• Gene id: 7011

Gene Summary

• Gene Symbol: TEP1   Gene   UCSC   Ensembl
• Aliases: TLP1, TP1, TROVE1, VAULT2, p240
• Gene name: telomerase associated protein 1
• Alternate names: telomerase protein component 1, TROVE domain family, member 1, p80 telomerase homolog, telomerase protein 1,
• Gene location: 14q11.2 (20413539: 20365666)     Exons: 55     NC_000014.9
• Gene summary(Entrez): This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternati
• OMIM: 601686

SNPs

rs1713449

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.20373548C>T
NC_000014.8   g.20841707C>T
XM_005268027.5   c.6640G>A
XM_005268027.1   c.6640G>A
NM_007110.5   c.6640G>A
NM_007110.4   c.6640G>A
XR_245720.3   n.6666G>A
XR_245720.1   n.7298G>A
XM_011537110.2   c.5071G>A
XR_001750531.1   n.6828G>A
NM_0013190  

rs1713419

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.20366389A>G
NC_000014.8   g.20834548A>G
XM_005268027.5   c.*2048T>C
NM_007110.5   c.*2048T>C
NM_007110.4   c.*2048T>C
XR_245720.3   n.9958T>C
XM_011537110.2   c.*2048T>C
XR_001750531.1   n.9995T>C
NM_001319035.1   c.*2048T>C
NM_001319035.2   c.*2048T>C|S

Protein Summary

• Protein general information: Q99973  
  • Name: Telomerase protein component 1 (Telomerase associated protein 1) (Telomerase protein 1) (p240) (p80 telomerase homolog)
  • Length: 2627  
  • Mass: 290,490
• Sequence:

  MEKLHGHVSAHPDILSLENRCLAMLPDLQPLEKLHQHVSTHSDILSLKNQCLATLPDLKTMEKPHGYVSAHPDIL
  SLENQCLATLSDLKTMEKPHGHVSAHPDILSLENRCLATLSSLKSTVSASPLFQSLQISHMTQADLYRVNNSNCL
  LSEPPSWRAQHFSKGLDLSTCPIALKSISATETAQEATLGRWFDSEEKKGAETQMPSYSLSLGEEEEVEDLAVKL
  TSGDSESHPEPTDHVLQEKKMALLSLLCSTLVSEVNMNNTSDPTLAAIFEICRELALLEPEFILKASLYARQQLN
  VRNVANNILAIAAFLPACRPHLRRYFCAIVQLPSDWIQVAELYQSLAEGDKNKLVPLPACLRTAMTDKFAQFDEY
  QLAKYNPRKHRAKRHPRRPPRSPGMEPPFSHRCFPRYIGFLREEQRKFEKAGDTVSEKKNPPRFTLKKLVQRLHI
  HKPAQHVQALLGYRYPSNLQLFSRSRLPGPWDSSRAGKRMKLSRPETWERELSLRGNKASVWEELIENGKLPFMA
  MLRNLCNLLRVGISSRHHELILQRLQHAKSVIHSRQFPFRFLNAHDAIDALEAQLRNQALPFPSNITLMRRILTR
  NEKNRPRRRFLCHLSRQQLRMAMRIPVLYEQLKREKLRVHKARQWKYDGEMLNRYRQALETAVNLSVKHSLPLLP
  GRTVLVYLTDANADRLCPKSNPQGPPLNYALLLIGMMITRAEQVDVVLCGGDTLKTAVLKAEEGILKTAIKLQAQ
  VQEFDENDGWSLNTFGKYLLSLAGQRVPVDRVILLGQSMDDGMINVAKQLYWQRVNSKCLFVGILLRRVQYLSTD
  LNPNDVTLSGCTDAILKFIAEHGASHLLEHVGQMDKIFKIPPPPGKTGVQSLRPLEEDTPSPLAPVSQQGWRSIR
  LFISSTFRDMHGERDLLLRSVLPALQARAAPHRISLHGIDLRWGVTEEETRRNRQLEVCLGEVENAQLFVGILGS
  RYGYIPPSYNLPDHPHFHWAQQYPSGRSVTEMEVMQFLNRNQRLQPSAQALIYFRDSSFLSSVPDAWKSDFVSES
  EEAARRISELKSYLSRQKGITCRRYPCEWGGVAAGRPYVGGLEEFGQLVLQDVWNMIQKLYLQPGALLEQPVSIP
  DDDLVQATFQQLQKPPSPARPRLLQDTVQRLMLPHGRLSLVTGQSGQGKTAFLASLVSALQAPDGAKVASLVFFH
  FSGARPDQGLALTLLRRLCTYLRGQLKEPGALPSTYRSLVWELQQRLLPKSAESLHPGQTQVLIIDGADRLVDQN
  GQLISDWIPKKLPRCVHLVLSVSSDAGLGETLEQSQGAHVLALGPLEASARARLVREELALYGKRLEESPFNNQM
  RLLLVKRESGRPLYLRLVTDHLRLFTLYEQVSERLRTLPATVPLLLQHILSTLEKEHGPDVLPQALTALEVTRSG
  LTVDQLHGVLSVWRTLPKGTKSWEEAVAAGNSGDPYPMGPFACLVQSLRSLLGEGPLERPGARLCLPDGPLRTAA
  KRCYGKRPGLEDTAHILIAAQLWKTCDADASGTFRSCPPEALGDLPYHLLQSGNRGLLSKFLTNLHVVAAHLELG
  LVSRLLEAHALYASSVPKEEQKLPEADVAVFRTFLRQQASILSQYPRLLPQQAANQPLDSPLCHQASLLSRRWHL
  QHTLRWLNKPRTMKNQQSSSLSLAVSSSPTAVAFSTNGQRAAVGTANGTVYLLDLRTWQEEKSVVSGCDGISACL
  FLSDDTLFLTAFDGLLELWDLQHGCRVLQTKAHQYQITGCCLSPDCRLLATVCLGGCLKLWDTVRGQLAFQHTYP
  KSLNCVAFHPEGQVIATGSWAGSISFFQVDGLKVTKDLGAPGASIRTLAFNVPGGVVAVGRLDSMVELWAWREGA
  RLAAFPAHHGFVAAALFLHAGCQLLTAGEDGKVQVWSGSLGRPRGHLGSLSLSPALSVALSPDGDRVAVGYRADG
  IRIYKISSGSQGAQGQALDVAVSALAWLSPKVLVSGAEDGSLQGWALKECSLQSLWLLSRFQKPVLGLATSQELL
  ASASEDFTVQLWPRQLLTRPHKAEDFPCGTELRGHEGPVSCCSFSTDGGSLATGGRDRSLLCWDVRTPKTPVLIH
  SFPACHRDWVTGCAWTKDNLLISCSSDGSVGLWDPESGQRLGQFLGHQSAVSAVAAVEEHVVSVSRDGTLKVWDH
  QGVELTSIPAHSGPISHCAAAMEPRAAGQPGSELLVVTVGLDGATRLWHPLLVCQTHTLLGHSGPVRAAAVSETS
  GLMLTASEDGSVRLWQVPKEADDTCIPRSSAAVTAVAWAPDGSMAVSGNQAGELILWQEAKAVATAQAPGHIGAL
  IWSSAHTFFVLSADEKISEWQVKLRKGSAPGNLSLHLNRILQEDLGVLTSLDWAPDGHFLILAKADLKLLCMKPG
  DAPSEIWSSYTENPMILSTHKEYGIFVLQPKDPGVLSFLRQKESGEFEERLNFDINLENPSRTLISITQAKPESE
  SSFLCASSDGILWNLAKCSPEGEWTTGNMWQKKANTPETQTPGTDPSTCRESDASMDSDASMDSEPTPHLKTRQR
  RKIHSGSVTALHVLPELLVTASKDRDVKLWERPSMQLLGLFRCEGSVSCLEPWLGANSTLQLAVGDVQGNVYFLN
  WE

