RANBP1

Chr 22

RAN binding protein 1

Also known as: HTF9A

NCBI Gene: 5902ENSG00000099901UniProt: P43487

This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

432
ClinVar variants
374
Pathogenic / LP
0.82
pLI score
0
Active trials
Clinical Summary— RANBP1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
374 Pathogenic / Likely Pathogenic· 53 VUS of 432 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
0.47LOEUF
pLI 0.822
Z-score 2.65
OE 0.10 (0.03–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

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.
1.99Z-score
OE missense 0.49 (0.39–0.60)
58 obs / 119.2 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.0.10 (0.03–0.47)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.49 (0.39–0.60)
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.1.20
0≤1.21.6
LoF obs/exp: 1 / 10.1Missense obs/exp: 58 / 119.2Syn Z: -1.06

ClinVar Variant Classifications

432 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic365
Likely Pathogenic9
VUS53
Likely Benign3
Benign2
365
Pathogenic
9
Likely Pathogenic
53
VUS
3
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
365
0
365
Likely Pathogenic
0
0
9
0
9
VUS
1
41
11
0
53
Likely Benign
0
1
0
2
3
Benign
0
0
1
1
2
Total1423863432

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

View in ClinVar →

Protein Context — Lollipop Plot

RANBP1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
RANBP1 Regulates NOTCH3-Mediated Autophagy in High Glucose-Induced Vascular Smooth Muscle Cells.
Xu ZJ et al.·Front Biosci (Landmark Ed)
2025
CD147 supports paclitaxel resistance via interacting with RanBP1.
Nan G et al.·Oncogene
2022
RanBP1, a Ras-like nuclear G protein binding to Ran/TC4, inhibits RCC1 via Ran/TC4.
Hayashi N et al.·Mol Gen Genet
1995
Quantitative proteomic landscape of the pathophysiology of adhesive arachnoiditis and its clinical significance: Structure and mechanism of TNC and RANBP1 proteins.
Zhang W et al.·Int J Biol Macromol
2025Functional
Th17-Gene Expression Profile in Patients with Chronic Venous Disease and Venous Ulcers: Genetic Modulations and Preliminary Clinical Evidence.
Amato R et al.·Biomolecules
2022Cohort
Exploring the regulatory mechanisms of paraptosis-related prognostic genes in gastric cancer using single-cell sequencing and transcriptome analysis.
Liu Z et al.·Sci Rep
2025Functional
Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma.
Comiskey DF Jr et al.·J Med Genet
2020Functional
Glucocorticoid Receptor Signaling Mediates Resistance to Therapy in Matrix Rigidity-Induced Dormant Brain Metastatic Breast Cancer Spheroids.
Luna SN et al.·ACS Biomater Sci Eng
2025
Increased cathepsin D protein expression is a biomarker for osteosarcomas, pulmonary metastases and other bone malignancies.
Gemoll T et al.·Oncotarget
2015
RAN nucleo-cytoplasmic transport and mitotic spindle assembly partners XPO7 and TPX2 are new prognostic biomarkers in serous epithelial ovarian cancer.
Cáceres-Gorriti KY et al.·PLoS One
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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