NAB1

Chr 2

NGFI-A binding protein 1

NCBI Gene: 4664ENSG00000138386UniProt: Q13506OMIM: 600800

NAB1 encodes a transcriptional repressor that inhibits the zinc finger transcription factors EGR1 and EGR2, which are important for nervous system development. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with intellectual disability, developmental delay, and various neurological features. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.59), consistent with its role in essential developmental processes.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.59
Clinical Summary— NAB1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.59LOEUF
pLI 0.022
Z-score 3.00
OE 0.31 (0.18–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.35Z-score
OE missense 0.76 (0.68–0.86)
194 obs / 254.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.31 (0.18–0.59)
0≤0.351.4
Missense OE0.76 (0.68–0.86)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 7 / 22.3Missense obs/exp: 194 / 254.6Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NAB1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A Novel Protein NAB1-356 Encoded by circRNA circNAB1 Mitigates Atrial Fibrillation by Reducing Inflammation and Fibrosis.
Du WW et al.·Adv Sci (Weinh)
2025Open Access
N6-Methyladenosine modified circ-NAB1 modulates cell cycle and epithelial-mesenchymal transition via CDKN3 in endometrial cancer.
Zhang J et al.·Cell Mol Biol (Noisy-le-grand)
2024
Ubenimex Suppresses the Ability of Migration and Invasion in Gastric Cancer Cells by Alleviating the Activity of the CD13/NAB1/MAPK Pathway.
Liu X et al.·Cancer Manag Res
2021Open Access
Solution structure of the RNA-binding cold-shock domain of the Chlamydomonas reinhardtii NAB1 protein and insights into RNA recognition.
Sawyer AL et al.·Biochem J
2015
Type I IFNs downregulate myeloid cell IFN-γ receptor by inducing recruitment of an early growth response 3/NGFI-A binding protein 1 complex that silences ifngr1 transcription.
Kearney SJ et al.·J Immunol
2013
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