POT1 - protection of telomeres 1 Gene

Also Known as GLM9; CMM10; HPOT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25913

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	References	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	References	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	References	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

0
100
200
300
400
500
600
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	References
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

POT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81945	POT1 Antibody (YA1690)	WB	Human
HY-P81945A	POT1 Antibody (YA1690)(PBS only)	WB	Human

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

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 Set	/	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
Others	POT1	NCBI