2. Gene
  3. TOPORS - TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Gene

TOPORS - TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：TOP1 结合精氨酸/丝氨酸富蛋白，E3 泛素连接酶

种属: Homo sapiens

同用名: LUN; RP31; P53BP3; TP53BPL

基因 ID: 10210 | 基因类型: protein coding

关于 TOPORS

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:32,540,544-32,552,586 (from NCBI)

This gene has 2 transcripts (splice variants), 252 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 10.0) and 25 other tissues.

功能概要

该基因编码一种富含丝氨酸和精氨酸的核蛋白，并包含一个 RING 型锌指结构域。它在睾丸中高度表达，并作为泛素蛋白 E3 连接酶发挥作用。该基因的突变与 31 型视网膜色素变性相关。已针对该基因座观察到编码不同同种型的可变剪接转录物变体。[RefSeq 提供，2010 年 9 月]

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 Ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

TOPORS 基因产物(2)

mRNA Protein Name
NM_001195622.2 NP_001182551.1 E3 ubiquitin-protein ligase Topors isoform 2
NM_005802.5 NP_005793.2 E3 ubiquitin-protein ligase Topors 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 IDA
IDA: 通过直接分析推断
11278651 GOA
enables DNA topoisomerase binding IPI
IPI: 通过物理相互作用推断
10352183 GOA
enables SUMO transferase activity EXP
EXP: 通过实验结果推断
17803295 GOA
enables SUMO transferase activity IDA
IDA: 通过直接分析推断
17803295 GOA
enables SUMO transferase activity IMP
IMP: 通过突变表型推断
19473992 GOA
enables antigen binding IPI
IPI: 通过物理相互作用推断
10415337 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11842245 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
15247280 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
18077445 GOA
enables ubiquitin-protein transferase activity IMP
IMP: 通过突变表型推断
19473992 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
15735665 GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage IDA
IDA: 通过直接分析推断
20188669 GOA
involved in maintenance of protein location in nucleus IDA
IDA: 通过直接分析推断
14516784 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
18077445 GOA
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
15247280 GOA
involved in protein localization to nucleus IMP
IMP: 通过突变表型推断
20188669 GOA
involved in protein monoubiquitination IDA
IDA: 通过直接分析推断
15247280 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
15247280 GOA
involved in protein sumoylation IDA
IDA: 通过直接分析推断
17803295 GOA
involved in protein sumoylation IMP
IMP: 通过突变表型推断
20188669 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
19473992 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with PML body IDA
IDA: 通过直接分析推断
21159800 GOA
located in PML body IDA
IDA: 通过直接分析推断
20188669 GOA
located in centriole IDA
IDA: 通过直接分析推断
21159800 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
21159800 GOA
part of gamma-tubulin complex IDA
IDA: 通过直接分析推断
21159800 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
14516784 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18077445 GOA
located in photoreceptor connecting cilium IDA
IDA: 通过直接分析推断
21159800 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
21159800 GOA
part of ubiquitin ligase complex IDA
IDA: 通过直接分析推断
15247280 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

TOPORS 蛋白结构

zf-C3HC4

zf-C3HC4: Zinc finger, C3HC4 type (RING finger) (103 - 141)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1045 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase Topors

RING-type E3 ubiquitin transferase Topors

TOPORS 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
种属间
TOPORS Q9NS56 Rep68 Adeno-associated virus 2 P03132
Y2H
11842245
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Retinitis Pigmentosa 31

RP31

Retinitis Pigmentosa-31

Retinitis Pigmentosa, Type 31
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Orofaciodigital Syndrome Vi

OFD6

Varadi-Papp Syndrome

Varadi Syndrome

Joubert Syndrome With Orofaciodigital Defect

Orofaciodigital Syndrome Type 6

Orofaciodigital Syndrome 6

Oral-Facial-Digital Syndrome, Type Vi

Ofds Vi

Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation

Polydactyly Cleft Lip Palate Psychomotor Retardation

Oral-Facial-Digital Syndrome Type 6

Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome

Polydactyly - Cleft Lip/Palate - Psychomotor Retardation

Váradi Syndrome

Váradi-Papp Syndrome

Joubert Syndrome With Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome 6

Joubert-Orofaciodigital Syndrome

Orofaciodigital Syndrome, Type Vi
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Retinitis
Cold-Induced Sweating Syndrome 3
Retinitis Pigmentosa 74

RP74

Retinitis Pigmentosa, Type 74
Retinal Degeneration

Degeneration Of Retina
Renal-Hepatic-Pancreatic Dysplasia

Ivemark'S Syndrome

Ivemark Ii Syndrome

Renohepaticopancreatic Dysplasia
Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis

Choroidal Dystrophy

Choroidal Dystrophy, Central Areolar

Cacd

Central Areolar Choroidal Dystrophy

CACD1

Choroidal Dystrophy, Central Areolar 1

Choroidal Dystrophy Central Areolar

Central Areolar Choroidal Sclerosis

Choroidal Degenerations

Areolar Atrophy Of The Macula

Partial Central Choroid Dystrophy

Degenerative Choroidopathy

Chorioretinal Degeneration

Hereditary Chorioretinal Degeneration

Hereditary Degeneration Of Choroid

Hereditary Choroidal Dystrophies

Generalised Choroidal Dystrophy

Hereditary Choroidopathy
Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
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

相关产品

Approval
生物活性分子 (1)
目录号 产品名 作用方式
纯度 是否罕见病
HY-B2143 Montmorillonite ≥98.0% 否
Clinical Phase
生物活性分子 (4)
目录号 产品名 作用方式
纯度 Phase
HY-168739 Topoisomerase I inhibitor 17 / Phase 2
HY-U00248A LMP744 hydrochloride Inhibitor 99.08% Phase 1
HY-U00248 LMP744 Inhibitor 98.85% Phase 1
HY-18350 Indimitecan Inhibitor 98.30% Phase 1
Pre-clinical Phase
生物活性分子 (59)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-111630 PluriSIn #2 Inhibitor ≥98.0% 否
HY-118581 Coralyne chloride Inhibitor 98.30% 否
HY-116785 BRD32048 Inhibitor 99.94% 否
HY-N0114A (±)-Evodiamine 99.74% 否
HY-160005 LMP517 Inhibitor 99.58% 否
HY-122594 BNS-22 Inhibitor 99% 否
HY-164143 T638 Inhibitor 98.61% 否
HY-RS14894 TOP2A Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-160857 TOP5668 Agonist / 否
HY-168489 OBI-992 drug-linker 96.64% 否
HY-RS14893 TOP1MT Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS14897 TOP2B Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-101115 PI3K-IN-6 Inhibitor / 否
HY-P10742 CBX-12 Inhibitor / 否
HY-117142 Quizalofop-P Inhibitor / 否
HY-118911 ATM Inhibitor-10 Inhibitor / 否
HY-120638 BMS-250749 Inhibitor / 否
HY-121560 L-leucyldoxorubicin / 否
HY-121866 CP-84364 Inhibitor / 否
HY-123393 PNU-142586 Inhibitor / 否
HY-125387 TOP1210 / 否
HY-13550 Ametantrone Inhibitor / 否
HY-143265 Topoisomerase I inhibitor 2 / 否
HY-144222 NSC 828467 Inhibitor / 否
HY-144654 HDAC/Top-IN-1 Inhibitor / 否
HY-145851 Top/HDAC-IN-1 / 否
HY-145852 Top/HDAC-IN-2 / 否
HY-146437 Topoisomerase I inhibitor 6 Inhibitor / 否
HY-149348 DiPT-4 / 否
HY-159935 Top1-IN-2 Inhibitor / 否
HY-159966 Top/HDAC-IN-3 / 否
HY-160856 TOP5300 Agonist / 否
HY-161957 Top1/2-IN-1 Inhibitor / 否
HY-163118 Topoisomerase II inhibitor 17 / 否
HY-16560B (R)-Camptothecin Control / 否
HY-171124 Tilatamig samrotecan Inhibitor / 否
HY-172259 Toyaburgine Inhibitor / 否
HY-173001 AuL1 Inhibitor / 否
HY-174374 Topobexin Inhibitor / 否
HY-18350A Indimitecan hydrochloride Inhibitor / 否
HY-P4926 Mca-SEVKMDAEFRK(Dnp)RR-NH2 / 否
HY-RS14890 TOP1 Human Pre-designed siRNA Set A / 否
HY-RS14891 Top1 Mouse Pre-designed siRNA Set A / 否
HY-RS14892 Top1 Rat Pre-designed siRNA Set A / 否
HY-RS14895 Top2a Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS14896 Top2a Rat Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS14898 TOP3A Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS14899 TOP3B Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS14902 TOPORS Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-118942 Topovale Inhibitor 99.94% 否
HY-133219 Guajadial C Inhibitor / 否
HY-160930 TOP1288 Inhibitor / 否
HY-164429 VIP236 / 否
HY-169173 AL284 Inhibitor / 否
HY-RS20119 Top2b Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21791 Top3a Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26623 Top2b Rat Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28307 Top3a Rat Pre-designed siRNA Set A Pre-designed Set / 否
HY-126142 Top1 inhibitor 1 Inhibitor 99.67% 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TOPORS RGD RGD:1305270
Canis familiaris TOPORS VGNC VGNC:47712
Macaca mulatta TOPORS VGNC VGNC:79330
Mus musculus TOPORS MGD MGI:2146189
Felis catus TOPORS VGNC VGNC:66453
Bos taurus TOPORS VGNC VGNC:36222
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