ERAL1 Gene (Protein Coding)

Era Like 12S Mitochondrial RRNA Chaperone 1

GC17P029062
GIFtS:
40
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 vari... See more...

Aliases for ERAL1 Gene

Aliases for ERAL1 Gene

  • Era Like 12S Mitochondrial RRNA Chaperone 1 2 3 5
  • Era (E. Coli G-Protein Homolog)-Like 1 2 3
  • GTPase Era, Mitochondrial 3 4
  • Conserved ERA-Like GTPase 3 4
  • ERA-Like Protein 1 3 4
  • HERA-B 2 3
  • ERA-W 3 4
  • H-ERA 3 4
  • CEGA 3 4
  • HERA 4 4
  • GTPase, Human Homolog Of E. Coli Essential Cell Cycle Protein Era 3
  • Era-Like 12S Mitochondrial RRNA Chaperone 1 2
  • GTP-Binding Protein Era Homolog 3
  • Era G-Protein-Like 1 (E. Coli) 2
  • Era G-Protein-Like 1 3
  • ERAL1A 3
  • ERAL1B 3
  • HERA-A 3
  • PRLTS6 3
  • ERAL1 5
  • ERA 3

External Ids for ERAL1 Gene

Previous GeneCards Identifiers for ERAL1 Gene

  • GC17P027027
  • GC17P029081
  • GC17P027327
  • GC17P024206
  • GC17P027182
  • GC17P023390
  • GC17P028854

Summaries for ERAL1 Gene

Entrez Gene Summary for ERAL1 Gene

  • 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]

GeneCards Summary for ERAL1 Gene

ERAL1 (Era Like 12S Mitochondrial RRNA Chaperone 1) is a Protein Coding gene. Diseases associated with ERAL1 include Perrault Syndrome 6 and Perrault Syndrome. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is GTPBP3.

UniProtKB/Swiss-Prot Summary for ERAL1 Gene

  • Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.

Additional gene information for ERAL1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERAL1 Gene

Genomics for ERAL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ERAL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERAL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERAL1

Top Transcription factor binding sites by QIAGEN in the ERAL1 gene promoter:
  • AML1a
  • AREB6
  • C/EBPbeta
  • CUTL1
  • ER-alpha
  • p53
  • Roaz
  • ZIC2

Genomic Locations for ERAL1 Gene

Latest Assembly
chr17:28,855,010-28,861,061
(GRCh38/hg38)
Size:
6,052 bases
Orientation:
Plus strand

Previous Assembly
chr17:27,182,034-27,188,079
(GRCh37/hg19 by Entrez Gene)
Size:
6,046 bases
Orientation:
Plus strand

chr17:27,181,956-27,188,085
(GRCh37/hg19 by Ensembl)
Size:
6,130 bases
Orientation:
Plus strand

Genomic View for ERAL1 Gene

Genes around ERAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERAL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ERAL1 Gene

Proteins for ERAL1 Gene

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  • Protein details for ERAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75616-ERAL1_HUMAN
    Recommended name:
    GTPase Era, mitochondrial
    Protein Accession:
    O75616
    Secondary Accessions:
    • B3KN21
    • C9JEC6
    • O75617
    • Q8WUY4
    • Q96LE2
    • Q96TC0

    Protein attributes for ERAL1 Gene

    Size:
    437 amino acids
    Molecular mass:
    48350 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG12978.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform HERA-B]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for ERAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERAL1 Gene

Protein Expression for ERAL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ERAL1 Gene

  • Ubiquitination at Lys393 and Lys398
  • Modification sites at PhosphoSitePlus

Other Protein References for ERAL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERAL1 Gene

Domains & Families for ERAL1 Gene

Gene Families for ERAL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ERAL1 Gene

InterPro:
Blocks:
  • GTP-binding protein, HSR1-related
  • GTP1/OBG GTP-binding protein family signature

Suggested Antigen Peptide Sequences for ERAL1 Gene

GenScript: Design optimal peptide antigens:
  • ERA-like protein 1 (ERAL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75616

UniProtKB/Swiss-Prot:

ERAL1_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Era GTPase family.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Era GTPase family.
genes like me logo Genes that share domains with ERAL1: view

Function for ERAL1 Gene

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  6. Cell Lines for research

Molecular function for ERAL1 Gene

UniProtKB/Swiss-Prot Function:
Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.

Phenotypes From GWAS Catalog for ERAL1 Gene

Gene Ontology (GO) - Molecular Function for ERAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
GO:0019843 rRNA binding IBA,IDA 20604745
genes like me logo Genes that share ontologies with ERAL1: view
genes like me logo Genes that share phenotypes with ERAL1: view

Human Phenotype Ontology for ERAL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for ERAL1 Gene

miRTarBase miRNAs that target ERAL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ERAL1 Gene

Localization for ERAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERAL1 Gene

Mitochondrion matrix. Mitochondrion inner membrane. Peripheral membrane protein. Note=Localizes on the matrix side on the mitochondrial inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERAL1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ERAL1: view

Pathways & Interactions for ERAL1 Gene

genes like me logo Genes that share pathways with ERAL1: view

Gene Ontology (GO) - Biological Process for ERAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA,IMP 20604745
GO:0042254 ribosome biogenesis IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with ERAL1: view

No data available for SIGNOR curated interactions for ERAL1 Gene

Drugs & Compounds for ERAL1 Gene

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(1) Drugs for ERAL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ERAL1: view

Transcripts for ERAL1 Gene

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mRNA/cDNA for ERAL1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAL1

Alternative Splicing Database (ASD) splice patterns (SP) for ERAL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5:
SP6:
SP7:

Relevant External Links for ERAL1 Gene

GeneLoc Exon Structure for
ERAL1

Expression for ERAL1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERAL1 Gene

mRNA expression in normal human tissues for ERAL1 Gene
mRNA expression by GTEx for ERAL1 GenemRNA expression by BioGPS for ERAL1 Gene

Protein differential expression in normal tissues from HIPED for ERAL1 Gene

This gene is overexpressed in Lung (30.4), Breast (25.5), and Bone (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERAL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERAL1

SOURCE GeneReport for Unigene cluster for ERAL1 Gene:

Hs.3426

Evidence on tissue expression from TISSUES for ERAL1 Gene

  • Nervous system(4.9)
  • Intestine(4.5)
  • Liver(3.6)
  • Muscle(2.5)
  • Skin(2.4)
  • Lung(2.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with ERAL1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERAL1 Gene

Orthologs for ERAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERAL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ERAL1 29 30
  • 99.31 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ERAL1 29
  • 85.51 (n)
cfa-mir-451 30
  • 81 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ERAL1 29 30
  • 84.44 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Eral1 29
  • 83.06 (n)
Mouse
(Mus musculus)
 Mammalia Eral1 29 16 30
  • 82.91 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ERAL1 30
  • 75 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ERAL1 30
  • 65 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ERAL1 29 30
  • 61.58 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ERAL1 30
  • 70 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100495069 29
  • 60.25 (n)
Str.11903 29
Zebrafish
(Danio rerio)
 Actinopterygii eral1 29 30
  • 56.78 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010622 29
  • 49.22 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7488 29 30
  • 45.7 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea E02H1.2 29 30
  • 41.15 (n)
 OneToOne
Species where no ortholog for ERAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ERAL1 Gene

ENSEMBL:
Gene Tree for ERAL1 (if available)
TreeFam:
Gene Tree for ERAL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERAL1: view image
Alliance of Genome Resources:
Additional Orthologs for ERAL1

Paralogs for ERAL1 Gene

Paralogs for ERAL1 Gene

genes like me logo Genes that share paralogs with ERAL1: view

Variants for ERAL1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERAL1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1031568 Pathogenic: Perrault syndrome 6 28,859,060(+) C/T
NM_005702.4(ERAL1):c.1057C>T (p.Arg353Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
1031569 Uncertain Significance: Perrault syndrome 6 28,855,185(+) G/A
NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs113169217 Perrault syndrome 6 (PRLTS6) [MIM:617565] p.Asn236Ile
rs1131692170 Pathogenic: Perrault syndrome 6 28,858,482(+) A/T
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERAL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ERAL1 Gene

Variant ID Type Subtype PubMed ID
esv3640315 CNV loss 21293372

Variation tolerance for ERAL1 Gene

Residual Variation Intolerance Score: 47.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERAL1 Gene

Human Gene Mutation Database (HGMD)
ERAL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERAL1
Leiden Open Variation Database (LOVD)
ERAL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERAL1 Gene

Disorders for ERAL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ERAL1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
perrault syndrome 6
  • prlts6
perrault syndrome
  • gonadal dysgenesis, xx type
myasthenic syndrome, congenital, 8
  • cms8
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3
  • peoa3
codas syndrome
  • cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERAL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERAL1_HUMAN
  • Perrault syndrome 6 (PRLTS6) [MIM:617565]: A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive. {ECO:0000269 PubMed:28449065}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ERAL1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ERAL1: view

No data available for Genatlas for ERAL1 Gene

Publications for ERAL1 Gene

  1. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. (PMID: 28449065) Chatzispyrou IA … Plomp AS (Human molecular genetics 2017) 3 4 72
  2. Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit. (PMID: 20604745) Dennerlein S … Lightowlers RN (The Biochemical journal 2010) 2 3 4
  3. Mammalian homologue of E. coli Ras-like GTPase (ERA) is a possible apoptosis regulator with RNA binding activity. (PMID: 11733036) Akiyama T … Inoue J (Genes to cells : devoted to molecular & cellular mechanisms 2001) 3 4 22
  4. Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. (PMID: 10945472) Britton RA … Lupski JR (Genomics 2000) 2 3 4
  5. ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation. (PMID: 20430825) Uchiumi T … Kang D (Nucleic acids research 2010) 3 4

ExternalLinks

View latest publications for ERAL1 gene in Mastermind

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Sources for ERAL1 Gene