SEPHS1 — selenophosphate synthetase 1

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

46PubMed Papers

#9,341 · top 48% of 19K genes

21Diseases

top 20%

0Drugs

4Pathogenic Variants

top 74%

OMIM Disease GeneHighly ConstrainedKinaseExperimental GO EvidenceSwiss-Prot Reviewed

L-selenocysteine biosynthetic processprotein bindingidentical protein bindingcell redox homeostasisneurodegenerative diseaseNeurodevelopmental disorderAbnormality of the gastrointestinal tractrenal osteodystrophy

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

selenophosphate synthetase 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

neurodegenerative diseaseOpen Targets

0.53Moderate

Neurodevelopmental disorderOpen Targets

0.42Moderate

Abnormality of the gastrointestinal tractOpen Targets

0.31Weak

renal osteodystrophyOpen Targets

0.26Weak

drug allergyOpen Targets

0.23Weak

male infertilityOpen Targets

0.23Weak

diabetic ketoacidosisOpen Targets

0.23Weak

neoplasmOpen Targets

0.09Suggestive

cancerOpen Targets

0.09Suggestive

hepatocellular carcinomaOpen Targets

0.08Suggestive

microphthalmia with limb anomaliesOpen Targets

0.06Suggestive

melanomaOpen Targets

0.05Suggestive

placenta praeviaOpen Targets

0.04Suggestive

insomniaOpen Targets

0.04Suggestive

colorectal carcinomaOpen Targets

0.04Suggestive

ovarian dysfunctionOpen Targets

0.02Suggestive

adrenal cortex carcinomaOpen Targets

0.02Suggestive

lung adenocarcinomaOpen Targets

0.01Suggestive

urinary bladder carcinomaOpen Targets

0.01Suggestive

breast cancerOpen Targets

0.01Suggestive

Ververi-Brady syndrome 2UniProt

Pathogenic Variants4

NM_012247.5(SEPHS1):c.1112G>A (p.Arg371Gln)Pathogenic

not provided|SEPHS1-related developmental delay|Ververi-Brady syndrome 2

★★☆☆2025→ Residue 371

NM_012247.5(SEPHS1):c.1111C>G (p.Arg371Gly)Likely pathogenic

not provided|Ververi-Brady syndrome 2

★☆☆☆2022→ Residue 371

NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)Pathogenic

SEPHS1-related disorder|not provided|Ververi-Brady syndrome 2

★☆☆☆2022→ Residue 371

NM_012247.5(SEPHS1):c.1054T>G (p.Trp352Gly)Pathogenic

not provided

★☆☆☆2022→ Residue 352

Tissue Expression6 tissues

Brain

100%

Liver

85%

Heart

63%

Ovary

54%

Bone Marrow

50%

Lung

39%

Gene Interaction Network6 neighbors

Click a node to explore

Structure4 PDB hits

Preparing viewer…

PDB3FD5 · 1.90 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.25Highly Constrained

pLIⓘ

1.00Intolerant

Observed/Expected LoF0.10 [0.04–0.25]

Rankings3 dim

Where SEPHS1 stands among ~20K protein-coding genes

#9,378of 20,598
Most Researched46
#3,856of 5,520
Most Pathogenic Variants4
#793of 17,882
Most Constrained (LOEUF)0.25 · top 5%