FASTKD2
entrez
22868
canonical
uniprot
Q9NYY8
canonical
ensembl
ENSG00000118246
resolver
ensp
ENSP00000236980
resolver
ensp
ENSP00000384929
resolver
ensp
ENSP00000385990
resolver
genesymbol
FASTKD2
resolver
genesymbol_syn
KIAA0971
resolver
hgnc
HGNC:29160
resolver
uniprot
Q9NVX6
resolver
uniprot
Q9Y2H7
resolver
uniprot_entry
FAKD2_HUMAN
resolver
uniprot_sec
Q9NVX6
resolver
uniprot_sec
Q9Y2H7
resolver
amino_acid_sequence
MLTTLKPFGSVSVESKMNNKAGSFFWNLRQFSTLVSTSRTMRLCCLGLCKPKIVHSNWNILNNFHNRMQSTDIIRYLFQDAFIFKSDVGFQTKGISTLTALRIERLLYAKRLFFDSKQSLVPVDKSDDELKKVNLNHEVSNEDVLTKETKPNRISSRKLSEECNSLSDVLDAFSKAPTFPSSNYFTAMWTIAKRLSDDQKRFEKRLMFSHPAFNQLCEHMMREAKIMQYKYLLFSLHAIVKLGIPQNTILVQTLLRVTQERINECDEICLSVLSTVLEAMEPCKNVHVLRTGFRILVDQQVWKIEDVFTLQVVMKCIGKDAPIALKRKLEMKALRELDRFSVLNSQHMFEVLAAMNHRSLILLDECSKVVLDNIHGCPLRIMINILQSCKDLQYHNLDLFKGLADYVAATFDIWKFRKVLFILILFENLGFRPVGLMDLFMKRIVEDPESLNMKNILSILHTYSSLNHVYKCQNKEQFVEVMASALTGYLHTISSENLLDAVYSFCLMNYFPLAPFNQLLQKDIISELLTSDDMKNAYKLHTLDTCLKLDDTVYLRDIALSLPQLPRELPSSHTNAKVAEVLSSLLGGEGHFSKDVHLPHNYHIDFEIRMDTNRNQVLPLSDVDTTSATDIQRVAVLCVSRSAYCLGSSHPRGFLAMKMRHLNAMGFHVILVNNWEMDKLEMEDAVTFLKTKIYSVEALPVAAVNVQSTQ
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 44 (COXPD44) [MIM:618855]: An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid. {ECO:0000269|PubMed:18771761, ECO:0000269|PubMed:28499982, ECO:0000269|PubMed:31944455}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:25683715, PubMed:26370583, PubMed:27667664). May play a role in mitochondrial apoptosis. {ECO:0000269|PubMed:18771761, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:26370583, ECO:0000269|PubMed:27667664}.
uniprot
proteins
mass_dalton
81463
uniprot
proteins
protein_family
FAST kinase family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18771761
uniprot
proteins
pubmed
20869947
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25683715
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26370583
uniprot
proteins
pubmed
27667664
uniprot
proteins
pubmed
28499982
uniprot
proteins
pubmed
31944455
uniprot
proteins
sequence_length
710
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:20869947, ECO:0000269|PubMed:25683715}. Mitochondrion matrix {ECO:0000305|PubMed:18771761}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269|PubMed:25683715}.
uniprot
proteins