SEPHS1

Chr 10p13

selenophosphate synthetase 1

Aliases:: SPS, SPS1
MANE:: ENST00000327347.10

OMIM: 600902 ↗NCBI: 22929 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SEPHS1 · P49903

v62025-08-01

Predicted Aligned Error matrix for SEPHS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.6/ 100

Confident

392 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)11%
Low(50–70)6%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.53
neurodevelopmental disorder
0.51
Abnormality of the gastrointestinal tract
0.27
renal osteodystrophy
0.24
drug allergy
0.19
diabetic ketoacidosis
0.19
male infertility
0.19
neoplasm
0.09
cancer
0.09
hepatocellular carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zincore component SEPHS1

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)