ERAL1
entrez
26284
canonical
uniprot
O75616
canonical
ensembl
ENSG00000132591
resolver
ensp
ENSP00000254928
resolver
ensp
ENSP00000549005
resolver
ensp
ENSP00000589490
resolver
genesymbol
ERAL1
resolver
genesymbol_syn
HERA
resolver
hgnc
HGNC:3424
resolver
uniprot
B3KN21
resolver
uniprot
C9JEC6
resolver
uniprot
O75617
resolver
uniprot
Q8WUY4
resolver
uniprot
Q96LE2
resolver
uniprot
Q96TC0
resolver
uniprot_entry
ERAL1_HUMAN
resolver
uniprot_sec
B3KN21
resolver
uniprot_sec
C9JEC6
resolver
uniprot_sec
O75617
resolver
uniprot_sec
Q8WUY4
resolver
uniprot_sec
Q96LE2
resolver
uniprot_sec
Q96TC0
resolver
amino_acid_sequence
MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCVSCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLVHHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKETQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQLLRCLTKYSQIPSVLVMNKVDCLKQKSVLLELTAALTEGVVNGKKLKMRQAFHSHPGTHCPSPAVKDPNTQSVGNPQRIGWPHFKEIFMLSALSQEDVKTLKQYLLTQAQPGPWEYHSAVLTSQTPEEICANIIREKLLEHLPQEVPYNVQQKTAVWEEGPGGELVIQQKLLVPKESYVKLLIGPKGHVISQIAQEAGHDLMDIFLCDVDIRLSVKLLK
uniprot
proteins
disease_involvement
DISEASE: Perrault syndrome 6 (PRLTS6) [MIM:617565]: 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. {ECO:0000269|PubMed:28449065}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly. {ECO:0000269|PubMed:20430825, ECO:0000269|PubMed:20604745, ECO:0000269|PubMed:28449065}.
uniprot
proteins
mass_dalton
48350
uniprot
proteins
protein_family
Era GTPase family
uniprot
proteins
protein_family
TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily
uniprot
proteins
pubmed
10945472
uniprot
proteins
pubmed
11733036
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20430825
uniprot
proteins
pubmed
20604745
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28449065
uniprot
proteins
sequence_length
437
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix. Mitochondrion inner membrane; Peripheral membrane protein. Note=Localizes on the matrix side on the mitochondrial inner membrane.
uniprot
proteins