SERBP1

Chr 1

SERPINE1 mRNA binding protein 1

Also known as: CGI-55, CHD3IP, HABP4L, Hero45, PAI-RBP1, PAIRBP1

NCBI Gene: 26135ENSG00000142864UniProt: Q8NC51

The SERBP1 protein promotes ribosome hibernation by stabilizing ribosomes in an inactive state and also regulates mRNA stability by binding to mRNA 3'-UTR regions. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. This gene is highly constrained against loss-of-function variants, indicating that SERBP1 haploinsufficiency is likely not tolerated in humans.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
19
Pubs (1 yr)
23
P/LP submissions
0%
P/LP missense
0.18
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— SERBP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 58 VUS of 95 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.18LOEUF
pLI 0.999
Z-score 4.57
OE 0.04 (0.01–0.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.67Z-score
OE missense 0.70 (0.62–0.80)
178 obs / 252.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.04 (0.01–0.18)
0≤0.351.4
Missense OE0.70 (0.62–0.80)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 1 / 26.3Missense obs/exp: 178 / 252.7Syn Z: -0.87
DN
0.3395th %ile
GOF
0.3193th %ile
LOF
0.85top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.18

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

95 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic1
VUS58
22
Pathogenic
1
Likely Pathogenic
58
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
1
0
1
VUS
0
54
4
0
58
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total05427081

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

View in ClinVar →

Protein Context — Lollipop Plot

SERBP1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients