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

Summary

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: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (28855016..28861061)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (29797789..29803834)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (27182034..27188079)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mitochondrial protein ERAL1 suppresses RNA virus infection by facilitating RIG-I-like receptor signaling.
Title: The mitochondrial protein ERAL1 suppresses RNA virus infection by facilitating RIG-I-like receptor signaling.
Three women from three different families presented with signs of PS, including deafness and ovarian dysgenesis. We employed exome sequencing and identified a homozygous missense mutation in the ERAL1 gene, c.707A > T. The mutation leads to a damaging p.Asn236Ile substitution that is likely to interfere with the GTP binding capacity of the ERAL1 protein.
Title: A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Data show that loss of ERAL1 leads to rapid decay of nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA chaperone.
Title: Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit.

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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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH10596 (e-PCR)
- UniSTS:85543

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D17S1422E (e-PCR)
- UniSTS:150464

G19792 (e-PCR)
- UniSTS:16836

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	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	HTP more info	PubMed
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)

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 ...
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 ...
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

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