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
External Ids for ERAL1 Gene
- HGNC: 3424
- Entrez Gene: 26284
- Ensembl: ENSG00000132591
- OMIM: 607435
- UniProtKB: O75616
Previous GeneCards Identifiers for ERAL1 Gene
- GC17P027027
- GC17P029081
- GC17P027327
- GC17P024206
- GC17P027182
- GC17P023390
Summaries 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
- Monarch Initiative
- Search for ERAL1 at DataMed
- Search for ERAL1 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ERAL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 17q11.2 by Ensembl
- 17q11.2 by Entrez Gene
- 17q11.2 by HGNC
ERAL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ERAL1 Gene
Post-translational modifications for ERAL1 Gene
Other Protein References for ERAL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ERAL1
- Invitrogen Antibodies for ERAL1
- GeneTex ERAL1 antibody for ERAL1
Protein Products
-
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-
Abcam proteins for ERAL1
Assay Products
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
Protein Domains for ERAL1 Gene
Suggested Antigen Peptide Sequences for ERAL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O75616UniProtKB/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.
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
| 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 |
Phenotypes for ERAL1 Gene
- GenomeRNAi human phenotypes for ERAL1:
Animal Model Products
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miRNA for ERAL1 Gene
- miRTarBase miRNAs that target ERAL1
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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Cell Line Products
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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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| nucleus | 1 |
- Cytosol (4)
- Mitochondria (4)
| 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 | -- |
Pathways & Interactions for ERAL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mitochondrial translation | ||
| 2 | Organelle biogenesis and maintenance | ||
| 3 | Integrated Breast Cancer Pathway | ||
Pathways by source for ERAL1 Gene
1 BioSystems pathway for ERAL1 Gene
Interacting Proteins for ERAL1 Gene
Selected Interacting proteins:
O75616-ERAL1_HUMAN
ENSP00000254928
for ERAL1 Gene via
IID
STRING
MINT
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for ERAL1 Gene
Drugs & Compounds for ERAL1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
Transcripts for ERAL1 Gene
mRNA/cDNA for ERAL1 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (401) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ERAL1 Gene
CRISPR Products
-
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-
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for ERAL1 gene
Clone Products
- Sino Biological Human cDNA Clone for ERAL1
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ERAL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||
| SP7: |
Expression 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:
ERAL1SOURCE GeneReport for Unigene cluster for ERAL1 Gene:
Hs.3426Evidence on tissue expression from TISSUES for ERAL1 Gene
- Nervous system(4.9)
- Intestine(4.5)
- Liver(3.4)
- Lung(2.4)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for ERAL1
-
OriGene qPCR primer pairs and template standards for ERAL1
Gene Expression Assay 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 , 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ERAL1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ERAL1 33 |
|
||
| cfa-mir-451 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | ERAL1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eral1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Eral1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ERAL1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ERAL1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ERAL1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ERAL1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100495069 33 |
|
||
| Str.11903 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | eral1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010622 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7488 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | E02H1.2 33 34 |
|
- 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)
Paralogs for ERAL1 Gene
No data available for Paralogs for ERAL1 Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3640315 | CNV | loss | 21293372 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERAL1 Gene
Disorders for ERAL1 Gene
(2) MalaCards diseases for ERAL1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| perrault syndrome 6 |
|
|
| perrault syndrome |
|
|
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
No data available for Genatlas for ERAL1 Gene
Publications for ERAL1 Gene
- 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
- 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
- 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
- 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
- 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
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 45 available Estrogen Receptor alpha Antibodies ranked by validation data
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Sources for ERAL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
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- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
