2. Gene
  3. RNF217 - ring finger protein 217 Gene

RNF217 - ring finger protein 217 Gene

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

中文名称：无名指蛋白 217

种属: Homo sapiens

同用名: OSTL; IBRDC1; C6orf172; dJ84N20.1

基因 ID: 154214 | 基因类型: protein coding

关于 RNF217

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:124,962,437-125,092,634 (from NCBI)

This gene has 11 transcripts (splice variants), 198 orthologues and 9 paralogues. Ubiquitous expression in fat (RPKM 3.1), skin (RPKM 2.9) and 25 other tissues.

功能概要

这种由该基因编码的蛋白质是 RING1-IBR-RING24 (RBR) 泛素蛋白连接酶家族的成员，它属于这些包含跨膜结构域的蛋白质的亚家族。这种蛋白质可以通过其 C 末端环指基序与 HAX1 抗凋亡蛋白相互作用，这表明它在细胞凋亡信号传导中起作用。人们认为该基因的失调可能是白血病发生的一种机制。在人类癌症中发现了编码蛋白质 GXXXG 基序的区域突变，这似乎是蛋白质自结合所必需的。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2016 年 4 月]

This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein Ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in Apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

RNF217 基因产物(2)

mRNA Protein Name
NM_001286398.3 NP_001273327.1 E3 ubiquitin-protein ligase RNF217 isoform a
NM_152553.5 NP_689766.1 E3 ubiquitin-protein ligase RNF217 isoform b

RNF217 蛋白结构

IBR

IBR: IBR domain, a half RING-finger domain (338 - 396)

IBR

IBR: IBR domain, a half RING-finger domain (416 - 457)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 542 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF217

IBR domain containing 1

关联疾病

疾病名称 别名
Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord
Childhood B-Cell Acute Lymphoblastic Leukemia

B-Cell Childhood Acute Lymphoblastic Leukemia
Arthrogryposis, Distal, Type 6

Distal Arthrogryposis Type 6

DA6

Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome

Arthrogryposis And Sensorineural Deafness

Familial Hand Abnormality And Sensori-Neural Deafness

Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness

Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss 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

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12081 RNF217 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RNF217 VGNC VGNC:64696
Rattus norvegicus RNF217 RGD RGD:1306836
Bos taurus RNF217 VGNC VGNC:53802
Canis familiaris RNF217 VGNC VGNC:53762
Mus musculus RNF217 MGD MGI:3610311
Macaca mulatta RNF217 VGNC VGNC:76801
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