POT1 - protection of telomeres 1 Gene

中文名称：保护端粒 1

种属: Homo sapiens

同用名: GLM9; CMM10; HPOT1

基因 ID: 25913 | 基因类型: protein coding

关于 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.

功能概要

该基因是 telombin 家族的一员，编码参与端粒维持的核蛋白。具体而言，该蛋白质作为多蛋白复合物的成员发挥作用，该复合物与端粒的 TTAGGG 重复序列结合，调节端粒长度并保护染色体末端免受非法重组、灾难性染色体不稳定和异常染色体分离的影响。该基因的转录表达增加与胃癌发生及其进展有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 8-hydroxy-2'-deoxyguanosine DNA binding	IDA IDA: 通过直接分析推断	19734539	GOA
enables DEAD/H-box RNA helicase binding	IPI IPI: 通过物理相互作用推断	16030011	GOA
enables G-rich single-stranded DNA binding	IDA IDA: 通过直接分析推断	19734539	GOA
enables G-rich strand telomeric DNA binding	IDA IDA: 通过直接分析推断	17237768	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12768206	GOA
enables single-stranded telomeric DNA binding	IDA IDA: 通过直接分析推断	15632080	GOA
enables single-stranded telomeric DNA binding	IMP IMP: 通过突变表型推断	12768206	GOA
enables telomerase inhibitor activity	IDA IDA: 通过直接分析推断	15632080	GOA
enables telomeric D-loop binding	IDA IDA: 通过直接分析推断	19734539	GOA
enables telomeric DNA binding	IDA IDA: 通过直接分析推断	23685356	GOA
enables telomeric DNA binding	IMP IMP: 通过突变表型推断	27013236	GOA
NOT enables telomeric G-quadruplex DNA binding	IDA IDA: 通过直接分析推断	19734539	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA duplex unwinding	IDA IDA: 通过直接分析推断	16030011	GOA
involved in establishment of protein localization to telomere	IMP IMP: 通过突变表型推断	25589350	GOA
involved in negative regulation of telomere maintenance via telomerase	IDA IDA: 通过直接分析推断	15632080	GOA
involved in negative regulation of telomere maintenance via telomerase	IGI IGI: 通过遗传相互作用推断	15181449	GOA
involved in positive regulation of DNA helicase activity	IDA IDA: 通过直接分析推断	19734539	GOA
involved in positive regulation of DNA strand elongation	IDA IDA: 通过直接分析推断	16043710	GOA
involved in positive regulation of helicase activity	IDA IDA: 通过直接分析推断	16030011	GOA
involved in positive regulation of telomere maintenance via telomerase	IDA IDA: 通过直接分析推断	17237768	GOA
involved in positive regulation of telomere maintenance via telomerase	IMP IMP: 通过突变表型推断	12768206	GOA
involved in regulation of DNA helicase activity	IDA IDA: 通过直接分析推断	19734539	GOA
involved in regulation of double-strand break repair via nonhomologous end joining	IDA IDA: 通过直接分析推断	29227966	GOA
involved in regulation of telomere maintenance via telomerase	IGI IGI: 通过遗传相互作用推断	26586433	GOA
involved in telomere assembly	IDA IDA: 通过直接分析推断	16043710	GOA
involved in telomere capping	IDA IDA: 通过直接分析推断	21852327	GOA
involved in telomere capping	IGI IGI: 通过遗传相互作用推断	17632522	GOA
involved in telomere capping	IMP IMP: 通过突变表型推断	15657433	GOA
involved in telomere maintenance via telomerase	IDA IDA: 通过直接分析推断	12768206	GOA
involved in telomere maintenance via telomerase	IMP IMP: 通过突变表型推断	27013236	GOA
involved in telomeric D-loop disassembly	IGI IGI: 通过遗传相互作用推断	22039056	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromosome, telomeric region	IDA IDA: 通过直接分析推断	12768206	GOA
part of nuclear telomere cap complex	IDA IDA: 通过直接分析推断	16880378	GOA
part of shelterin complex	IDA IDA: 通过直接分析推断	15383534	GOA
part of shelterin complex	IMP IMP: 通过突变表型推断	21852327	GOA
part of shelterin complex	IPI IPI: 通过物理相互作用推断	15383534	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

POT1 蛋白结构

POT1

0
100
200
300
400
500
634 a.a.

