Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	9675
Gene name	TELO2 interacting protein 1
Gene symbol	TTI1
Synonyms (NCBI Gene)	KIAA0406NEDMIMsmg-10
Chromosome	20
Chromosome location	20q11.23

SNP ID	Visualize variation	Clinical significance	Consequence
rs375131638	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027488	hsa-miR-98-5p	Microarray	19088304
MIRT439377	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439377	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1462118	hsa-miR-1468	CLIP-seq
MIRT1462119	hsa-miR-331-5p	CLIP-seq
MIRT1462120	hsa-miR-4528	CLIP-seq
MIRT1462121	hsa-miR-4709-3p	CLIP-seq
MIRT1462122	hsa-miR-4711-3p	CLIP-seq
MIRT1462123	hsa-miR-4772-5p	CLIP-seq
MIRT1462124	hsa-miR-511	CLIP-seq
MIRT2138880	hsa-miR-340	CLIP-seq
MIRT2462627	hsa-miR-1275	CLIP-seq
MIRT2462628	hsa-miR-4447	CLIP-seq
MIRT2462629	hsa-miR-4472	CLIP-seq
MIRT2462630	hsa-miR-4525	CLIP-seq
MIRT2462631	hsa-miR-4665-5p	CLIP-seq
MIRT2462632	hsa-miR-4723-5p	CLIP-seq
MIRT2462633	hsa-miR-4757-5p	CLIP-seq
MIRT2462634	hsa-miR-541	CLIP-seq
MIRT2462635	hsa-miR-625	CLIP-seq
MIRT2462636	hsa-miR-654-5p	CLIP-seq
MIRT2462637	hsa-miR-939	CLIP-seq
MIRT2653025	hsa-miR-1273f	CLIP-seq
MIRT2653026	hsa-miR-1294	CLIP-seq
MIRT2653027	hsa-miR-147	CLIP-seq
MIRT2653028	hsa-miR-149	CLIP-seq
MIRT2653029	hsa-miR-3064-5p	CLIP-seq
MIRT2653030	hsa-miR-3126-5p	CLIP-seq
MIRT2653031	hsa-miR-34a	CLIP-seq
MIRT2653032	hsa-miR-34c-5p	CLIP-seq
MIRT2653033	hsa-miR-3652	CLIP-seq
MIRT2653034	hsa-miR-3911	CLIP-seq
MIRT2653035	hsa-miR-3976	CLIP-seq
MIRT2653036	hsa-miR-4283	CLIP-seq
MIRT2653037	hsa-miR-4300	CLIP-seq
MIRT2653038	hsa-miR-4316	CLIP-seq
MIRT2653039	hsa-miR-4419a	CLIP-seq
MIRT2653040	hsa-miR-4430	CLIP-seq
MIRT2653041	hsa-miR-4487	CLIP-seq
MIRT2653042	hsa-miR-4489	CLIP-seq
MIRT2653043	hsa-miR-449a	CLIP-seq
MIRT2653044	hsa-miR-449b	CLIP-seq
MIRT2653045	hsa-miR-4505	CLIP-seq
MIRT2653046	hsa-miR-4510	CLIP-seq
MIRT2653047	hsa-miR-4651	CLIP-seq
MIRT2653048	hsa-miR-4677-3p	CLIP-seq
MIRT2653049	hsa-miR-4690-3p	CLIP-seq
MIRT2653050	hsa-miR-4715-3p	CLIP-seq
MIRT2653051	hsa-miR-4728-5p	CLIP-seq
MIRT2653052	hsa-miR-4731-5p	CLIP-seq
MIRT2653053	hsa-miR-4743	CLIP-seq
MIRT2462633	hsa-miR-4757-5p	CLIP-seq
MIRT2653054	hsa-miR-4794	CLIP-seq
MIRT2462634	hsa-miR-541	CLIP-seq
MIRT2653055	hsa-miR-581	CLIP-seq
MIRT2653056	hsa-miR-608	CLIP-seq
MIRT2653057	hsa-miR-615-5p	CLIP-seq
MIRT2653058	hsa-miR-638	CLIP-seq
MIRT2653059	hsa-miR-644	CLIP-seq
MIRT2462636	hsa-miR-654-5p	CLIP-seq
MIRT2653060	hsa-miR-663b	CLIP-seq
MIRT2653061	hsa-miR-920	CLIP-seq
MIRT2653025	hsa-miR-1273f	CLIP-seq
MIRT2653026	hsa-miR-1294	CLIP-seq
MIRT2653027	hsa-miR-147	CLIP-seq
MIRT2653028	hsa-miR-149	CLIP-seq
MIRT2653029	hsa-miR-3064-5p	CLIP-seq
MIRT2653030	hsa-miR-3126-5p	CLIP-seq
MIRT2653031	hsa-miR-34a	CLIP-seq
MIRT2653032	hsa-miR-34c-5p	CLIP-seq
MIRT2653033	hsa-miR-3652	CLIP-seq
MIRT2653034	hsa-miR-3911	CLIP-seq
MIRT2653035	hsa-miR-3976	CLIP-seq
MIRT2653036	hsa-miR-4283	CLIP-seq
MIRT2653037	hsa-miR-4300	CLIP-seq
MIRT2653038	hsa-miR-4316	CLIP-seq
MIRT2653039	hsa-miR-4419a	CLIP-seq
MIRT2653040	hsa-miR-4430	CLIP-seq
MIRT2653041	hsa-miR-4487	CLIP-seq
MIRT2653042	hsa-miR-4489	CLIP-seq
MIRT2653043	hsa-miR-449a	CLIP-seq
MIRT2653044	hsa-miR-449b	CLIP-seq
MIRT2653045	hsa-miR-4505	CLIP-seq
MIRT2653046	hsa-miR-4510	CLIP-seq
MIRT2653047	hsa-miR-4651	CLIP-seq
MIRT2653048	hsa-miR-4677-3p	CLIP-seq
MIRT2653049	hsa-miR-4690-3p	CLIP-seq
MIRT2653050	hsa-miR-4715-3p	CLIP-seq
MIRT2653051	hsa-miR-4728-5p	CLIP-seq
MIRT2653052	hsa-miR-4731-5p	CLIP-seq
MIRT2653053	hsa-miR-4743	CLIP-seq
MIRT2653054	hsa-miR-4794	CLIP-seq
MIRT2653055	hsa-miR-581	CLIP-seq
MIRT2653056	hsa-miR-608	CLIP-seq
MIRT2653057	hsa-miR-615-5p	CLIP-seq
MIRT2653058	hsa-miR-638	CLIP-seq
MIRT2653059	hsa-miR-644	CLIP-seq
MIRT2653060	hsa-miR-663b	CLIP-seq
MIRT2653061	hsa-miR-920	CLIP-seq

