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Protein

GTPase Era, mitochondrial

Gene

ERAL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi120 – 127GTPSequence analysis8
Nucleotide bindingi167 – 171GTPSequence analysis5
Nucleotide bindingi236 – 239GTPSequence analysis4

GO - Molecular functioni

  • GTP binding Source: UniProtKB-KW
  • ribosomal small subunit binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • rRNA binding Source: UniProtKB

GO - Biological processi

  • mitochondrial translational elongation Source: Reactome
  • mitochondrial translational termination Source: Reactome
  • ribosomal small subunit assembly Source: UniProtKB

Keywordsi

Molecular functionRNA-binding, rRNA-binding
Biological processRibosome biogenesis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-5419276 Mitochondrial translation termination

Names & Taxonomyi

Protein namesi
Recommended name:
GTPase Era, mitochondrial
Short name:
H-ERA
Short name:
hERA
Alternative name(s):
Conserved ERA-like GTPase
Short name:
CEGA
ERA-W
ERA-like protein 1
Gene namesi
Name:ERAL1
Synonyms:HERA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000132591.11
HGNCiHGNC:3424 ERAL1
MIMi607435 gene
neXtProtiNX_O75616

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Perrault syndrome 6 (PRLTS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617565
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079209236N → I in PRLTS6; decreased protein abundance; reduced assembly of the mitochondrial ribosomal small subunit. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi26284
MalaCardsiERAL1
MIMi617565 phenotype
OpenTargetsiENSG00000132591
PharmGKBiPA27843

Polymorphism and mutation databases

BioMutaiERAL1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 43MitochondrionSequence analysisAdd BLAST43
ChainiPRO_000018008144 – 437GTPase Era, mitochondrialAdd BLAST394

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei173PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75616
MaxQBiO75616
PaxDbiO75616
PeptideAtlasiO75616
PRIDEiO75616

PTM databases

iPTMnetiO75616
PhosphoSitePlusiO75616

Expressioni

Gene expression databases

BgeeiENSG00000132591
CleanExiHS_ERAL1
ExpressionAtlasiO75616 baseline and differential
GenevisibleiO75616 HS

Organism-specific databases

HPAiHPA021425
HPA024423

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP44Q9C0F13EBI-6393536,EBI-744115

Protein-protein interaction databases

BioGridi117666, 37 interactors
IntActiO75616, 26 interactors
MINTiO75616
STRINGi9606.ENSP00000254928

Structurei

3D structure databases

ProteinModelPortaliO75616
SMRiO75616
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini112 – 330Era-type GAdd BLAST219
Domaini360 – 437KH type-2Add BLAST78

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1423 Eukaryota
COG1159 LUCA
GeneTreeiENSGT00390000013800
HOVERGENiHBG051495
InParanoidiO75616
KOiK03595
OMAiKVAKDWQ
OrthoDBiEOG091G0BPI
PhylomeDBiO75616
TreeFamiTF321650

Family and domain databases

CDDicd04163 Era, 1 hit
Gene3Di3.30.300.20, 1 hit
HAMAPiMF_00367 GTPase_Era, 1 hit
InterProiView protein in InterPro
IPR030388 G_ERA_dom
IPR005662 GTP-bd_Era
IPR006073 GTP_binding_domain
IPR015946 KH_dom-like_a/b
IPR009019 KH_sf_prok-type
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
PfamiView protein in Pfam
PF01926 MMR_HSR1, 1 hit
PRINTSiPR00326 GTP1OBG
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54814 SSF54814, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51713 G_ERA, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform HERA-A (identifier: O75616-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAPSWRGAR LVQSVLRVWQ VGPHVARERV IPFSSLLGFQ RRCVSCVAGS
60 70 80 90 100
AFSGPRLASA SRSNGQGSAL DHFLGFSQPD SSVTPCVPAV SMNRDEQDVL
110 120 130 140 150
LVHHPDMPEN SRVLRVVLLG APNAGKSTLS NQLLGRKVFP VSRKVHTTRC
160 170 180 190 200
QALGVITEKE TQVILLDTPG IISPGKQKRH HLELSLLEDP WKSMESADLV
210 220 230 240 250
VVLVDVSDKW TRNQLSPQLL RCLTKYSQIP SVLVMNKVDC LKQKSVLLEL
260 270 280 290 300
TAALTEGVVN GKKLKMRQAF HSHPGTHCPS PAVKDPNTQS VGNPQRIGWP
310 320 330 340 350
HFKEIFMLSA LSQEDVKTLK QYLLTQAQPG PWEYHSAVLT SQTPEEICAN
360 370 380 390 400
IIREKLLEHL PQEVPYNVQQ KTAVWEEGPG GELVIQQKLL VPKESYVKLL
410 420 430
IGPKGHVISQ IAQEAGHDLM DIFLCDVDIR LSVKLLK
Length:437
Mass (Da):48,350
Last modified:January 4, 2005 - v2
Checksum:i5C2454A1D9AFF5AA
GO
Isoform HERA-B (identifier: O75616-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     257-437: GVVNGKKLKM...DIRLSVKLLK → AIPSDTGPARALGVPQCSPH

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:276
Mass (Da):30,040
Checksum:i4D0A9F7F0D657072
GO

Sequence cautioni

The sequence AAG12978 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1M → V in AAC31603 (PubMed:10945472).Curated1
Sequence conflicti1M → V in AAC31604 (PubMed:10945472).Curated1
Sequence conflicti15V → A in AAC31603 (PubMed:10945472).Curated1
Sequence conflicti15V → A in AAC31604 (PubMed:10945472).Curated1
Sequence conflicti17 – 18RV → KI in AAG12978 (Ref. 3) Curated2
Sequence conflicti190P → T in BAB56112 (PubMed:11733036).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079209236N → I in PRLTS6; decreased protein abundance; reduced assembly of the mitochondrial ribosomal small subunit. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001453257 – 437GVVNG…VKLLK → AIPSDTGPARALGVPQCSPH in isoform HERA-B. 1 PublicationAdd BLAST181

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF082657 mRNA Translation: AAC31603.1
AF082658 mRNA Translation: AAC31604.1
AB049388 mRNA Translation: BAB56112.1
AY007435 mRNA Translation: AAG12978.1 Different initiation.
AK023342 mRNA Translation: BAG51183.1
AC024267 Genomic DNA No translation available.
CH471159 Genomic DNA Translation: EAW51147.1
BC019094 mRNA Translation: AAH19094.1
CCDSiCCDS11244.1 [O75616-1]
RefSeqiNP_001304914.1, NM_001317985.1
NP_001304915.1, NM_001317986.1
NP_005693.1, NM_005702.3 [O75616-1]
UniGeneiHs.3426

Genome annotation databases

EnsembliENST00000254928; ENSP00000254928; ENSG00000132591 [O75616-1]
GeneIDi26284
KEGGihsa:26284
UCSCiuc002hcy.2 human [O75616-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiERAL1_HUMAN
AccessioniPrimary (citable) accession number: O75616
Secondary accession number(s): B3KN21
, C9JEC6, O75617, Q8WUY4, Q96LE2, Q96TC0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 4, 2005
Last modified: May 23, 2018
This is version 154 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health