蛋白主名

其他名称

protection of telomeres protein 1

POT1-like telomere end-binding protein

POT1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	POT1	Q9NUX5	CFL2	Homo sapiens	Q549N0	Y2H Array	25416956
种属内	POT1	Q9NUX5	CFL2	Homo sapiens	Q549N0	Validated Y2H	25416956
种属内	POT1	Q9NUX5	DOK2	Homo sapiens	O60496	BiFC	21044950
种属内	POT1	Q9NUX5	RPAP1	Homo sapiens	Q9BWH6	BiFC	21044950
种属内	POT1	Q9NUX5	SYAP1	Homo sapiens	Q96A49	BiFC	21044950
种属内	POT1	Q9NUX5	HSPA1A	Homo sapiens	P0DMV8	BiFC	21044950
种属内	POT1	Q9NUX5	PAGE5	Homo sapiens	Q96GU1	BiFC	21044950
种属内	POT1	Q9NUX5	PYM1	Homo sapiens	Q9BRP8	BiFC	21044950
种属内	POT1	Q9NUX5	HMOX1	Homo sapiens	P09601	BiFC	21044950
种属内	POT1	Q9NUX5	PROSER2	Homo sapiens	Q86WR7	BiFC	21044950
种属内	POT1	Q9NUX5	MADD	Homo sapiens	Q8WXG6	BiFC	21044950
种属内	POT1	Q9NUX5	CFL2	Homo sapiens	Q9Y281	Validated Y2H	32296183
种属内	POT1	Q9NUX5	ANXA2	Homo sapiens	P07355	BiFC	21044950
种属内	POT1	Q9NUX5	HLCS	Homo sapiens	P50747	BiFC	21044950
种属内	POT1	Q9NUX5	GPA33	Homo sapiens	Q99795	BiFC	21044950
种属内	POT1	Q9NUX5	MAP4K2	Homo sapiens	Q12851	BiFC	21044950
种属内	POT1	Q9NUX5	GFPT2	Homo sapiens	O94808	BiFC	21044950
种属内	POT1	Q9NUX5	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	15383534
种属内	POT1	Q9NUX5	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	35271311
种属内	POT1	Q9NUX5	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	33961781
种属内	POT1	Q9NUX5	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	26496610
种属内	POT1	Q9NUX5	TERF2	Homo sapiens	Q15554	Anti Tag CoIP	28514442
种属内	POT1	Q9NUX5	TINF2	Homo sapiens	Q9BSI4	Anti Tag CoIP	35271311
种属内	POT1	Q9NUX5	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950
种属内	POT1	Q9NUX5	TINF2	Homo sapiens	Q9BSI4	Anti Tag CoIP	33961781
种属内	POT1	Q9NUX5	ACD	Homo sapiens	Q96AP0	Y2H Pooling	16189514
种属内	POT1	Q9NUX5	ACD	Homo sapiens	Q96AP0	Pull Down	21044950
种属内	POT1	Q9NUX5	ACD	Homo sapiens	Q96AP0	BiFC	21044950
种属内	POT1	Q9NUX5	ACD	Homo sapiens	Q96AP0	Y2H Array	31515488
种属内	POT1	Q9NUX5	ACD	Homo sapiens	Q96AP0	Anti Tag CoIP	26496610
种属内	POT1	Q9NUX5	WIPI2	Homo sapiens	Q9Y4P8	BiFC	21044950
种属内	POT1	Q9NUX5	ISYNA1	Homo sapiens	Q9NPH2	BiFC	21044950
种属内	POT1	Q9NUX5	PACSIN1	Homo sapiens	Q9BY11	BiFC	21044950
种属内	POT1	Q9NUX5	KIAA1191	Homo sapiens	Q96A73	BiFC	21044950
种属内	POT1	Q9NUX5	MVK	Homo sapiens	Q03426	BiFC	21044950
种属内	POT1	Q9NUX5	PDE1B	Homo sapiens	Q01064	BiFC	21044950
种属内	POT1	Q9NUX5	MAGEA4	Homo sapiens	P43358	BiFC	21044950
种属内	POT1	Q9NUX5	CNST	Homo sapiens	Q6PJW8	BiFC	21044950
种属内	POT1	Q9NUX5	PHYKPL	Homo sapiens	Q8IUZ5	BiFC	21044950

种属间: 跨种属相互作用 种属内: 同种属相互作用

POT1 抗体

目录号	产品名	应用	反应物种
HY-P81945	POT1 Antibody (YA1690)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10885	POT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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