Tissue expression of POT1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	POT1
Gene description	Protection of telomeres 1
Protein class	Cancer-related genes Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	POT1 (HGNC Symbol)
Synonyms	DKFZp586D211, hPot1
Description	Protection of telomeres 1 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	7
Cytoband	q31.33
Chromosome location (bp)	124822386 - 124929983
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000128513 (version 83.38)
Entrez gene	25913
UniProt	Q9NUX5 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NUX5
Antibodypedia	POT1 antibodies

PROTEIN BROWSER

POT1-001	POT1-003	POT1-008	POT1-010	POT1-013	POT1-014	POT1-016	POT1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
POT1-001 ENSP00000350249 ENST00000357628	Q9NUX5 [Direct mapping] Protection of telomeres protein 1 A0A024R739 [Target identity:100%; Query identity:100%] POT1 protection of telomeres 1 homolog (S. pombe), isoform CRA_b Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0000781 [chromosome, telomeric region] GO:0000783 [nuclear telomere cap complex] GO:0000784 [nuclear chromosome, telomeric region] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0007004 [telomere maintenance via telomerase] GO:0010521 [telomerase inhibitor activity] GO:0016233 [telomere capping] GO:0017151 [DEAD/H-box RNA helicase binding] GO:0032202 [telomere assembly] GO:0032211 [negative regulation of telomere maintenance via telomerase] GO:0032212 [positive regulation of telomere maintenance via telomerase] GO:0032508 [DNA duplex unwinding] GO:0043047 [single-stranded telomeric DNA binding] GO:0051096 [positive regulation of helicase activity] GO:0051973 [positive regulation of telomerase activity] GO:0051974 [negative regulation of telomerase activity] GO:0060383 [positive regulation of DNA strand elongation] GO:0070187 [telosome] GO:0098505 [G-rich strand telomeric DNA binding] Show all	634 aa 71.4 kDa	No	0
POT1-003 ENSP00000388921 ENST00000446993	C9JPG9 [Direct mapping] Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0000784 [nuclear chromosome, telomeric region] GO:0003677 [DNA binding] GO:0043047 [single-stranded telomeric DNA binding] Show all	82 aa 9.2 kDa	No	0
POT1-008 ENSP00000416820 ENST00000436534	H7C4C7 [Direct mapping] Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0043047 [single-stranded telomeric DNA binding] Show all	138 aa 15.4 kDa	No	0
POT1-010 ENSP00000476290 ENST00000487564	V9GY10 [Direct mapping] Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0043047 [single-stranded telomeric DNA binding] Show all	77 aa 9 kDa	No	0
POT1-013 ENSP00000477258 ENST00000609702	V9GZ00 [Direct mapping] Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0000784 [nuclear chromosome, telomeric region] GO:0003677 [DNA binding] GO:0043047 [single-stranded telomeric DNA binding] Show all	73 aa 8.1 kDa	No	0
POT1-014 ENSP00000476673 ENST00000610141	V9GYE6 [Direct mapping] Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0043047 [single-stranded telomeric DNA binding] Show all	119 aa 13.3 kDa	No	0
POT1-016 ENSP00000477320 ENST00000608200	V9GZ21 [Direct mapping] Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0043047 [single-stranded telomeric DNA binding] Show all	86 aa 9.7 kDa	No	0
POT1-201 ENSP00000377002 ENST00000393329	A8MTK3 [Direct mapping] POT1 protection of telomeres 1 homolog (S. pombe), isoform CRA_a; Protection of telomeres protein 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000723 [telomere maintenance] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0043047 [single-stranded telomeric DNA binding] Show all	503 aa 56.8 kDa	No	0