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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
  • Conserved ERA-Like GTPase 3 4
  • ERA-Like Protein 1 3 4
  • ERA-W 3 4
  • H-ERA 3 4
  • CEGA 3 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
  • GTPase Era, Mitochondrial 3
  • Era G-Protein-Like 1 3
  • ERAL1A 3
  • ERAL1B 3
  • HERA-A 3
  • HERA-B 3
  • PRLTS6 3
  • HERA 4
  • ERA 3

External Ids for ERAL1 Gene

Previous GeneCards Identifiers for ERAL1 Gene

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

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 Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ERAL1 Gene

Genomics for ERAL1 Gene

GeneHancer (GH) Regulatory Elements for ERAL1 Gene

Promoters and enhancers for ERAL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I028854 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 120 1.7 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 FAM222B ERAL1 FLOT2 DHRS13 SNORD42A SNORD4A SNORD4B PROCA1
GH17I028807 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 -44.5 -44499 6.8 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FAM222B TRAF4 LOC101927018 ERAL1 FLOT2 DHRS13 NEK8 TLCD1 SNORD42A SNORD4B
GH17I028923 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +71.1 71125 4.8 PKNOX1 ATF1 FEZF1 IRF4 ZNF766 FOS ATF7 RUNX3 PAF1 JUNB LOC101927018 PHF12 FLOT2 DHRS13 ERAL1 FAM222B SEZ6 SUPT6H NUFIP2 SNORD42A
GH17I029041 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 9.9 +188.1 188057 2.6 SMAD1 MLX ZFP64 FEZF1 DMAP1 GLI4 ZNF48 YY1 ETS1 GLIS2 PIPOX ENSG00000264044 TIAF1 SUPT6H PHF12 MYO18A SEZ6 SGK494 TMEM199 ERAL1
GH17I029743 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.9 +889.9 889894 1.8 FOXA2 SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF213 ZNF302 KLF13 ZNF662 GOSR1 LRRC37BP1 SH3GL1P2 SUZ12P1 SMURF2P1 CORO6 NUFIP2 TBC1D29 ENSG00000264290 LOC101927018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERAL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERAL1 gene promoter:

Genomic Locations for ERAL1 Gene

Genomic Locations for ERAL1 Gene
chr17:28,854,938-28,861,067
(GRCh38/hg38)
Size:
6,130 bases
Orientation:
Plus strand
chr17:27,181,956-27,188,085
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for ERAL1 Gene

Proteins for ERAL1 Gene

  • 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERAL1 Gene

Post-translational modifications for ERAL1 Gene

  • Ubiquitination at posLast=393393 and posLast=398398
  • Modification sites at PhosphoSitePlus

Other Protein References for ERAL1 Gene

No data available for DME Specific Peptides for ERAL1 Gene

Domains & Families for ERAL1 Gene

Gene Families for ERAL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ERAL1 Gene

GenScript: Design optimal peptide antigens:

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

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 IEA,IDA 20604745
genes like me logo Genes that share ontologies with ERAL1: view
genes like me logo Genes that share phenotypes with ERAL1: view

Animal Model Products

miRNA for ERAL1 Gene

miRTarBase miRNAs that target ERAL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
peroxisome 2
nucleus 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:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
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 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

(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

Unigene Clusters for ERAL1 Gene

Era G-protein-like 1 (E. coli):
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
ERAL1

Expression for ERAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for ERAL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ERAL1 Gene:

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(3.4)
  • Lung(2.4)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ERAL1: view

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 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia ERAL1 33
  • 85.51 (n)
cfa-mir-451 34
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERAL1 33 34
  • 84.44 (n)
rat
(Rattus norvegicus)
Mammalia Eral1 33
  • 83.06 (n)
mouse
(Mus musculus)
Mammalia Eral1 33 16 34
  • 82.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERAL1 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERAL1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERAL1 34 33
  • 61.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERAL1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495069 33
  • 60.25 (n)
Str.11903 33
zebrafish
(Danio rerio)
Actinopterygii eral1 33 34
  • 56.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010622 33
  • 49.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7488 33 34
  • 45.7 (n)
worm
(Caenorhabditis elegans)
Secernentea E02H1.2 33 34
  • 41.15 (n)
Species where no ortholog for ERAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ERAL1 Gene

No data available for Paralogs for ERAL1 Gene

Variants for ERAL1 Gene

Sequence variations from dbSNP and Humsavar for ERAL1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
VAR_079209 Perrault syndrome 6 (PRLTS6) [MIM:617565] p.Asn236Ile
rs1000274437 -- 28,857,803(+) A/G intron_variant
rs1000857312 -- 28,855,351(+) C/A intron_variant
rs1001285364 -- 28,856,418(+) C/T intron_variant
rs1001695509 -- 28,855,988(+) T/C intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ERAL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERAL1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
perrault syndrome 6
  • prlts6
perrault syndrome
  • gonadal dysgenesis, xx type
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ERAL1

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

No data available for Genatlas for ERAL1 Gene

Publications for ERAL1 Gene

  1. 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 58
  2. 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 58
  3. 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 58
  4. 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 58
  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 58

Products for ERAL1 Gene

Sources for ERAL1 Gene

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