ERAL1 - Era like 12S mitochondrial rRNA chaperone 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26284

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 References 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 References Source
involved in ribosomal small subunit assembly IMP
IMP: Inferred from mutant phenotype
20604745 GOA
Cellular Component GO Annotation Evidence References 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 References
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04462 ERAL1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22490 Eral1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29013 Eral1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others ERAL1 NCBI