Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26284
Gene name	Era like 12S mitochondrial rRNA chaperone 1
Gene symbol	ERAL1
Synonyms (NCBI Gene)	CEGAERAERA-WERAL1AERAL1BH-ERAHERA-AHERA-BPRLTS6
Chromosome	17
Chromosome location	17q11.2
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. Deleti

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692170	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045561	hsa-miR-149-5p	CLASH	23622248
MIRT044074	hsa-miR-361-5p	CLASH	23622248
MIRT967702	hsa-miR-1207-3p	CLIP-seq
MIRT967703	hsa-miR-1207-5p	CLIP-seq
MIRT967704	hsa-miR-1285	CLIP-seq
MIRT967705	hsa-miR-185	CLIP-seq
MIRT967706	hsa-miR-1972	CLIP-seq
MIRT967707	hsa-miR-3187-5p	CLIP-seq
MIRT967708	hsa-miR-3199	CLIP-seq
MIRT967709	hsa-miR-342-5p	CLIP-seq
MIRT967710	hsa-miR-3674	CLIP-seq
MIRT967711	hsa-miR-3677-5p	CLIP-seq
MIRT967712	hsa-miR-3918	CLIP-seq
MIRT967713	hsa-miR-3944-5p	CLIP-seq
MIRT967714	hsa-miR-4306	CLIP-seq
MIRT967715	hsa-miR-4435	CLIP-seq
MIRT967716	hsa-miR-4640-5p	CLIP-seq
MIRT967717	hsa-miR-4644	CLIP-seq
MIRT967718	hsa-miR-4651	CLIP-seq
MIRT967719	hsa-miR-4664-5p	CLIP-seq
MIRT967720	hsa-miR-4726-5p	CLIP-seq
MIRT967721	hsa-miR-4755-3p	CLIP-seq
MIRT967722	hsa-miR-4763-3p	CLIP-seq
MIRT967723	hsa-miR-608	CLIP-seq
MIRT967724	hsa-miR-612	CLIP-seq
MIRT967706	hsa-miR-1972	CLIP-seq
MIRT967711	hsa-miR-3677-5p	CLIP-seq
MIRT967715	hsa-miR-4435	CLIP-seq
MIRT967721	hsa-miR-4755-3p	CLIP-seq
MIRT1986715	hsa-miR-510	CLIP-seq
MIRT2221193	hsa-miR-1	CLIP-seq
MIRT2221194	hsa-miR-1202	CLIP-seq
MIRT967703	hsa-miR-1207-5p	CLIP-seq
MIRT2221195	hsa-miR-146b-3p	CLIP-seq
MIRT2221196	hsa-miR-1827	CLIP-seq
MIRT967705	hsa-miR-185	CLIP-seq
MIRT967706	hsa-miR-1972	CLIP-seq
MIRT2221197	hsa-miR-199a-3p	CLIP-seq
MIRT2221198	hsa-miR-199b-3p	CLIP-seq
MIRT2221199	hsa-miR-206	CLIP-seq
MIRT2221200	hsa-miR-2110	CLIP-seq
MIRT2221201	hsa-miR-3074-5p	CLIP-seq
MIRT2221202	hsa-miR-3129-5p	CLIP-seq
MIRT2221203	hsa-miR-3135b	CLIP-seq
MIRT2221204	hsa-miR-3150a-3p	CLIP-seq
MIRT2221205	hsa-miR-3160-3p	CLIP-seq
MIRT2221206	hsa-miR-3173-5p	CLIP-seq
MIRT2221207	hsa-miR-3175	CLIP-seq
MIRT2221208	hsa-miR-3192	CLIP-seq
MIRT2221209	hsa-miR-3194-5p	CLIP-seq
MIRT2221210	hsa-miR-3197	CLIP-seq
MIRT967709	hsa-miR-342-5p	CLIP-seq
MIRT2221211	hsa-miR-3612	CLIP-seq
MIRT2221212	hsa-miR-365	CLIP-seq
MIRT2221213	hsa-miR-3664-3p	CLIP-seq
MIRT2221214	hsa-miR-3673	CLIP-seq
MIRT967711	hsa-miR-3677-5p	CLIP-seq
MIRT2221215	hsa-miR-3689a-3p	CLIP-seq
MIRT2221216	hsa-miR-3689c	CLIP-seq
MIRT967712	hsa-miR-3918	CLIP-seq
MIRT2221217	hsa-miR-3972	CLIP-seq
MIRT2221218	hsa-miR-4255	CLIP-seq
MIRT2221219	hsa-miR-4292	CLIP-seq
MIRT2221220	hsa-miR-4302	CLIP-seq
MIRT967714	hsa-miR-4306	CLIP-seq
MIRT2221221	hsa-miR-4433	CLIP-seq
MIRT967715	hsa-miR-4435	CLIP-seq
MIRT2221222	hsa-miR-4443	CLIP-seq
MIRT2221223	hsa-miR-4459	CLIP-seq
MIRT2221224	hsa-miR-4468	CLIP-seq
MIRT2221225	hsa-miR-4487	CLIP-seq
MIRT2221226	hsa-miR-4530	CLIP-seq
MIRT967716	hsa-miR-4640-5p	CLIP-seq
MIRT967717	hsa-miR-4644	CLIP-seq
MIRT967718	hsa-miR-4651	CLIP-seq
MIRT967719	hsa-miR-4664-5p	CLIP-seq
MIRT2221227	hsa-miR-4697-3p	CLIP-seq
MIRT2221228	hsa-miR-4722-3p	CLIP-seq
MIRT967720	hsa-miR-4726-5p	CLIP-seq
MIRT2221229	hsa-miR-4728-5p	CLIP-seq
MIRT967721	hsa-miR-4755-3p	CLIP-seq
MIRT967722	hsa-miR-4763-3p	CLIP-seq
MIRT2221230	hsa-miR-4768-3p	CLIP-seq
MIRT2221231	hsa-miR-4777-3p	CLIP-seq
MIRT1986715	hsa-miR-510	CLIP-seq
MIRT2221232	hsa-miR-558	CLIP-seq
MIRT967723	hsa-miR-608	CLIP-seq
MIRT2221233	hsa-miR-613	CLIP-seq
MIRT2221234	hsa-miR-646	CLIP-seq
MIRT2221235	hsa-miR-650	CLIP-seq
MIRT2221236	hsa-miR-874	CLIP-seq
MIRT2221237	hsa-miR-936	CLIP-seq
MIRT2221238	hsa-miR-939	CLIP-seq
MIRT2221239	hsa-miR-940	CLIP-seq
MIRT2524902	hsa-miR-1224-3p	CLIP-seq
MIRT2524903	hsa-miR-1260	CLIP-seq
MIRT2524904	hsa-miR-1260b	CLIP-seq
MIRT2524905	hsa-miR-1280	CLIP-seq
MIRT2524906	hsa-miR-4529-5p	CLIP-seq
MIRT967716	hsa-miR-4640-5p	CLIP-seq
MIRT967720	hsa-miR-4726-5p	CLIP-seq
MIRT2524907	hsa-miR-4778-3p	CLIP-seq
MIRT2524908	hsa-miR-532-3p	CLIP-seq
MIRT2524902	hsa-miR-1224-3p	CLIP-seq
MIRT2524903	hsa-miR-1260	CLIP-seq
MIRT2524904	hsa-miR-1260b	CLIP-seq
MIRT2524905	hsa-miR-1280	CLIP-seq
MIRT2524906	hsa-miR-4529-5p	CLIP-seq
MIRT967716	hsa-miR-4640-5p	CLIP-seq
MIRT967720	hsa-miR-4726-5p	CLIP-seq
MIRT2524907	hsa-miR-4778-3p	CLIP-seq
MIRT2524908	hsa-miR-532-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000028	Process	Ribosomal small subunit assembly	IBA
GO:0000028	Process	Ribosomal small subunit assembly	IMP	20604745, 28449065
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	20604745
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0016020	Component	Membrane	IEA
GO:0019843	Function	RRNA binding	IBA
GO:0019843	Function	RRNA binding	IDA	20604745
GO:0019843	Function	RRNA binding	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0043024	Function	Ribosomal small subunit binding	IBA
GO:0043024	Function	Ribosomal small subunit binding	IDA	20604745

