ERAL1

Protein identityUniProt · HPA

UniProt accession

O75616

Gene

ERAL1

Ensembl

ENSG00000132591

Chromosome

17

Canonical length

437 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>O75616|ERAL1
     1  MAAPSWRGAR LVQSVLRVWQ VGPHVARERV IPFSSLLGFQ RRCVSCVAGS AFSGPRLASA
    61  SRSNGQGSAL DHFLGFSQPD SSVTPCVPAV SMNRDEQDVL LVHHPDMPEN SRVLRVVLLG
   121  APNAGKSTLS NQLLGRKVFP VSRKVHTTRC QALGVITEKE TQVILLDTPG IISPGKQKRH
   181  HLELSLLEDP WKSMESADLV VVLVDVSDKW TRNQLSPQLL RCLTKYSQIP SVLVMNKVDC
   241  LKQKSVLLEL TAALTEGVVN GKKLKMRQAF HSHPGTHCPS PAVKDPNTQS VGNPQRIGWP
   301  HFKEIFMLSA LSQEDVKTLK QYLLTQAQPG PWEYHSAVLT SQTPEEICAN IIREKLLEHL
   361  PQEVPYNVQQ KTAVWEEGPG GELVIQQKLL VPKESYVKLL IGPKGHVISQ IAQEAGHDLM
   421  DIFLCDVDIR LSVKLLK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERAL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

53 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERAL1.

Disease | AllUniProt

Conditions ERAL1 is implicated in, by any mechanism.

• Perrault syndrome 6 (PRLTS6) MIM:617565

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 77 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Perrault syndrome 6
• Perrault syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.02

gnomAD pLI

0

gnomAD missense Z

0.36

DepMap mean gene effect

-0.39

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial small ribosomal subunit assembly
• ribosomal small subunit assembly

Molecular functions

• GTP binding
• ribosomal small subunit binding
• RNA binding
• RNA folding chaperone
• rRNA binding

Cellular components

• cytosol
• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Small GTP-binding domain
• GTP binding domain
• K homology domain superfamily, prokaryotic type
• K homology domain-like, alpha/beta
• P-loop containing nucleoside triphosphate hydrolase
• 50S ribosome-binding GTPase
• GTPase Era-like
• Era-type guanine nucleotide-binding (G) domain

KeywordsUniProt

• Deafness
• GTP-binding
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Nucleotide-binding
• Phosphoprotein
• Ribosome biogenesis
• RNA-binding
• rRNA-binding
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ERAL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MRPS26