• Structural information:
  • Protein Domains: TROVE. (223-676)
    NACHT. (1162-1490)
  • Interpro: IPR025139  IPR007111  IPR027417  IPR008850  IPR008858   IPR037214  IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS50837 PS51226 PS50988 PS00678 PS50082 PS50294
  • STRING: ENSP00000262715
• Other Databases: GeneCards:  TEP1  Malacards:  TEP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000722	telomere maintenance via recombination	IDA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0002039	p53 binding	IPI	molecular function
GO:0003723	RNA binding	ISS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006278	RNA-dependent DNA biosynthetic process	IEA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0030529	intracellular ribonucleoprotein complex	TAS	cellular component
GO:0070034	telomerase RNA binding	ISS	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000722	telomere maintenance via recombination	IDA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0002039	p53 binding	IPI	molecular function
GO:0003720	telomerase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	ISS	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005697	telomerase holoenzyme complex	IEA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006278	RNA-dependent DNA biosynthetic process	IEA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0030529	intracellular ribonucleoprotein complex	IEA	cellular component
GO:0030529	intracellular ribonucleoprotein complex	TAS	cellular component
GO:0070034	telomerase RNA binding	IEA	molecular function
GO:0070034	telomerase RNA binding	ISS	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0000722	telomere maintenance via recombination	IDA	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0003723	RNA binding	ISS	molecular function
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0030529	intracellular ribonucleoprotein complex	TAS	cellular component
GO:0070034	telomerase RNA binding	ISS	molecular function
GO:0003720	telomerase activity	IDA	molecular function

Diseases

Associated diseases	References
Cancer (bladder)	GAD: 19692168
Cancer (lung)	GAD: 18676680
Cancer (breast)	GAD: 19766477
Cardiovascular disease	GAD: 20937264
Teratozoospermia	MIK: 18727729
Spermatogenesis defects	MIK: 10591614
Round spermatid maturation arrest	MIK: 10591614
Oligozoospermia	MIK: 18727729
Male factor infertility	MIK: 18727729
Asthenozoospermia	MIK: 18727729
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Round-spermatid maturation arrest	MIK: 10591614
Oligozoospermia	MIK: 18727729
Asthenozoospermia	MIK: 18727729
Teratozoospermia	MIK: 18727729
Male infertility	MIK: 18727729
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
10591614	Impaired spermatogenesis, round-spermatid maturation arrest			36 (20 men with normal spermatogenesis, 16 men with round spermatid maturation arrest)	Male infertility	CREM TP1
18727729	Oligozoospermia, asthenozoospermia, teratozoospermia, male infertility			60 male infertility	Male infertility	TP1 TP2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R