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

ERAL1 - Era like 12S mitochondrial rRNA chaperone 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ERA; CEGA; ERA-W; H-ERA; ERAL1A; ERAL1B; HERA-A; HERA-B; PRLTS6

Gene ID: 26284 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables rRNA binding IDA
IDA: Inferred from direct assay
20604745 GOA
enables ribosomal small subunit binding IDA
IDA: Inferred from direct assay
20604745 GOA
Biological Process GO Annotation Evidence Reference Source
involved in ribosomal small subunit assembly IMP
IMP: Inferred from mutant phenotype
20604745 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
20604745 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERAL1 Protein Structure

MMR_HSR1

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 437 a.a.
Protein Preferred Names Protein Names

GTPase Era, mitochondrial

ERA-like protein 1

ERAL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ERAL1 O75616 SSX2IP Homo sapiens Q9Y2D8
Y2H Prey Pooling
32296183
Intra
ERAL1 O75616 SSX2IP Homo sapiens Q9Y2D8
Y2H Array
32296183
Intra
ERAL1 O75616 SSX2IP Homo sapiens Q9Y2D8
Validated Y2H
32296183
Intra
ERAL1 O75616 SMN1 Homo sapiens Q16637
Y2H Array
32814053
Intra
ERAL1 O75616 SMN1 Homo sapiens Q16637
Validated Y2H
32814053
Intra
ERAL1 O75616 SMN1 Homo sapiens Q16637
Y2H Pooling
32814053
Intra
ERAL1 O75616 A2M Homo sapiens P01023
Y2H Array
32814053
Intra
ERAL1 O75616 A2M Homo sapiens P01023
Y2H Pooling
32814053
Intra
ERAL1 O75616 A2M Homo sapiens P01023
Validated Y2H
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-N2484 Methylnissolin Inhibitor 99.86% Unkown
HY-RS04462 ERAL1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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