1. Gene
  2. RNF216 - ring finger protein 216 Gene

RNF216 - ring finger protein 216 Gene

中文名称:无名指蛋白 216

种属: Homo sapiens

同用名: ZIN; CAHH; U7I1; TRIAD3; UBCE7IP1

基因 ID: 54476 | 基因类型: protein coding

关于 RNF216

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,620,047-5,781,663 (from NCBI)

This gene has 9 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 16.3), lymph node (RPKM 10.2) and 25 other tissues.

功能概要

该基因编码一种细胞质蛋白,该蛋白特异性地与丝氨酸/苏氨酸蛋白激酶、受体相互作用蛋白 (RIP) 共定位并相互作用。编码蛋白的锌指结构域是其与 RIP 相互作用以及抑制 TNF 和 IL1 诱导的 NF-kappa B 激活途径所必需的。编码的蛋白质还可以作为 E3 泛素-蛋白质连接酶发挥作用,它从 E2 泛素结合酶接受泛素并将其转移到底物上。已经针对该基因座描述了几种选择性剪接的转录物变体,但只有一些的全长性质是已知的。[RefSeq 提供,2008 年 7 月]

This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein Ligase which accepts ubiquitin from E2 ubiquitin-conjugating Enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]

RNF216 基因产物(3)

mRNA Protein Name
NM_001377156.1 NP_001364085.1 E3 ubiquitin-protein ligase RNF216 isoform b
NM_207111.4 NP_996994.1 E3 ubiquitin-protein ligase RNF216 isoform a
NM_207116.3 NP_996999.1 E3 ubiquitin-protein ligase RNF216 isoform b
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12600646 GOA
enables ubiquitin protein ligase activity EXP
EXP: 通过实验结果推断
19893624 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
19893624 GOA
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
19893624 GOA
involved in regulation of defense response to virus by host IDA
IDA: 通过直接分析推断
19893624 GOA
involved in regulation of interferon-beta production IDA
IDA: 通过直接分析推断
19893624 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
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF216

RING-type E3 ubiquitin transferase RNF216

RNF216 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
Intra RNF216 Q9NWF9 MTURN Homo sapiens Q8N3F0
Validated Y2H
32296183
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
Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism

Lhrh Deficiency And Ataxia

Cerebellar Ataxia-Hypogonadism Syndrome

GDHS

Cahh

Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

Gordon-Holmes Syndrome

Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

Cerebellar Ataxia - Hypogonadism

Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Boucher-Neuhauser Syndrome

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

BNHS

Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy

Boucher-Neuhäuser Syndrome

Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism

Ataxia - Hypogonadism - Choroidal Dystrophy

Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism

Bns

Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome

Boucher Neuhauser Syndrome

Bardet-Biedl Syndrome 5

BBS5

Bardet-Biedl Syndrome, Type 5

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2

Cadasil 2

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

Htra1-Related Autosomal Dominant Cerebral Angiopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Kaufman Oculocerebrofacial Syndrome

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Huntington Disease-Like 1

HDL1

Huntington-Like Neurodegenerative Disorder 1

Hln1

Huntington'S Disease-Like 1

Early-Onset Prion Disease With Prominent Psychiatric Features

Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

Prion Disease, Early-Onset, With Prominent Psychiatric Features

Autosomal Dominant Huntington-Like Neurodegenerative Disorder

Huntington Disease-Like, Type 1

Spinocerebellar Ataxia, Autosomal Recessive 16

Autosomal Recessive Spinocerebellar Ataxia 16

SCAR16

Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 16

Spinocerebellar Ataxia, Autosomal Recessive, 16

Ataxia, Spinocerebellar, Autosomal Recessive, Type 16

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Choreatic Disease

Chorea

Hereditary Chorea

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

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 RNF216 MGD MGI:1344349
Rattus norvegicus RNF216 RGD RGD:1565135
Canis familiaris RNF216 VGNC VGNC:45659
Felis catus RNF216 VGNC VGNC:64695
Macaca mulatta RNF216 VGNC VGNC:108435
Bos taurus RNF216 VGNC VGNC:34053
Others RNF216 NCBI