TEN1 (TEN1 subunit of CST complex)

Gene

• Entrez ID: 100134934
• Gene name: TEN1 subunit of CST complex
• Gene symbol: TEN1
• Synonyms (NCBI Gene): C17orf106
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2395661	hsa-miR-4731-5p	CLIP-seq
MIRT2640629	hsa-miR-4317	CLIP-seq
MIRT2640630	hsa-miR-4663	CLIP-seq
MIRT2640631	hsa-miR-628-5p	CLIP-seq
MIRT2640629	hsa-miR-4317	CLIP-seq
MIRT2640630	hsa-miR-4663	CLIP-seq
MIRT2640631	hsa-miR-628-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	19854130
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19854130, 22763445, 28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	19854130
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0010521	Function	Telomerase inhibitor activity	IBA
GO:0016233	Process	Telomere capping	TAS	22763445
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IBA
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IDA	22763445
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	19854130
GO:1990879	Component	CST complex	IBA
GO:1990879	Component	CST complex	IDA	19854130, 22763445
GO:1990879	Component	CST complex	IEA
GO:1990879	Component	CST complex	ISS

Other IDs

• MIM: 613130
• HGNC: 37242
• e!Ensembl: ENSG00000257949

Protein

• UniProt ID: Q86WV5
• Protein name: CST complex subunit TEN1 (Protein telomeric pathways with STN1 homolog) (Telomere length regulation protein TEN1 homolog)
• Protein function: Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded
• PDB: 4JOI, 6W6W, 7U5C, 8D0B, 8D0K, 8SOJ, 8SOK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15490	Ten1_2	3 → 119	Telomere-capping, CST complex subunit	Domain

• Sequence:

  MMLPKPGTYYLPWEVSAGQVPDGSTLRTFGRLCLYDMIQSRVTLMAQHGSDQHQVLVCTK
  LVEPFHAQVGSLYIVLGELQHQQDRGSVVKARVLTCVEGMNLPLLEQAIREQRLYKQERG
  GSQ

• Sequence length: 123

Pathways

Reactome:

Telomere C-strand synthesis initiation

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Cerebroretinal Microangiopathy with Calcifications and Cysts	Associate	29481669	★☆☆☆☆ Found in Text Mining only