AURKAIP1

Chr 1

aurora kinase A interacting protein 1

Also known as: AIP, AKIP, MRP-S38, mS38

NCBI Gene: 54998ENSG00000175756UniProt: Q9NWT8

The protein acts as a negative regulator of Aurora-A kinase by promoting its proteasome-dependent degradation and functions in positive regulation of proteolysis within the mitochondrial matrix and nucleoplasm. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early infancy. This gene shows very low constraint against loss-of-function variants (pLI 0.0001, LOEUF 1.77).

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
6
Pubs (1 yr)
136
P/LP submissions
0%
P/LP missense
1.77
LOEUF
DN
Mechanism· predicted
Clinical Summary— AURKAIP1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
129 unique Pathogenic / Likely Pathogenic· 48 VUS of 183 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.77LOEUF
pLI 0.000
Z-score 0.02
OE 0.99 (0.54–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.03Z-score
OE missense 1.01 (0.87–1.17)
126 obs / 125.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.99 (0.54–1.77)
0≤0.351.4
Missense OE1.01 (0.87–1.17)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 6 / 6.1Missense obs/exp: 126 / 125.1Syn Z: -1.48
DN
0.6258th %ile
GOF
0.5366th %ile
LOF
0.4331th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

183 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic122
Likely Pathogenic7
VUS48
Likely Benign2
122
Pathogenic
7
Likely Pathogenic
48
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
122
0
122
Likely Pathogenic
0
0
7
0
7
VUS
0
29
19
0
48
Likely Benign
0
1
1
0
2
Benign
0
0
0
0
0
Total0301490179

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

View in ClinVar →

Protein Context — Lollipop Plot

AURKAIP1 · 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
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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 3 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