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

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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

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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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Perrault syndrome	Pathogenic	rs1131692170	RCV002527117
Perrault syndrome 6	Pathogenic	rs1131692170	RCV000494893

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ERAL1-related disorder	Benign; Likely benign	rs376341769, rs139024598, rs201357781, rs114192384, rs144746939, rs145551568, rs373742961	RCV003941721 RCV003944427 RCV003957133 RCV003971402 RCV003946930 RCV003979233 RCV003969816
Hearing impairment	Uncertain significance	rs2152642391	RCV002086729

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	22370157
Growth Disorders	Associate	20430825
Inflammation	Associate	19584059
Mitochondrial Diseases	Associate	20430825

ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)