1. Gene
  2. TERF1 - telomeric repeat binding factor 1 Gene

TERF1 - telomeric repeat binding factor 1 Gene

中文名称:端粒重复结合因子 1

种属: Homo sapiens

同用名: TRF; PIN2; TRF1; TRBF1; t-TRF1; hTRF1-AS

基因 ID: 7013 | 基因类型: protein coding

关于 TERF1

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:73,008,864-73,048,123 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 11.2), ovary (RPKM 9.8) and 25 other tissues.

功能概要

该基因编码一种端粒特异性蛋白,它是端粒核蛋白复合物的一个组成部分。这种蛋白质在整个细胞周期中都存在于端粒上,并作为端粒酶抑制剂发挥作用,顺式作用以限制单个染色体末端的延长。该蛋白质结构包含一个 C 端 Myb 基序、一个靠近其 N 端的二聚化结构域和一个酸性 N 端。该基因的多个转录本是交替剪接产物。[RefSeq 提供,2022 年 8 月]

This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of Telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]

TERF1 基因产物(14)

mRNA Protein Name
NM_001410928.1 NP_001397857.1 telomeric repeat-binding factor 1 isoform 3
NM_001413364.1 NP_001400293.1 telomeric repeat-binding factor 1 isoform 4
NM_001413365.1 NP_001400294.1 telomeric repeat-binding factor 1 isoform 5
NM_001413366.1 NP_001400295.1 telomeric repeat-binding factor 1 isoform 6
NM_001413367.1 NP_001400296.1 telomeric repeat-binding factor 1 isoform 7
NM_001413368.1 NP_001400297.1 telomeric repeat-binding factor 1 isoform 8
NM_001413369.1 NP_001400298.1 telomeric repeat-binding factor 1 isoform 9
NM_001413370.1 NP_001400299.1 telomeric repeat-binding factor 1 isoform 10
NM_001413371.1 NP_001400300.1 telomeric repeat-binding factor 1 isoform 11
NM_001413372.1 NP_001400301.1 telomeric repeat-binding factor 1 isoform 12
NM_001413373.1 NP_001400302.1 telomeric repeat-binding factor 1 isoform 13
NM_001413374.1 NP_001400303.1 telomeric repeat-binding factor 1 isoform 14
NM_003218.4 NP_003209.2 telomeric repeat-binding factor 1 isoform 2
NM_017489.3 NP_059523.2 telomeric repeat-binding factor 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 DNA binding, bending IDA
IDA: 通过直接分析推断
9130722 GOA
enables G-rich strand telomeric DNA binding IDA
IDA: 通过直接分析推断
17694070 GOA
enables ankyrin repeat binding IPI
IPI: 通过物理相互作用推断
11854288 GOA
enables double-stranded telomeric DNA binding IDA
IDA: 通过直接分析推断
1406665 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
9391075 GOA
enables microtubule binding IDA
IDA: 通过直接分析推断
11943150 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9391075 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
9130722 GOA
contributes to telomerase activity IDA
IDA: 通过直接分析推断
23685356 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
9034193 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
9034193 GOA
part of nuclear telomere cap complex IDA
IDA: 通过直接分析推断
16880378 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
11701125 GOA
located in nucleus IDA
IDA: 通过直接分析推断
1406665 GOA
part of shelterin complex IDA
IDA: 通过直接分析推断
15383534 GOA
part of shelterin complex IPI
IPI: 通过物理相互作用推断
15383534 GOA
colocalizes with spindle IDA
IDA: 通过直接分析推断
11943150 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

TERF1 蛋白结构

TRF

TRF: Telomere repeat binding factor (TRF) (77 - 268)

Myb_DNA-binding

Myb_DNA-binding: Myb-like DNA-binding domain (380 - 427)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 439 a.a.
蛋白主名 其他名称

