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    ERAL1 Era like 12S mitochondrial rRNA chaperone 1 [ Homo sapiens (human) ]

    Gene ID: 26284, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ERAL1provided by HGNC
    Official Full Name
    Era like 12S mitochondrial rRNA chaperone 1provided by HGNC
    Primary source
    HGNC:HGNC:3424
    See related
    Ensembl:ENSG00000132591 MIM:607435; AllianceGenome:HGNC:3424
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERA; CEGA; ERA-W; H-ERA; ERAL1A; ERAL1B; HERA-A; HERA-B; PRLTS6
    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]
    Expression
    Ubiquitous expression in brain (RPKM 14.7), placenta (RPKM 13.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    17q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28855016..28861061)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29797789..29803834)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27182034..27188079)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 222 member B Neighboring gene uncharacterized LOC124903965 Neighboring gene ribosomal protein L31 pseudogene 58 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:27135759-27136700 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27139060-27139702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27148955-27149456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27149457-27149956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27164662-27165545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27169387-27169901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27181187-27181692 Neighboring gene H3K27ac hESC enhancers GRCh37_chr17:27181693-27182199 and GRCh37_chr17:27182200-27182705 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 Neighboring gene uncharacterized LOC124903966 Neighboring gene microRNA 451a Neighboring gene microRNA 451b Neighboring gene microRNA 144

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Autophagy is induced through the ROS-TP53-DRAM1 pathway in response to mitochondrial protein synthesis inhibition. Xie X, et al. Autophagy, 2012 Jul 1. PMID 22576012, Free PMC Article
    2. The role of TFAM-associated proteins in mitochondrial RNA metabolism. Uchiumi T, et al. Biochim Biophys Acta, 2012 May. PMID 21920408
    3. ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation. Uchiumi T, et al. Nucleic Acids Res, 2010 Sep. PMID 20430825, Free PMC Article
    4. Mammalian homologue of E. coli Ras-like GTPase (ERA) is a possible apoptosis regulator with RNA binding activity. Akiyama T, et al. Genes Cells, 2001 Nov. PMID 11733036
    5. The mitochondrial protein ERAL1 suppresses RNA virus infection by facilitating RIG-I-like receptor signaling. Li S, et al. Cell Rep, 2021 Jan 19. PMID 33472079

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Perrault syndrome 6
    MedGen: C4479656 OMIM: 617565 GeneReviews: Perrault Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with ERAL1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ribosomal small subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribosomal small subunit binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    GTPase Era, mitochondrial
    Names
    ERA-like protein 1
    Era G-protein-like 1
    GTP-binding protein era homolog
    GTPase, human homolog of E. coli essential cell cycle protein Era
    conserved ERA-like GTPase
    era (E. coli G-protein homolog)-like 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001317985.2 → NP_001304914.1  GTPase Era, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AK023342, BC019094, BM683046, BX384612, DA559976
      UniProtKB/Swiss-Prot
      O75616
      Conserved Domains (3) summary
      cd04163
      Location:112 → 326
      Era; E. coli Ras-like protein (Era) is a multifunctional GTPase
      COG1159
      Location:108 → 436
      Era; GTPase Era, involved in 16S rRNA processing [Translation, ribosomal structure and biogenesis]
      cd00105
      Location:386 → 415
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

    2. NM_001317986.2 → NP_001304915.1  GTPase Era, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC024267, AK023342, BC019094, BI758329, BM683046, DA559976
      UniProtKB/Swiss-Prot
      O75616
      Conserved Domains (3) summary
      cd04163
      Location:112 → 245
      Era; E. coli Ras-like protein (Era) is a multifunctional GTPase
      COG1159
      Location:108 → 354
      Era; GTPase Era, involved in 16S rRNA processing [Translation, ribosomal structure and biogenesis]
      cd00105
      Location:304 → 333
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

    3. NM_005702.4 → NP_005693.1  GTPase Era, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_005693.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC019094, BM683046, DA559976
      Consensus CDS
      CCDS11244.1
      UniProtKB/Swiss-Prot
      B3KN21, C9JEC6, O75616, O75617, Q8WUY4, Q96LE2, Q96TC0
      Related
      ENSP00000254928.5, ENST00000254928.10
      Conserved Domains (1) summary
      cl26333
      Location:108 → 437
      FeoB_N; Ferrous iron transport protein B

    RNA

    1. NR_134328.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction at the 3' end of an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF082658, AK023342, BC019094, BM683046, DA559976
      Related
      ENST00000461894.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      28855016..28861061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29797789..29803834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75616.2 GenPept UniProtKB/Swiss-Prot:O75616

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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