• Gene id: 64400

Gene Summary

• Gene Symbol: AKTIP   Gene   UCSC   Ensembl
• Aliases: FT1, FTS
• Gene name: AKT interacting protein
• Alternate names: AKT-interacting protein, fused toes homolog,
• Gene location: 16q12.2 (53504410: 53491039)     Exons: 11     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 608483

Protein Summary

• Protein general information: Q9H8T0  
  • Name: AKT interacting protein (Ft1) (Fused toes protein homolog)
  • Length: 292  
  • Mass: 33128
• Sequence:

  MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYL
  EYSLLAEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPL
  VDPTSGELDVKRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLF
  DQPKIEDPYAISFSPWNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT

• Structural information:
  • Interpro: IPR000608  IPR016135  
  • Prosite: PS50127
  • STRING: ENSP00000378152
• Other Databases: GeneCards:  AKTIP  Malacards:  AKTIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061631	ubiquitin conjugating enzyme activity	IBA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IBA	NOT|biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0070695	FHF complex	IDA	cellular component
GO:0030897	HOPS complex	IDA	colocalizes with
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0007040	lysosome organization	IMP	biological process
GO:0007032	endosome organization	IMP	biological process
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0019787	ubiquitin-like protein transferase activity	NAS	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray