2. Gene
  3. POT1 - protection of telomeres 1 Gene

POT1 - protection of telomeres 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GLM9; CMM10; HPOT1

Gene ID: 25913 | Gene type: protein coding

About POT1

Cytogenetic location: 7q31.33 Genomic coordinates (GRCh38): 7:124,822,386-124,929,825 (from NCBI)

This gene has 31 transcripts (splice variants), 211 orthologues and is associated with 86 phenotypes. Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.2) and 25 other tissues.

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]

POT1 Products(2)

mRNA Protein Name
NM_001042594.2 NP_001036059.1 protection of telomeres protein 1 isoform 4
NM_015450.3 NP_056265.2 protection of telomeres protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 8-hydroxy-2'-deoxyguanosine DNA binding IDA
IDA: Inferred from direct assay
19734539 GOA
enables DEAD/H-box RNA helicase binding IPI
IPI: Inferred from physical interaction
16030011 GOA
enables G-rich single-stranded DNA binding IDA
IDA: Inferred from direct assay
19734539 GOA
enables G-rich strand telomeric DNA binding IDA
IDA: Inferred from direct assay
17237768 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12768206 GOA
enables single-stranded telomeric DNA binding IDA
IDA: Inferred from direct assay
15632080 GOA
enables single-stranded telomeric DNA binding IMP
IMP: Inferred from mutant phenotype
12768206 GOA
enables telomerase inhibitor activity IDA
IDA: Inferred from direct assay
15632080 GOA
enables telomeric D-loop binding IDA
IDA: Inferred from direct assay
19734539 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
23685356 GOA
enables telomeric DNA binding IMP
IMP: Inferred from mutant phenotype
27013236 GOA
NOT enables telomeric G-quadruplex DNA binding IDA
IDA: Inferred from direct assay
19734539 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA duplex unwinding IDA
IDA: Inferred from direct assay
16030011 GOA
involved in establishment of protein localization to telomere IMP
IMP: Inferred from mutant phenotype
25589350 GOA
involved in negative regulation of telomere maintenance via telomerase IDA
IDA: Inferred from direct assay
15632080 GOA
involved in negative regulation of telomere maintenance via telomerase IGI
IGI: Inferred from genetic interaction
15181449 GOA
involved in positive regulation of DNA helicase activity IDA
IDA: Inferred from direct assay
19734539 GOA
involved in positive regulation of DNA strand elongation IDA
IDA: Inferred from direct assay
16043710 GOA
involved in positive regulation of helicase activity IDA
IDA: Inferred from direct assay
16030011 GOA
involved in positive regulation of telomere maintenance via telomerase IDA
IDA: Inferred from direct assay
17237768 GOA
involved in positive regulation of telomere maintenance via telomerase IMP
IMP: Inferred from mutant phenotype
12768206 GOA
involved in regulation of DNA helicase activity IDA
IDA: Inferred from direct assay
19734539 GOA
involved in regulation of double-strand break repair via nonhomologous end joining IDA
IDA: Inferred from direct assay
29227966 GOA
involved in regulation of telomere maintenance via telomerase IGI
IGI: Inferred from genetic interaction
26586433 GOA
involved in telomere assembly IDA
IDA: Inferred from direct assay
16043710 GOA
involved in telomere capping IDA
IDA: Inferred from direct assay
21852327 GOA
involved in telomere capping IGI
IGI: Inferred from genetic interaction
17632522 GOA
involved in telomere capping IMP
IMP: Inferred from mutant phenotype
15657433 GOA
involved in telomere maintenance via telomerase IDA
IDA: Inferred from direct assay
12768206 GOA
involved in telomere maintenance via telomerase IMP
IMP: Inferred from mutant phenotype
27013236 GOA
involved in telomeric D-loop disassembly IGI
IGI: Inferred from genetic interaction
22039056 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
12768206 GOA
part of nuclear telomere cap complex IDA
IDA: Inferred from direct assay
16880378 GOA
part of shelterin complex IDA
IDA: Inferred from direct assay
15383534 GOA
part of shelterin complex IMP
IMP: Inferred from mutant phenotype
21852327 GOA
part of shelterin complex IPI
IPI: Inferred from physical interaction
15383534 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POT1 Protein Structure

POT1

POT1: Telomeric single stranded DNA binding POT1/CDC13 (11 - 140)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 634 a.a.
Protein Preferred Names Protein Names

protection of telomeres protein 1

POT1-like telomere end-binding protein

POT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra POT1 Q9NUX5 CFL2 Homo sapiens Q549N0
Y2H Array
25416956
Intra POT1 Q9NUX5 CFL2 Homo sapiens Q549N0
Validated Y2H
25416956
Intra POT1 Q9NUX5 DOK2 Homo sapiens O60496
BiFC
21044950
Intra POT1 Q9NUX5 RPAP1 Homo sapiens Q9BWH6
BiFC
21044950
Intra POT1 Q9NUX5 SYAP1 Homo sapiens Q96A49
BiFC
21044950
Intra POT1 Q9NUX5 HSPA1A Homo sapiens P0DMV8
BiFC
21044950
Intra POT1 Q9NUX5 PAGE5 Homo sapiens Q96GU1
BiFC
21044950
Intra POT1 Q9NUX5 PYM1 Homo sapiens Q9BRP8
BiFC
21044950
Intra POT1 Q9NUX5 HMOX1 Homo sapiens P09601
BiFC
21044950
Intra POT1 Q9NUX5 PROSER2 Homo sapiens Q86WR7
BiFC
21044950
Intra POT1 Q9NUX5 MADD Homo sapiens Q8WXG6
BiFC
21044950
Intra POT1 Q9NUX5 CFL2 Homo sapiens Q9Y281
Validated Y2H
32296183
Intra POT1 Q9NUX5 ANXA2 Homo sapiens P07355
BiFC
21044950
Intra POT1 Q9NUX5 HLCS Homo sapiens P50747
BiFC
21044950
Intra POT1 Q9NUX5 GPA33 Homo sapiens Q99795
BiFC
21044950
Intra POT1 Q9NUX5 MAP4K2 Homo sapiens Q12851
BiFC
21044950
Intra POT1 Q9NUX5 GFPT2 Homo sapiens O94808
BiFC
21044950
Intra POT1 Q9NUX5 TERF2 Homo sapiens Q15554
Anti Tag CoIP
15383534
Intra POT1 Q9NUX5 TERF2 Homo sapiens Q15554
Anti Tag CoIP
35271311
Intra POT1 Q9NUX5 TERF2 Homo sapiens Q15554
Anti Tag CoIP
33961781
Intra POT1 Q9NUX5 TERF2 Homo sapiens Q15554
Anti Tag CoIP
26496610
Intra POT1 Q9NUX5 TERF2 Homo sapiens Q15554
Anti Tag CoIP
28514442
Intra POT1 Q9NUX5 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
35271311
Intra POT1 Q9NUX5 TINF2 Homo sapiens Q9BSI4
BiFC
21044950
Intra POT1 Q9NUX5 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
33961781
Intra POT1 Q9NUX5 ACD Homo sapiens Q96AP0
Y2H Pooling
16189514
Intra POT1 Q9NUX5 ACD Homo sapiens Q96AP0
Pull Down
21044950
Intra POT1 Q9NUX5 ACD Homo sapiens Q96AP0
BiFC
21044950
Intra POT1 Q9NUX5 ACD Homo sapiens Q96AP0
Y2H Array
31515488
Intra POT1 Q9NUX5 ACD Homo sapiens Q96AP0
Anti Tag CoIP
26496610
Intra POT1 Q9NUX5 WIPI2 Homo sapiens Q9Y4P8
BiFC
21044950
Intra POT1 Q9NUX5 ISYNA1 Homo sapiens Q9NPH2
BiFC
21044950
Intra POT1 Q9NUX5 PACSIN1 Homo sapiens Q9BY11
BiFC
21044950
Intra POT1 Q9NUX5 KIAA1191 Homo sapiens Q96A73
BiFC
21044950
Intra POT1 Q9NUX5 MVK Homo sapiens Q03426
BiFC
21044950
Intra POT1 Q9NUX5 PDE1B Homo sapiens Q01064
BiFC
21044950
Intra POT1 Q9NUX5 MAGEA4 Homo sapiens P43358
BiFC
21044950
Intra POT1 Q9NUX5 CNST Homo sapiens Q6PJW8
BiFC
21044950
Intra POT1 Q9NUX5 PHYKPL Homo sapiens Q8IUZ5
BiFC
21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Melanoma, Cutaneous Malignant 10

Melanoma, Cutaneous Malignant, Susceptibility To, 10

CMM10

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 10
Glioma Susceptibility 9

GLM9

Glioma 9

Glioma, Susceptibility To, Type 9
Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell
Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition
Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome
Anaplastic Oligodendroglioma
Oligodendroglioma

Oligodendroglial Neoplasm

Oligodendroglial Tumor

Oligodendroglial Tumors

Well Differentiated Oligodendroglioma
Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome
Heart Sarcoma

Cardiac Sarcoma

Sarcoma Of Heart
Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure

DKCA5

Dyskeratosis Congenita, Autosomal Dominant 5

Dyskeratosis Congenita With Bilateral Exudative Retinopathy

Retinopathy-Anemia-Central Nervous System Anomalies Syndrome

Revesz-Debuse Syndrome

Dyskeratosis Congenita, Autosomal Dominant, 5

Revesz Debuse Syndrome
Fanconi Anemia, Complementation Group J

Fanconi Anemia Complementation Group J

FANCJ
Gaucher Disease, Type Ii

GD2

Gd Ii

Gaucher Disease, Acute Neuronopathic Type

Gaucher Disease Type 2

Gaucher Disease Type Ii

Gaucher'S Disease Type Ii

Infantile Cerebral Gaucher Disease

Acute Neuronopathic Gaucher Disease

Gd 2

Gaucher Disease, Infantile Cerebral

Gaucher Disease 2

Type 2 Gaucher Disease

Gaucher Disease, Type 2
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10885 POT1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus POT1 VGNC VGNC:33172
Felis catus POT1 VGNC VGNC:64304
Rattus norvegicus POT1 RGD RGD:1562696
Canis familiaris POT1 VGNC VGNC:44823
Macaca mulatta POT1 VGNC VGNC:76046
Mus musculus POT1 MGD MGI:2141503