GTPBP2
entrez
54676
canonical
uniprot
Q9BX10
canonical
ensembl
ENSG00000172432
resolver
ensp
ENSP00000303997
resolver
ensp
ENSP00000304893
resolver
genesymbol
GTPBP2
resolver
hgnc
HGNC:4670
resolver
uniprot
A8K2K2
resolver
uniprot
Q5T7E8
resolver
uniprot
Q8ND84
resolver
uniprot
Q8TAH7
resolver
uniprot
Q8WUA5
resolver
uniprot
Q9HCS9
resolver
uniprot
Q9NRU4
resolver
uniprot
Q9NX60
resolver
uniprot_entry
A8K2K2_HUMAN
resolver
uniprot_entry
GTPB2_HUMAN
resolver
uniprot_sec
Q5T7E8
resolver
uniprot_sec
Q8ND84
resolver
uniprot_sec
Q8TAH7
resolver
uniprot_sec
Q8WUA5
resolver
uniprot_sec
Q9HCS9
resolver
uniprot_sec
Q9NRU4
resolver
uniprot_sec
Q9NX60
resolver
amino_acid_sequence
MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLPPEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYSDSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANMGF
uniprot
proteins
disease_involvement
DISEASE: Jaberi-Elahi syndrome (JABELS) [MIM:617988]: An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum. {ECO:0000269|PubMed:26675814, ECO:0000269|PubMed:29449720, ECO:0000269|PubMed:30790272, ECO:0000269|PubMed:38118446}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the rescue of ribosome stalling due to the presence of non-functional tRNA (By similarity). Has very low GTP-binding activity (PubMed:30108131). {ECO:0000250|UniProtKB:Q3UJK4, ECO:0000269|PubMed:30108131}.
uniprot
proteins
mass_dalton
65768
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
GTPBP1 subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
10833435
uniprot
proteins
pubmed
11054535
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
26675814
uniprot
proteins
pubmed
29449720
uniprot
proteins
pubmed
30108131
uniprot
proteins
pubmed
30790272
uniprot
proteins
pubmed
38118446
uniprot
proteins
sequence_length
602
uniprot
proteins