Entity Details

Primary name ERAL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75616
EntryNameERAL1_HUMAN
FullNameGTPase Era, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length437
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesERAL1

GO terms

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GOName
GO:0000028 ribosomal small subunit assembly
GO:0003723 RNA binding
GO:0005525 GTP binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0019843 rRNA binding
GO:0043024 ribosomal small subunit binding
GO:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR005225 Small GTP-binding protein domainDomainDomain
IPR005662 GTP-binding protein EraFamilyFamily
IPR006073 GTP binding domainDomainDomain
IPR009019 K homology domain superfamily, prokaryotic typeFamilyHomologous superfamily
IPR015946 K homology domain-like, alpha/betaFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030388 Era-type guanine nucleotide-binding (G) domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617565 OMIMPerrault syndrome 6 (PRLTS6)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. The disease is caused by variants affecting the gene represented in this entry.