• Gene id: 54984

Gene Summary

• Gene Symbol: PINX1   Gene   UCSC   Ensembl
• Aliases: Gno1, LPTL, LPTS, Pxr1
• Gene name: PIN2 (TERF1) interacting telomerase inhibitor 1
• Alternate names: PIN2/TERF1-interacting telomerase inhibitor 1, 67-11-3 protein, PIN2-interacting protein 1, TRF1-interacting protein 1, hepatocellular carcinoma-related putative tumor suppressor, liver-related putative tumor suppressor, pin2-interacting protein X1, protein 67-1,
• Gene location: 8p23.1 (10839898: 10764960)     Exons: 7     NC_000008.11
• OMIM: 609104

Protein Summary

• Protein general information: Q96BK5  
  • Name: PIN2/TERF1 interacting telomerase inhibitor 1 (Liver related putative tumor suppressor) (Pin2 interacting protein X1) (Protein 67 11 3) (TRF1 interacting protein 1)
  • Length: 328  
  • Mass: 37035
  • Tissue specificity: Ubiquitous; expressed at low levels. Not detectable in a number of hepatocarcinoma cell lines.
• Sequence:

  MSMLAERRRKQKWAVDPQNTAWSNDDSKFGQRMLEKMGWSKGKGLGAQEQGATDHIKVQVKNNHLGLGATINNED
  NWIAHQDDFNQLLAELNTCHGQETTDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKDLSSRSKTDLDCIFGKR
  QSKKTPEGDASPSTPEENETTTTSAFTIQEYFAKRMAALKNKPQVPVPGSDISETQVERKRGKKRNKEATGKDVE
  SYLQPKAKRHTEGKPERAEAQERVAKKKSAPAEEQLRGPCWDQSSKASAQDAGDHVQPPEGRDFTLKPKKRRGKK
  KLQKPVEIAEDATLEETLVKKKKKKDSK

• Structural information:
  • Protein Domains: (26..7-)
    (/note="G-patch-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00092"-)
  • Interpro: IPR000467  
  • Prosite: PS50174
  • STRING: ENSP00000318966
• Other Databases: GeneCards:  PINX1  Malacards:  PINX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0005819	spindle	IDA	cellular component
GO:0051972	regulation of telomerase activity	TAS	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0010521	telomerase inhibitor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0000776	kinetochore	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0000781	chromosome, telomeric region	IDA	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010521	telomerase inhibitor activity	NAS	molecular function
GO:0031647	regulation of protein stability	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031397	negative regulation of protein ubiquitination	IMP	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0070198	protein localization to chromosome, telomeric region	IMP	biological process
GO:0010521	telomerase inhibitor activity	IDA	molecular function
GO:1902570	protein localization to nucleolus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:1904744	positive regulation of telomeric DNA binding	IDA	biological process
GO:1904751	positive regulation of protein localization to nucleolus	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0010521	telomerase inhibitor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010521	telomerase inhibitor activity	IMP	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0032211	negative regulation of telomere maintenance via telomerase	IDA	biological process
GO:0051974	negative regulation of telomerase activity	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0005730	nucleolus	NAS	cellular component
GO:1904357	negative regulation of telomere maintenance via telomere lengthening	NAS	biological process
GO:0051974	negative regulation of telomerase activity	NAS	biological process
GO:0051974	negative regulation of telomerase activity	IMP	biological process
GO:0051974	negative regulation of telomerase activity	IMP	biological process
GO:0032211	negative regulation of telomere maintenance via telomerase	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:1904744	positive regulation of telomeric DNA binding	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	IDA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0008285	negative regulation of cell population proliferation	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray