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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AKTIP
AKT interacting protein
Chromosome 16 · 16q12.2
NCBI Gene: 64400Ensembl: ENSG00000166971.18HGNC: HGNC:16710UniProt: Q9H8T0
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
FHF complexplasma membranepositive regulation of protein bindingHOPS complexesophageal diseasegastroesophageal reflux diseasebrain cancermathematical ability
✦AI Summary

AKTIP (AKT interacting protein) is a multifunctional protein with roles in telomere maintenance, cell division, and vesicle trafficking. As a component of the FTS/Hook/FHIP (FHF) complex, AKTIP promotes vesicle trafficking and fusion via interaction with the HOPS complex 1. AKTIP serves as a shelterin-interacting factor essential for telomere maintenance, where it facilitates telomeric DNA replication through interaction with TRF1 and TRF2, and physically associates with PCNA and RPA70 replication factors 2. During mitosis, AKTIP functions as part of the ESCRT machinery at the midbody, interacting with ESCRT I component VPS28 and facilitating recruitment of ESCRT III subunits CHMP4B and IST1 for proper cell division 3. The protein also interacts with A- and B-type lamins and localizes at the nuclear rim, playing a role in nuclear architecture and cellular senescence regulation 4. Loss of AKTIP has significant disease implications, driving tumorigenesis specifically in ERα-positive breast cancer through increased ERα protein levels and JAK2-STAT3 activation, contributing to endocrine resistance 5. Additionally, AKTIP shows altered expression in neuropsychiatric conditions, with elevated levels observed in a subgroup of schizophrenia patients with muscarinic receptor deficits 6.

Sources cited
1
AKTIP is a component of the FHF complex that promotes vesicle trafficking via HOPS complex interaction
PMID: 32073997
2
AKTIP is a shelterin-interacting factor required for telomere maintenance and DNA replication
PMID: 26110528
3
AKTIP functions as part of ESCRT machinery at the midbody during cell division
PMID: 34449766
4
AKTIP interacts with lamins and regulates nuclear architecture and cellular senescence
PMID: 27512140
5
AKTIP loss drives ERα-positive breast cancer tumorigenesis and endocrine resistance
PMID: 36516775
6
AKTIP levels are elevated in a subgroup of schizophrenia patients with muscarinic receptor deficits
PMID: 39236366
Disease Associationsⓘ20
esophageal diseaseOpen Targets
0.33Weak
gastroesophageal reflux diseaseOpen Targets
0.32Weak
brain cancerOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.26Weak
liver diseaseOpen Targets
0.25Weak
intelligenceOpen Targets
0.23Weak
Abnormal pupillary functionOpen Targets
0.23Weak
attention deficit hyperactivity disorderOpen Targets
0.16Weak
autism spectrum disorderOpen Targets
0.16Weak
Abnormality of the skeletal systemOpen Targets
0.15Weak
diabetes mellitusOpen Targets
0.11Weak
ovarian dysfunctionOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
health study participationOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
smoking cessationOpen Targets
0.07Suggestive
HeadacheOpen Targets
0.06Suggestive
cervical cancerOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
DermatochalasisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNFSF13BProtein interaction100%TERF1Protein interaction91%HOOK1Protein interaction81%HOOK2Protein interaction80%AKT1Protein interaction78%HOOK3Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Bone Marrow
50%
Ovary
50%
Liver
47%
Lung
45%
Gene Interaction Network
Click a node to explore
AKTIPTNFSF13BTERF1HOOK1HOOK2AKT1HOOK3
PROTEIN STRUCTURE
Preparing viewer…
PDB8QAT · 3.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.37Tolerant
Observed/Expected LoF0.40 [0.27–0.61]
RankingsWhere AKTIP stands among ~20K protein-coding genes
  • #8,521of 20,598
    Most Researched52
  • #4,256of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedAKTIP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of AKTIP as a biomarker for fibrolamellar carcinoma using WGCNA and machine learning.
PMID: 40417661
3 Biotech · 2025
1.00
2
AKTIP interacts with ESCRT I and is needed for the recruitment of ESCRT III subunits to the midbody.
PMID: 34449766
PLoS Genet · 2021
0.90
3
The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence.
PMID: 27512140
Open Biol · 2016
0.80
4
AKTIP loss is enriched in ERα-positive breast cancer for tumorigenesis and confers endocrine resistance.
PMID: 36516775
Cell Rep · 2022
0.70
5
Higher levels of AKT-interacting protein in the frontal pole from people with schizophrenia are limited to a sub-group who have a marked deficit in cortical muscarinic M1 receptors.
PMID: 39236366
Psychiatry Res · 2024
0.60