14 Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20371770, 20801936, 20810650, 23263282
GO:0005634	Component	Nucleus	NAS	20810650
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23263282
GO:0005737	Component	Cytoplasm	IEA
GO:0031931	Component	TORC1 complex	IDA	23263282
GO:0031931	Component	TORC1 complex	IMP	36724785
GO:0031932	Component	TORC2 complex	IDA	23263282
GO:0031932	Component	TORC2 complex	IMP	36724785
GO:0032006	Process	Regulation of TOR signaling	IMP	23263282
GO:0050821	Process	Protein stabilization	NAS	20810650
GO:0110078	Component	TTT Hsp90 cochaperone complex	IPI	20810650
GO:2000003	Process	Positive regulation of DNA damage checkpoint	IMP	36724785
GO:2000003	Process	Positive regulation of DNA damage checkpoint	NAS	20810650

MIM	HGNC	e!Ensembl
614425	29029	ENSG00000101407

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	O43156
Protein name	TELO2-interacting protein 1 homolog (Protein SMG10)
Protein function	Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resi
PDB	7F4U , 7OLE
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Widely expressed.
Sequence	MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTL KTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLYSPSSQKPAAVSEELK LAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQV LLLQCDCQDHPRSLDELEQKQLGDLFASFLPGISTALTRLITGDFKQGHSIVVSSLKIFY KTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSV HPHWKVRLELVELVEDLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFAD QKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLN SVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFT DERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMILNELVTGAAGLEVED LHEKHIKTNPEELREIVTSILEEYTSQENWYLVTCLETEEMGEELMMEHPGLQAITSGEH TCQVTSFLAFSKPSPTICSMNSNIWQICIQLEGIGQFAYALGKDFCLLLMSALYPVLEKA GDQTLLISQVATSTMMDVCRACGYDSLQHLINQNSDYLVNGISLNLRHLALHPHTPKVLE VMLRNSDANLLPLVADVVQDVLATLDQFYDKRAASFVSVLHALMAALAQWFPDTGNLGHL QEQSLGEEGSHLNQRPAALEKSTTTAEDIEQFLLNYLKEKDVADGNVSDFDNEEEEQSVP PKVDENDTRPDVEPPLPLQIQIAMDVMERCIHLLSDKNLQIRLKVLDVLDLCVVVLQSHK NQLLPLAHQAWPSLVHRLTRDAPLAVLRAFKVLRTLGSKCGDFLRSRFCKDVLPKLAGSL VTQAPISARAGPVYSHTLAFKLQLAVLQGLGPLCERLDLGEGDLNKVADACLIYLSVKQP VKLQEAARSVFLHLMKVDPDSTWFLLNELYCPVQFTPPHPSLHPVQLHGASGQQNPYTTN VLQLLKELQ
Sequence length	1089
Interactions	View interactions

KEGG Pathway
mTOR signaling pathway

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs375131638	RCV000454248	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with microcephaly and movement abnormalities	Pathogenic; Likely pathogenic	rs997493451, rs1568621484, rs2515418088, rs2515462014, rs375131638	RCV003315473 RCV003315474 RCV003315476 RCV003493387 RCV003315426	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Pathogenic; Likely pathogenic	rs2515417949, rs760000075	RCV003223483 RCV003223484	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38501918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	21552543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36724785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36724785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	36724785	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	23263282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35120576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TTI1 (TELO2 interacting protein 1)

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