MIM	HGNC	e!Ensembl
607435	3424	ENSG00000132591

O75616

Protein name

GTPase Era, mitochondrial (H-ERA) (hERA) (Conserved ERA-like GTPase) (CEGA) (ERA-W) (ERA-like protein 1)

Protein 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

PDB

8CSP , 8CSQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01926	MMR_HSR1	115 → 237	50S ribosome-binding GTPase	Family

Sequence

MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASA
SRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLG
APNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRH
HLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKVDC
LKQKSVLLELTAALTEGVVNGKKLKMRQAFHSHPGTHCPSPAVKDPNTQSVGNPQRIGWP
HFKEIFMLSALSQEDVKTLKQYLLTQAQPGPWEYHSAVLTSQTPEEICANIIREKLLEHL
PQEVPYNVQQKTAVWEEGPGGELVIQQKLLVPKESYVKLLIGPKGHVISQIAQEAGHDLM
DIFLCDVDIRLSVKLLK

Sequence length

437

Interactions

View interactions

	Reactome
			Mitochondrial translation elongation Mitochondrial translation termination

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Perrault syndrome	Pathogenic	rs1131692170	RCV002527117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome 6	Pathogenic	rs1131692170	RCV000494893	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ERAL1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis	Arthritis	BEFREE	30762291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31327053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30711959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30261866, 30711959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22370157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	29253590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28396733, 28584624, 29423194, 29423210, 31583095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28339949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	28449065		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	ORPHANET_DG	28449065		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	20430825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28157814, 28340239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	19565513, 26305060, 28241879, 30762291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16820371, 26908832, 31598700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28396733, 28584624, 29423194, 29423210, 31583095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11168443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30261866, 30711959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20430825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29283052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28882441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	16735942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perrault syndrome	Perrault Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PERRAULT SYNDROME 6	Perrault Syndrome	GENOMICS_ENGLAND_DG	28449065		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PERRAULT SYNDROME 6	Perrault Syndrome	UNIPROT_DG	28449065		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PERRAULT SYNDROME 6	Perrault Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	26908832, 27325254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25709077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	27682355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30122544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30122544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	29570260		★★★★★ ★☆☆☆☆ Found in Text Mining only

ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)