POT1

Protein identityUniProt · HPA

UniProt accession

Q9NUX5

Gene

POT1

Ensembl

ENSG00000128513

Chromosome

7

Canonical length

634 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

634 residues, UniProt reviewed canonical sequence.

>Q9NUX5|POT1
     1  MSLVPATNYI YTPLNQLKGG TIVNVYGVVK FFKPPYLSKG TDYCSVVTIV DQTNVKLTCL
    61  LFSGNYEALP IIYKNGDIVR FHRLKIQVYK KETQGITSSG FASLTFEGTL GAPIIPRTSS
   121  KYFNFTTEDH KMVEALRVWA STHMSPSWTL LKLCDVQPMQ YFDLTCQLLG KAEVDGASFL
   181  LKVWDGTRTP FPSWRVLIQD LVLEGDLSHI HRLQNLTIDI LVYDNHVHVA RSLKVGSFLR
   241  IYSLHTKLQS MNSENQTMLS LEFHLHGGTS YGRGIRVLPE SNSDVDQLKK DLESANLTAN
   301  QHSDVICQSE PDDSFPSSGS VSLYEVERCQ QLSATILTDH QYLERTPLCA ILKQKAPQQY
   361  RIRAKLRSYK PRRLFQSVKL HCPKCHLLQE VPHEGDLDII FQDGATKTPD VKLQNTSLYD
   421  SKIWTTKNQK GRKVAVHFVK NNGILPLSNE CLLLIEGGTL SEICKLSNKF NSVIPVRSGH
   481  EDLELLDLSA PFLIQGTIHH YGCKQCSSLR SIQNLNSLVD KTSWIPSSVA EALGIVPLQY
   541  VFVMTFTLDD GTGVLEAYLM DSDKFFQIPA SEVLMDDDLQ KSVDMIMDMF CPPGIKIDAY
   601  PWLECFIKSY NVTNGTDNQI CYQIFDTTVA EDVI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POT1 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)

0.29

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POT1.

Disease | AllUniProt

Conditions POT1 is implicated in, by any mechanism.

• Tumor predisposition syndrome 3 (TPDS3) MIM:615848
• Cerebroretinal microangiopathy with calcifications and cysts 3 (CRMCC3) MIM:620368
• Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8 (PFBMFT8) MIM:620367

Disease | GeneticClinVar

213 pathogenic / likely-pathogenic of 2,571 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Tumor predisposition syndrome 3
• Hereditary cancer-predisposing syndrome
• Long telomere syndrome
• Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
• Cerebroretinal microangiopathy with calcifications and cysts 3

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)

0.36

gnomAD pLI

0.85

gnomAD missense Z

1.92

DepMap mean gene effect

-0.43

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• establishment of protein localization to telomere
• negative regulation of telomere maintenance via telomerase
• positive regulation of telomere maintenance
• positive regulation of telomere maintenance via telomerase
• regulation of double-strand break repair via nonhomologous end joining
• regulation of telomere maintenance via telomerase
• telomere assembly
• telomere capping
• telomere maintenance via telomerase
• telomeric D-loop disassembly
• positive regulation of DNA strand elongation
• positive regulation of telomeric D-loop disassembly

Molecular functions

• 8-hydroxy-2'-deoxyguanosine DNA binding
• DEAD/H-box RNA helicase binding
• G-rich strand telomeric DNA binding
• single-stranded telomeric DNA binding
• telomerase inhibitor activity
• telomeric D-loop binding
• telomeric DNA binding
• G-rich single-stranded DNA binding

Cellular components

• chromosome, telomeric region
• nuclear telomere cap complex
• nucleoplasm
• shelterin complex

Protein domainsUniProt · Pfam · InterPro

• Nucleic acid-binding, OB-fold
• Telomeric single stranded DNA binding POT1/Cdc13
• Protection of telomeres protein 1
• Protection of telomeres protein 1, ssDNA-binding domain
• Protection of telomeres protein 1, C-terminal insertion domain
• Telomeric single stranded DNA binding POT1/CDC13
• ssDNA-binding domain of telomere protection protein
• Protection of telomeres protein 1 (POT1), C-terminal insertion domain

KeywordsUniProt

• Chromosome
• DNA-binding
• Nucleus
• Telomere

InteractionsUniProt · HPA

Protein binding partners of POT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TNKS1
• STN1
• CTC1
• ACD
• TERF2
• TERF2IP
• TINF2