telomeric repeat-binding factor 1

NIMA-interacting protein 2

TERF1 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
TERF1 P54274 MAPRE1 Homo sapiens Q15691
Y2H
11701125
种属内
TERF1 P54274 MAPRE1 Homo sapiens Q15691
Anti Tag CoIP
11943150
种属内
TERF1 P54274 ACAT2 Homo sapiens Q9BWD1
BiFC
21044950
种属内
TERF1 P54274 FES Homo sapiens P07332
BiFC
21044950
种属内
TERF1 P54274 TNKS Homo sapiens O95271
IF
20696165
种属内
TERF1 P54274 TNKS Homo sapiens O95271
Anti Tag CoIP
33961781
种属内
TERF1 P54274 TNKS Homo sapiens O95271
Anti Tag CoIP
26496610
种属内
TERF1 P54274 CUSTOS Homo sapiens Q96C57
BiFC
21044950
种属内
TERF1 P54274 STAG1 Homo sapiens Q8WVM7
Anti Tag CoIP
17962804
种属内
TERF1 P54274 TERB1 Homo sapiens Q8NA31
Fluorescence
29083416
种属内
TERF1 P54274 TERB1 Homo sapiens Q8NA31
X-Ray Diffraction
29083416
种属内
TERF1 P54274 PRDX6 Homo sapiens P30041
BiFC
21044950
种属间
TERF1 P54274 P0C6X7-PRO_0000037315 Human SARS coronavirus P0C6X7-PRO_0000037315
Y2H Pooling
22046132
种属间
TERF1 P54274 P0C6X7-PRO_0000037315 Human SARS coronavirus P0C6X7-PRO_0000037315
Lumier
22046132
种属内
TERF1 P54274 CEP85 Homo sapiens Q6P2H3
BiFC
21044950
种属内
TERF1 P54274 DDX39A Homo sapiens O00148
BiFC
21044950
种属内
TERF1 P54274 PRDX1 Homo sapiens Q06830
BiFC
21044950
种属内
TERF1 P54274 NAP1L1 Homo sapiens P55209
BiFC
21044950
种属内
TERF1 P54274 DNAJB1 Homo sapiens P25685
BiFC
21044950
种属内
TERF1 P54274 HGD Homo sapiens Q93099
BiFC
21044950
种属内
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7
Anti Tag CoIP
27214791
种属内
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7
Y2H
27214791
种属内
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7
Anti Bait CoIP
27214791
种属内
TERF1 P54274 NUB1 Homo sapiens Q9Y5A7
Pull Down
27214791
种属内
TERF1 P54274 TNPO2 Homo sapiens O14787
BiFC
21044950
种属内
TERF1 P54274 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
33961781
种属内
TERF1 P54274 BLM Homo sapiens P54132
ELISA
15229185
种属内
TERF1 P54274 SOAT1 Homo sapiens P35610
BiFC
21044950
种属内
TERF1 P54274 MDH1 Homo sapiens P40925
BiFC
21044950
种属内
TERF1 P54274 SUPT5H Homo sapiens O00267
BiFC
21044950
种属内
TERF1 P54274 AMPH Homo sapiens P49418
BiFC
21044950
种属内
TERF1 P54274 PAK4 Homo sapiens O96013
BiFC
21044950
种属内
TERF1 P54274 RNF10 Homo sapiens Q8N5U6
BiFC
21044950
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
25416956
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
BiFC
21044950
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Y2H
11701125
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Y2H Pooling
16169070
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Pull Down
21044950
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
CoIP
17589526
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
16880378
种属内
TERF1 P54274 TINF2 Homo sapiens Q9BSI4
Anti Tag CoIP
33961781
种属内
TERF1 P54274 DDX19B Homo sapiens Q9UMR2
BiFC
21044950
种属内
TERF1 P54274 WFS1 Homo sapiens O76024
BiFC
21044950
种属内
TERF1 P54274 LRSAM1 Homo sapiens Q6UWE0
BiFC
21044950
种属内
TERF1 P54274 WARS1 Homo sapiens P23381
BiFC
21044950
种属内
TERF1 P54274 PINX1 Homo sapiens Q96BK5
Pull Down
11701125
种属内
TERF1 P54274 PINX1 Homo sapiens Q96BK5
Y2H
11701125
种属内
TERF1 P54274 PINX1 Homo sapiens Q96BK5
Y2H
27214791
种属内
TERF1 P54274 PINX1 Homo sapiens Q96BK5
BiFC
21044950
种属内
TERF1 P54274 RECQL4 Homo sapiens O94761
BiFC
21044950
种属内
TERF1 P54274 PPM1G Homo sapiens O15355
BiFC
21044950
种属内
TERF1 P54274 ACY1 Homo sapiens Q03154
BiFC
21044950
种属内
TERF1 P54274 PACSIN2 Homo sapiens Q9UNF0
BiFC
21044950
种属内
TERF1 P54274 DNPH1 Homo sapiens O43598
BiFC
21044950
种属内
TERF1 P54274 TRMT1 Homo sapiens Q9NXH9
BiFC
21044950
种属内
TERF1 P54274 HCLS1 Homo sapiens P14317
BiFC
21044950
种属内
TERF1 P54274 CRYBB1 Homo sapiens P53674
BiFC
21044950
种属内
TERF1 P54274 SYK Homo sapiens P43405
BiFC
21044950
种属内
TERF1 P54274 KLHDC4 Homo sapiens Q8TBB5
BiFC
21044950
种属内
TERF1 P54274 AMPD2 Homo sapiens Q01433
BiFC
21044950
种属内
TERF1 P54274 FBXO4 Homo sapiens Q9UKT5-1
Anti Tag CoIP
16275645
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 TERF1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74493 TRF1 Protein, Human (sf9, His) P54274-2/NP_003209 (M1-D419) ≥95%

TERF1 抗体

目录号 产品名 应用 反应物种
HY-P83494 TERF1 Antibody (YA3239) WB, ICC/IF Human, Mouse

关联疾病

疾病名称 别名
Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Cherubism

CRBM

Familial Benign Giant-Cell Tumor Of The Jaw

Familial Fibrous Dysplasia Of Jaw

Familial Multilocular Cystic Disease Of The Jaws

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

Dyskeratosis Congenita, Autosomal Dominant 3

DKCA3

Autosomal Dominant Dyskeratosis Congenita 3

Dyskeratosis Congenita, Autosomal Dominant, 3

Dyskeratosis Congenita, Autosomal Dominant, Type 3

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Arc Syndrome

ARCS1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, And Cholestasis

Arthrogryposis-Renal Dysfunction-Cholestasis

Arthrogryposis - Renal Dysfunction - Cholestasis

Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

Arthrogryposis Renal Dysfunction And Cholestasis 1

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Kidney Failure

Renal Insufficiency

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

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Anaplastic Astrocytoma

Grade Iii Astrocytoma

Astrocytoma, Anaplastic

Grade Iii Astrocytic Tumor

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

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus TERF1 MGD MGI:109634
Canis familiaris TERF1 VGNC VGNC:47254
Bos taurus TERF1 VGNC VGNC:35749
Rattus norvegicus TERF1 RGD RGD:1311574
Felis catus TERF1 VGNC VGNC:66083
Macaca mulatta TERF1 VGNC VGNC:78311
Others TERF1 NCBI