Gene Gene information from NCBI Gene database.
Entrez ID 64400
Gene name AKT interacting protein
Gene symbol AKTIP
Synonyms (NCBI Gene)
FT1FTS
Chromosome 16
Chromosome location 16q12.2
Summary The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered p
miRNA miRNA information provided by mirtarbase database.
337
miRTarBase ID miRNA Experiments Reference
MIRT040167 hsa-miR-615-3p CLASH 23622248
MIRT053408 hsa-miR-629-5p Microarray 23807165
MIRT441241 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT441239 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT441238 hsa-miR-541-5p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001934 Process Positive regulation of protein phosphorylation IDA 14749367
GO:0005515 Function Protein binding IPI 16189514, 18799622, 23414517, 25416956, 31515488, 32073997, 32296183, 33961781, 34882091
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IDA 14749367
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608483 16710 ENSG00000166971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H8T0
Protein name AKT-interacting protein (Ft1) (Fused toes protein homolog)
Protein function Component of the FTS/Hook/FHIP complex (FHF complex) (PubMed:32073997). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enha
PDB 8QAT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 78 217 Ubiquitin-conjugating enzyme Domain
Sequence
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAA
QSTNGTHASYGPFYLEYSLLAEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDG
VFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDVKRAFAKWRRNHNHIWQVLMY
ARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSV
KVCTARLFDQPKIEDPYAISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT
Sequence length 292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar disorder Pubtator 20132317 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36516775 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma in situ of uterine cervix Cervical Intraepithelial Neoplasia BEFREE 20945372
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 27765929 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 20945372, 27765929
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 20945372, 27765929
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 23028188 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 19410446
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 20945372, 27765929
★☆☆☆☆
Found in Text Mining only