APOBEC3H

Chr 22

apolipoprotein B mRNA editing enzyme catalytic subunit 3H

Also known as: A3H, ARP-10, ARP10

NCBI Gene: 164668ENSG00000100298UniProt: Q6NTF7

This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

52
ClinVar variants
15
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— APOBEC3H
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 28 VUS of 52 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.
1.02LOEUF
pLI 0.002
Z-score 1.53
OE 0.52 (0.28–1.02)
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.
0.02Z-score
OE missense 1.00 (0.86–1.15)
127 obs / 127.6 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.0.52 (0.28–1.02)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.00 (0.86–1.15)
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.1.11
0≤1.21.6
LoF obs/exp: 6 / 11.6Missense obs/exp: 127 / 127.6Syn Z: -0.63

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
VUS28
Likely Benign3
Benign1
15
Pathogenic
28
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
0
0
0
VUS
0
26
2
0
28
Likely Benign
0
2
0
1
3
Benign
0
0
0
1
1
Total02817247

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

View in ClinVar →

Protein Context — Lollipop Plot

APOBEC3H · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Association between APOBEC3H-Mediated Demethylation and Immune Landscape in Head and Neck Squamous Carcinoma.
Liu Q et al.·Biomed Res Int
2020
Polymorphism in human APOBEC3H affects a phenotype dominant for subcellular localization and antiviral activity.
Li MM et al.·J Virol
2011
Genetic and mechanistic basis for APOBEC3H alternative splicing, retrovirus restriction, and counteraction by HIV-1 protease.
Ebrahimi D et al.·Nat Commun
2018
Different antiviral activities of natural APOBEC3C, APOBEC3G, and APOBEC3H variants against hepatitis B virus.
Kanagaraj A et al.·Biochem Biophys Res Commun
2019
The eQTL-missense polymorphisms of APOBEC3H are associated with lung cancer risk in a Han Chinese population.
Zhu M et al.·Sci Rep
2015
Polymorphisms in Human APOBEC3H Differentially Regulate Ubiquitination and Antiviral Activity.
Chesarino NM et al.·Viruses
2020
APOBEC3H haplotypes and HIV-1 pro-viral vif DNA sequence diversity in early untreated human immunodeficiency virus-1 infection.
Gourraud PA et al.·Hum Immunol
2011
Reduced APOBEC3H variant anti-viral activities are associated with altered RNA binding activities.
Zhen A et al.·PLoS One
2012
Developing an RNA Signature for Radiation Injury Using a Human Liver-on-a-Chip Model.
Martello S et al.·Radiat Res
2024Functional
Identification of APOBEC3DE as another antiretroviral factor from the human APOBEC family.
Dang Y et al.·J Virol
2006
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Differential effects on tumor progression by APOBEC3A, APOBEC3B, and APOBEC3H Haplotype I in a breast cancer mouse xenograft model.
Granadillo Rodríguez M et al.·Front Genet
2025🔓 Open AccessFunctional
HIV-1 vif mediates ubiquitination of the proximal protomer in the APOBEC3H dimer to induce degradation.
Skorupka KA et al.·Nat Commun
2025🔓 Open Access
Comparative Molecular Docking of Apigenin and Luteolin versus Conventional Ligands for TP-53, pRb, APOBEC3H, and HPV-16 E6: Potential Clinical Applications in Preventing Gynecological Malignancies.
Dunjic M et al.·Curr Issues Mol Biol
2024🔓 Open Access
Structural basis of HIV-1 Vif-mediated E3 ligase targeting of host APOBEC3H.
Ito F et al.·Nat Commun
2023🔓 Open Access
Stability of APOBEC3F in the Presence of the APOBEC3 Antagonist HIV-1 Vif Increases at the Expense of Co-Expressed APOBEC3H Haplotype I.
Yousefi M et al.·Viruses
2023🔓 Open Access
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