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  2. RLIM - ring finger protein, LIM domain interacting Gene

RLIM - ring finger protein, LIM domain interacting Gene

中文名称:无名指蛋白,LIM 结构域相互作用

种属: Homo sapiens

同用名: MRX61; RNF12; TOKAS; NY-REN-43

基因 ID: 51132 | 基因类型: protein coding

关于 RLIM

Cytogenetic location: Xq13.2 Genomic coordinates (GRCh38): X:74,582,976-74,614,624 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.2), brain (RPKM 9.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是 RING-H2 锌指蛋白。它已被证明是一种 E3 泛素蛋白连接酶,靶向 LIM 结构域结合 1 (LDB1/CLIM) ,并导致 LDB1 的蛋白酶体依赖性降解。这种蛋白质和 LDB1 是同源域转录因子 LHX1/LIM-1 的共抑制因子。已经鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供,2009 年 2 月]

The protein encoded by this gene is a RING-H2 Zinc Finger Protein. It has been shown to be an E3 ubiquitin protein Ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

RLIM 基因产物(2)

mRNA Protein Name
NM_016120.4 NP_057204.2 E3 ubiquitin-protein ligase RLIM
NM_183353.3 NP_899196.1 E3 ubiquitin-protein ligase RLIM
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in random inactivation of X chromosome IDA
IDA: 通过直接分析推断
19945382 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

RLIM 蛋白结构

zf-RING_2

zf-RING_2: Ring finger domain (569 - 611)

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

E3 ubiquitin-protein ligase RLIM

E3 ubiquitin-protein ligase RNF12

关联疾病

疾病名称 别名
Tonne-Kalscheuer Syndrome

TOKAS

Mrx61

Intellectual Developmental Disorder With Or Without Hand And Foot Anomalies, Genital Anomalies, Or Congenital Diaphragmatic Hernia

Mental Retardation, X-Linked 61

X-Linked Mental Retardation 61

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Retinitis Pigmentosa 24

RP24

Retinitis Pigmentosa-24

Non-Syndromic X-Linked Intellectual Disability 98

Mrx98

X-Linked Mental Retardation 98

Retinitis Pigmentosa 26

RP26

Retinitis Pigmentosa-26

Retinitis Pigmentosa, Type 26

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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 RLIM MGD MGI:1342291
Bos taurus RLIM VGNC VGNC:56952
Macaca mulatta RLIM VGNC VGNC:103853
Rattus norvegicus RLIM RGD RGD:1559832
Felis catus RLIM VGNC VGNC:97606
Canis familiaris RLIM VGNC VGNC:54186