2. Gene
  3. ERAL1 - Era like 12S mitochondrial rRNA chaperone 1 Gene

ERAL1 - Era like 12S mitochondrial rRNA chaperone 1 Gene

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

中文名称：Era like 12S 线粒体 rRNA 伴侣 1

种属: Homo sapiens

同用名: ERA; CEGA; ERA-W; H-ERA; ERAL1A; ERAL1B; HERA-A; HERA-B; PRLTS6

基因 ID: 26284 | 基因类型: protein coding

关于 ERAL1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,855,016-28,861,061 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 14.7), placenta (RPKM 13.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种定位于线粒体的 GTP 酶。编码的蛋白质与 12S 线粒体 rRNA 的 3' 末端茎环结合，并且是正确组装 28S 小线粒体核糖体亚基所必需的。该基因的缺失已被证明会导致线粒体功能障碍、生长迟缓和细胞凋亡。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and Apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

ERAL1 基因产物(3)

mRNA Protein Name
NM_001317985.2 NP_001304914.1 GTPase Era, mitochondrial isoform 2
NM_001317986.2 NP_001304915.1 GTPase Era, mitochondrial isoform 3
NM_005702.4 NP_005693.1 GTPase Era, mitochondrial 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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables rRNA binding IDA
IDA: 通过直接分析推断
20604745 GOA
enables ribosomal small subunit binding IDA
IDA: 通过直接分析推断
20604745 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ribosomal small subunit assembly IMP
IMP: 通过突变表型推断
20604745 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
20604745 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

ERAL1 蛋白结构

MMR_HSR1

MMR_HSR1: 50S ribosome-binding GTPase (115 - 237)

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

GTPase Era, mitochondrial

ERA-like protein 1

ERAL1 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
种属内
ERAL1 O75616 SSX2IP Homo sapiens Q9Y2D8
Y2H Prey Pooling
32296183
种属内
ERAL1 O75616 SSX2IP Homo sapiens Q9Y2D8
Y2H Array
32296183
种属内
ERAL1 O75616 SSX2IP Homo sapiens Q9Y2D8
Validated Y2H
32296183
种属内
ERAL1 O75616 SMN1 Homo sapiens Q16637
Y2H Array
32814053
种属内
ERAL1 O75616 SMN1 Homo sapiens Q16637
Validated Y2H
32814053
种属内
ERAL1 O75616 SMN1 Homo sapiens Q16637
Y2H Pooling
32814053
种属内
ERAL1 O75616 A2M Homo sapiens P01023
Y2H Array
32814053
种属内
ERAL1 O75616 A2M Homo sapiens P01023
Y2H Pooling
32814053
种属内
ERAL1 O75616 A2M Homo sapiens P01023
Validated Y2H
32814053
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
Perrault Syndrome 6

PRLTS6

Perrault Syndrome, Type 6
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Mirror Agnosia
Lobomycosis

Cutaneous Blastomycosis

Cutaneous Lobomycosis

Infection By Loboa Loboi

Lobo Disease
Her2-Receptor Positive Breast Cancer
Cervical Carcinosarcoma

Cervical Malignant Mixed Mesodermal Mullerian Tumor

Cervical Malignant Mixed Mullerian Tumor

Cervical Mixed Epithelial And Mesenchymal Neoplasm
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-N2484 Methylnissolin Inhibitor 99.86% 否
HY-RS04462 ERAL1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ERAL1 VGNC VGNC:28559
Canis familiaris ERAL1 VGNC VGNC:40432
Felis catus ERAL1 VGNC VGNC:61925
Macaca mulatta ERAL1 VGNC VGNC:72251
Rattus norvegicus ERAL1 RGD RGD:1304714
Mus musculus ERAL1 MGD MGI:1889295
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