PINX1
PIN2/TERF1-interacting telomerase inhibitor 1
Also known as: FLJ20565, Gno1, LPTL, LPTS, MGC8850, PINX1_HUMAN, Pxr1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96BK5
- Gene
- PINX1
- Ensembl
- ENSG00000254093
- Chromosome
- 8
- Canonical length
- 328 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Mitochondria
OverviewNCBI Gene
Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2025]
Canonical amino-acid sequenceUniProt
328 residues, UniProt reviewed canonical sequence.
>Q96BK5|PINX1
1 MSMLAERRRK QKWAVDPQNT AWSNDDSKFG QRMLEKMGWS KGKGLGAQEQ GATDHIKVQV
61 KNNHLGLGAT INNEDNWIAH QDDFNQLLAE LNTCHGQETT DSSDKKEKKS FSLEEKSKIS
121 KNRVHYMKFT KGKDLSSRSK TDLDCIFGKR QSKKTPEGDA SPSTPEENET TTTSAFTIQE
181 YFAKRMAALK NKPQVPVPGS DISETQVERK RGKKRNKEAT GKDVESYLQP KAKRHTEGKP
241 ERAEAQERVA KKKSAPAEEQ LRGPCWDQSS KASAQDAGDH VQPPEGRDFT LKPKKRRGKK
301 KLQKPVEIAE DATLEETLVK KKKKKDSKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PINX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.64
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- skin: 14 nTPM
- skeletal muscle: 13 nTPM
- thymus: 12 nTPM
- esophagus: 12 nTPM
- liver: 11 nTPM
- retina: 11 nTPM
Single-cell type
- late spermatids: 29 nCPM
- early spermatids: 22 nCPM
- late primary spermatocytes: 20 nCPM
- syncytiotrophoblasts: 6.5 nCPM
- basal keratinocytes: 6 nCPM
- differentiating spermatogonia: 6 nCPM
Immune cell
- MAIT T-cell: 19 nTPM
- naive CD4 T-cell: 17 nTPM
- T-reg: 16 nTPM
- memory CD8 T-cell: 16 nTPM
- gdT-cell: 15 nTPM
- naive CD8 T-cell: 14 nTPM
Brain region
- cerebellum: 12 nTPM
- cerebral cortex: 12 nTPM
- basal ganglia: 11 nTPM
- white matter: 9.2 nTPM
- thalamus: 9.1 nTPM
- pons: 8.9 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.76
- gnomAD pLI
- 0
- gnomAD missense Z
- -2.59
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mitotic metaphase chromosome alignment
- negative regulation of cell population proliferation
- negative regulation of G2/M transition of mitotic cell cycle
- negative regulation of protein ubiquitination
- negative regulation of telomere maintenance via telomerase
- negative regulation of telomere maintenance via telomere lengthening
- positive regulation of protein localization to nucleolus
- protein localization to chromosome, telomeric region
- protein localization to nucleolus
- regulation of protein stability
- telomere maintenance via telomerase
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PINX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PINX1 as an antibody target. Whether an autoantibody or antibody against PINX1 could matter depends on whether native PINX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PINX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PINX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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