evidence="ECO:0000269|PubMed:40608935
uniprot
proteins
protein_family
Class II subfamily
uniprot
proteins
protein_family
Selenophosphate synthase 1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15534230
uniprot
proteins
pubmed
16508009
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19477186
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20471958
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28414460
uniprot
proteins
pubmed
31607477
uniprot
proteins
pubmed
38531365
uniprot
proteins
pubmed
40608935
uniprot
proteins
pubmed
7665581
uniprot
proteins
sequence_length
392
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:40608935}. Chromosome {ECO:0000269|PubMed:40608935}. Cytoplasm {ECO:0000269|PubMed:28414460}. Note=The zincore complex binds to a highly conserved promoter motif (5'-CTTTAAR-3'). {ECO:0000269|PubMed:40608935}.; SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:20471958}; Peripheral membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000269|PubMed:20471958}; Peripheral membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:20471958}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:20471958}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm {ECO:0000269|PubMed:20471958}.
uniprot
proteins