1. Gene
  2. RNF130 - ring finger protein 130 Gene

RNF130 - ring finger protein 130 Gene

中文名称:无名指蛋白 130

种属: Homo sapiens

同用名: GP; G1RP; G1RZFP; GOLIATH

基因 ID: 55819 | 基因类型: protein coding

关于 RNF130

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,911,651-180,071,759 (from NCBI)

This gene has 8 transcripts (splice variants), 212 orthologues and 9 paralogues. Ubiquitous expression in fat (RPKM 11.3), brain (RPKM 9.7) and 25 other tissues.

功能概要

该基因编码的蛋白质包含一个环指基序,类似于 g1,一种在中胚层中表达并参与胚胎发育的果蝇锌指蛋白。在 IL3 剥夺后,发现小鼠对应物的表达在成髓细胞中上调,表明该基因可能调节生长因子戒断诱导的骨髓前体细胞凋亡。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced Apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RNF130 基因产物(3)

mRNA Protein Name
NM_001280801.2 NP_001267730.1 E3 ubiquitin-protein ligase RNF130 isoform 2 precursor
NM_001410829.1 NP_001397758.1 E3 ubiquitin-protein ligase RNF130 isoform 3 precursor
NM_018434.6 NP_060904.2 E3 ubiquitin-protein ligase RNF130 isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
16549277 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16549277 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

RNF130 蛋白结构

PA

PA: PA domain (97 - 169)

zf-RING_2

zf-RING_2: Ring finger domain (263 - 305)

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

E3 ubiquitin-protein ligase RNF130

RING-type E3 ubiquitin transferase RNF130

关联疾病

疾病名称 别名
Pilocytic Astrocytoma Of Cerebellum

Cerebellar Pilocytic Astrocytoma

Cerebellar Astrocytoma

Astrocytoma Of Cerebellum

Pilomyxoid Astrocytoma
Cerebellum Cancer

Cerebellar Neoplasms

Cerebellar Cancer

Malignant Tumor Of Cerebellum

Malignant Neoplasm Of Cerebellum

Dysembryoplastic Neuroepithelial Tumor

Dysembryoplastic Neuroepithelial Tumour

Dysembryoplastic Neuroepithelial Neoplasm

Dnet

Papillary Craniopharyngioma

Craniopharyngioma, Papillary

Papillary Rathke'S Pouch Tumor

Craniopharyngioma Papillary

Childhood Pilocytic Astrocytoma

Pediatric Pilocytic Astrocytoma

Pilocytic Astrocytoma

Juvenile Pilocytic Astrocytoma

Grade I Astrocytic Tumor

Piloid Astrocytoma

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
Felis catus RNF130 VGNC VGNC:64670
Bos taurus RNF130 VGNC VGNC:34021
Macaca mulatta RNF130 VGNC VGNC:76764
Mus musculus RNF130 MGD MGI:1891717
Rattus norvegicus RNF130 RGD RGD:1562041
Canis familiaris RNF130 VGNC VGNC:45630