SELENBP1

Chr 1AR

selenium binding protein 1

Also known as: EHMTO, HEL-S-134P, LPSB, MTO, SBP56, SP56, hSBP

NCBI Gene: 8991ENSG00000143416UniProt: Q13228

This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

Primary Disease Associations & Inheritance

Extraoral halitosis due to MTO deficiencyMIM #618148
AR
114
ClinVar variants
17
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SELENBP1
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Gene-Disease Validity (ClinGen)
extraoral halitosis due to methanethiol oxidase deficiency · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
17 Pathogenic / Likely Pathogenic· 79 VUS of 114 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.29LOEUF
pLI 0.000
Z-score 0.35
OE 0.93 (0.67–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.45Z-score
OE missense 0.92 (0.83–1.02)
262 obs / 283.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.93 (0.67–1.29)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.83–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 25 / 27.0Missense obs/exp: 262 / 283.3Syn Z: -0.22

ClinVar Variant Classifications

114 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic4
VUS79
Likely Benign9
Benign9
13
Pathogenic
4
Likely Pathogenic
79
VUS
9
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
12
0
13
Likely Pathogenic
0
2
2
0
4
VUS
0
75
4
0
79
Likely Benign
0
1
4
4
9
Benign
0
3
3
3
9
Total181257114

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SELENBP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Extraoral halitosis due to MTO deficiency

MIM #618148

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Role of SELENBP1 and SELENOF in prostate cancer bioenergetics.
Bera S et al.·Arch Biochem Biophys
2022Review
SLC34A2 inhibits tumorigenesis and progression via upregulating LRRK2/TTF-1/SELENBP1 axis in lung adenocarcinoma.
Zhu Y et al.·Cancer Gene Ther
2025
Identification of proteomic signatures associated with lung cancer and COPD.
Pastor MD et al.·J Proteomics
2013Clinical trial
Downregulation of SELENBP1 enhances oral squamous cell carcinoma chemoresistance through KEAP1-NRF2 signaling.
Zeng H et al.·Cancer Chemother Pharmacol
2021
Selenium-binding protein 1 inhibits malignant progression and induces apoptosis via distinct mechanisms in non-small cell lung cancer.
Zhu Y et al.·Cancer Med
2023Functional
Tumor microenvironment-related gene selenium-binding protein 1 (SELENBP1) is associated with immunotherapy efficacy and survival in colorectal cancer.
Zhu C et al.·BMC Gastroenterol
2022
Effect of mechanical tension on fibroblast transcriptome profile and regulatory mechanisms of myocardial collagen turnover.
Shiraishi M et al.·FASEB J
2023Functional
Longitudinal multi-omics analysis of umbilical cord blood and childhood serum in Autism.
Noone A et al.·Mol Psychiatry
2026Natural history
A Machine Learning-Based Hypoxia-Related Gene Signatures to Facilitate Prediction of Cetuximab Response in Patients with Colorectal Cancer.
Zhang C et al.·Int J Med Sci
2025Cohort
Single-cell transcriptomic profiling reveals the heterogeneity of epithelial cells in lung adenocarcinoma lymph node metastasis and develops a prognostic signature.
Mu Q et al.·Front Immunol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Correction to "DNA Methylation of miR-122 Aggravates Oxidative Stress in Colitis Targeting SELENBP1 Partially by p65NF-κB Signaling".
·Oxid Med Cell Longev
2026🔓 Open Access
Targeting LAMP2A Enhances SELENBP1 Expression and Suppresses Malignant Behaviors in HNSCC.
Cao H et al.·Mol Cancer Res
2026
SELENBP1 protects against kidney fibrosis in chronic kidney disease as a methanethiol oxidase.
Zhang Y et al.·Sci China Life Sci
2025
Up-regulation of SELENBP1 in inflammatory macrophages promoted proliferation and migration of synovial fibroblasts by promoting ROS production via blocking NRF2 signaling in rheumatoid arthritis.
Dai L et al.·Cent Eur J Immunol
2025🔓 Open Access
SELENBP1 Inhibits the Malignant Progression and Radioresistance of Nasopharyngeal Carcinoma Cells Through the KEAP1-NRF2 Signaling Pathway.
Dong J et al.·Biochem Genet
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools