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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
  • HERA-A 3
  • HERA-B 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. Among its related pathways are Integrated Breast Cancer Pathway and Mitochondrial translation. GO annotations related to this gene include poly(A) RNA binding and 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERAL1 Gene

Genomics for ERAL1 Gene

Regulatory Elements for ERAL1 Gene

Enhancers for ERAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F028923 1.5 FANTOM5 Ensembl ENCODE 11.8 +71.1 71126 4.8 PKNOX1 ATF1 FEZF1 CBX5 FOS PAF1 NCOA1 JUNB TSHZ1 TBX21 PHF12 FLOT2 DHRS13 ERAL1 FAM222B SEZ6 SNORD42A SNORD4A SNORD4B PROCA1
GH17F028807 1.4 FANTOM5 ENCODE 12.2 -44.5 -44499 6.8 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FOS TRAF4 ENSG00000264577 ENSG00000265205 NUFIP2 ENSG00000265908 ERAL1 FAM222B FLOT2 DHRS13 LOC101927018
GH17F028760 1.2 Ensembl ENCODE 12 -93.7 -93667 2.2 ARNT CREB3L1 SIN3A YBX1 ETS1 ZNF766 KLF13 MEF2D MBD2 SMARCA4 TRAF4 TLCD1 NEK8 SNORD42A SNORD4B ERAL1 FAM222B SNORD4A RAB34 RPL23A
GH17F028911 0.9 ENCODE 12.4 +57.4 57388 1.3 HDAC1 ATF1 PKNOX1 CBX3 ARNT TBL1XR1 CREB3L1 RAD21 ZNF366 GATA2 ERAL1 FAM222B SNORD42A SNORD4A RAB34 RPL23A SNORD42B DHRS13 LOC101927018
GH17F028914 0.8 ENCODE 12.4 +59.9 59860 0.1 PKNOX1 CBX3 JUN SIN3A ZNF335 ZNF316 CTBP1 GATA3 ELK1 PATZ1 ERAL1 FAM222B SNORD42A SNORD42B SNORD4A RAB34 RPL23A DHRS13 LOC101927018
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERAL1 on UCSC Golden Path with GeneCards custom track

Promoters for ERAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001343483 163 1800 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for ERAL1 Gene

Chromosome:
17
Start:
28,854,938 bp from pter
End:
28,861,067 bp from pter
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 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 Lys 393 and Lys 398
  • 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

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 :
  • Contains 1 Era-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Era GTPase family.
Domain:
  • Contains 1 Era-type G (guanine nucleotide-binding) domain.
  • Contains 1 KH type-2 domain.
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

No data available for Gene Families for ERAL1 Gene

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.

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 --
GO:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA,IBA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for ERAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix IEA,IDA 20604745
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 --
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with ERAL1: view

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia ERAL1 34
  • 85.51 (n)
cfa-mir-451 35
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERAL1 34 35
  • 84.44 (n)
rat
(Rattus norvegicus)
Mammalia Eral1 34
  • 83.06 (n)
mouse
(Mus musculus)
Mammalia Eral1 34 16 35
  • 82.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERAL1 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERAL1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERAL1 34 35
  • 61.58 (n)
lizard
(Anolis carolinensis)
Reptilia ERAL1 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495069 34
  • 60.25 (n)
Str.11903 34
zebrafish
(Danio rerio)
Actinopterygii eral1 34 35
  • 56.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010622 34
  • 49.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7488 34 35
  • 45.7 (n)
worm
(Caenorhabditis elegans)
Secernentea E02H1.2 34 35
  • 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 Sequence Context AA Info Type
rs1042900 -- 28,855,078(+) ATCGG(C/T)GTTAA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1042938 -- 28,860,992(+) CAATT(C/T)TTGAT nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs111679207 -- 28,854,807(+) TTGTG(C/T)ATGGG intron-variant, upstream-variant-2KB
rs112005054 -- 28,856,314(+) ATTCC(C/T)GGGTC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs112549061 -- 28,860,307(+) TCGCA(C/G)TGTTA intron-variant, upstream-variant-2KB

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)

Relevant External Links for ERAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERAL1

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

Disorders for ERAL1 Gene

Relevant External Links for ERAL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERAL1

No disorders were found for ERAL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and 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 R.N. (Biochem. J. 2010) 2 3 4 64
  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 Cells 2001) 3 4 22 64
  3. Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. (PMID: 10945472) Britton R.A. … Lupski J.R. (Genomics 2000) 2 3 4 64
  4. 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 Res. 2010) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ERAL1 Gene

Sources for ERAL1 Gene

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