• Gene id: 9675

Gene Summary

• Gene Symbol: TTI1   Gene   UCSC   Ensembl
• Aliases: KIAA0406, smg-10
• Gene name: TELO2 interacting protein 1
• Alternate names: TELO2-interacting protein 1 homolog, TEL2-interacting protein 1 homolog, Tel two interacting protein 1, smg-10 homolog, nonsense mediated mRNA decay factor,
• Gene location: 20q11.23 (38033460: 37983013)     Exons: 5     NC_000020.11
• OMIM: 614425

Protein Summary

• Protein general information: O43156  
  • Name: TELO2 interacting protein 1 homolog (Protein SMG10)
  • Length: 1089  
  • Mass: 122069
  • Tissue specificity: Widely expressed.
• Sequence:

  MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTLKTPGPKRERLIQSVV
  ECLTFVLSSTCVKEQELLQELFSELSACLYSPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPR
  LGFAVSLLLGLAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALTRLITGDF
  KQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSV
  HPHWKVRLELVELVEDLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILS
  ESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLNSVAHLQRLSKALIQVLELDVADIKIVEERR
  WNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMI
  LNELVTGAAGLEVEDLHEKHIKTNPEELREIVTSILEEYTSQENWYLVTCLETEEMGEELMMEHPGLQAITSGEH
  TCQVTSFLAFSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKAGDQTLLISQVATSTM
  MDVCRACGYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLEVMLRNSDANLLPLVADVVQDVLATLDQFYD
  KRAASFVSVLHALMAALAQWFPDTGNLGHLQEQSLGEEGSHLNQRPAALEKSTTTAEDIEQFLLNYLKEKDVADG
  NVSDFDNEEEEQSVPPKVDENDTRPDVEPPLPLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHK
  NQLLPLAHQAWPSLVHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSLVTQAPISARAGPVYS
  HTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQPVKLQEAARSVFLHLMKVDPDSTWFLLNELY
  CPVQFTPPHPSLHPVQLHGASGQQNPYTTNVLQLLKELQ

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR016441  
  • DIP: 50660
  • STRING: ENSP00000362547
• Other Databases: GeneCards:  TTI1  Malacards:  TTI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070209	ASTRA complex	IBA	cellular component
GO:0031931	TORC1 complex	IBA	cellular component
GO:0032006	regulation of TOR signaling	IBA	biological process
GO:0031932	TORC2 complex	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0031931	TORC1 complex	IDA	cellular component
GO:0031932	TORC2 complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032006	regulation of TOR signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
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:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881