AKTIP (AKT Interacting Protein)
A gene encoding a protein involved in vesicular trafficking and telomere maintenance, linked to cancer and developmental disorders.
Gene Information Card
| Symbol | AKTIP |
|---|---|
| Full Name | AKT Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 16q12.2 |
| NCBI Gene ID | 64400 ncbi.nlm.nih.gov/gene/64400 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9H8T0 |
| OMIM ID | 608483 |
| HGNC ID | 24068 |
| Aliases | FT1, Fused toes homolog |
Description
AKTIP encodes a protein that interacts with AKT1 and is involved in vesicular trafficking, cytokinesis, and telomere maintenance. It is the human homolog of the mouse fused toes gene. Mutations in AKTIP are associated with autosomal recessive primary microcephaly and short stature, and the gene is implicated in cancer through altered expression and copy number variations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly with short stature | Loss-of-function mutations impair telomere maintenance and cell division | OMIM #617731 |
| Breast cancer | Overexpression and copy number gain promote AKT signaling and cell proliferation | COSMIC, PubMed |
| Lung cancer | Amplification and increased expression linked to poor prognosis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 7.1 | Low |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.0 | Cervical cancer cell line |
| A549 | 9.5 | Lung cancer cell line |
| MCF7 | 8.8 | Breast cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.497_498del (p.Glu166Glyfs*12) | Frameshift | Rare | Loss of function |
| Amplification | Copy number gain | Common in cancer | Overexpression, gain of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, causing microcephaly and short stature.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance AKT signaling and cell proliferation.
Dominant Negative (DN)
Not reported for AKTIP.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0007004 - telomere maintenance via telomerase |
| • GO:0016192 - vesicle-mediated transport | • GO:0031410 - cytoplasmic vesicle |
| • GO:0043169 - cation binding |
Pathways
• AKT signaling pathway
• Telomere maintenance
• Vesicular trafficking
Protein Summary
The AKTIP protein (also known as FT1) is a 269-amino acid protein that localizes to the cytoplasm and nucleus. It binds to AKT1 and modulates its activity, and is essential for proper cytokinesis and telomere elongation. The protein contains a zinc finger domain and is involved in the formation of endosomal vesicles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKTIP Knockout HEK293 Cell Line | EDJ-KQ12325 | Human | 64400 | Details Get a Quote |
| AKTIP Knockout A-549 Cell Line | EDJ-KQ41169 | Human | 64400 | Details Get a Quote |
| AKTIP Knockout HeLa Cell Line | EDJ-KQ41170 | Human | 64400 | Details Get a Quote |
| AKTIP Knockout HCT 116 Cell Line | EDJ-KQ39912 | Human | 64400 | Details Get a Quote |
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