FASTKD5
entrez
60493
canonical
uniprot
Q7L8L6
canonical
ensembl
ENSG00000215251
resolver
ensp
ENSP00000369618
resolver
ensp
ENSP00000510038
resolver
ensp
ENSP00000510078
resolver
ensp
ENSP00000510780
resolver
enst
ENST00000380266
resolver
enst
ENST00000687419
resolver
enst
ENST00000688674
resolver
enst
ENST00000692371
resolver
genesymbol
FASTKD5
resolver
genesymbol_syn
KIAA1792
resolver
hgnc
HGNC:25790
resolver
uniprot
Q96JN3
resolver
uniprot
Q9H5D1
resolver
uniprot
Q9H8Y3
resolver
uniprot_entry
FAKD5_HUMAN
resolver
uniprot_sec
Q96JN3
resolver
uniprot_sec
Q9H5D1
resolver
uniprot_sec
Q9H8Y3
resolver
amino_acid_sequence
MAATLKSLKLVRYRAFCSPSAFGAVRSVSYWNVSSTQHGGQDPPEHISLCHSAKKVKNICSTFSSRRILTTSSAHPGLEFSKTSSSKASTLQLGSPRATGVDEEDVEVFDSFENMRVFLQLRPEYRVHSYNASETSQLLSVSEGELILHKVRVNQNNLQAQVIVDYLCKLSSLPAEQHPVLLGSTSFALLCQLSVKKIQLFDTQDLINVLKAFVILGIPHSHSMLDVYETKCCHQVWEMNMDQLLLVADLWRYLGRKVPRFLNIFSSYLNLHWKDLSLSQLVHLIYVIGENRQVSQDLMQKLESLILKYIDLINLEEVGTICLGFFKSSTNLSEFVMRKIGDLACANIQHLSSRSLVNIVKMFRFTHVDHINFMKQIGEIAPQRIPSLGVQGVMHLTLYCSALRFLNEGVMNAVAASLPPRVAHCRSKDVAKILWSFGTLNYKPPNAEEFYSSLISEIHRKMPEFNQYPEHLPTCLLGLAFLEYFPVELIDFALSPGFVRLAQERTKFDLLKELYTLDGTVGIECPDYRGNRLSTHLQQEGSELLWYLAEKDMNSKPEFLETVFLLETMLGGPQYVKHHMILPHTRSSDLEVQLDVNLKPLPFNREATPAENVAKLRLEHVGVSLTDDLMNKLLKGKARGHFQGKTESEPGQQPMELENKAAVPLGGFLCNVADKSGAMEMAGLCPAACMQTPRMKLAVQFTNRNQYCYGSRDLLGLHNMKRRQLARLGYRVVELSYWEWLPLLKRTRLEKLAFLHEKVFTSAL
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 24 (MC4DN24) [MIM:621431]: A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN24 is an autosomal recessive, neurodegenerative form characterized by lesions in the brainstem and basal ganglia, variable age at onset and severity, failure to thrive, global developmental delay or regression in infants and cognitive-motor slowing and reduced visual acuity in adults. Death in childhood may occur. {ECO:0000269|PubMed:40499538, ECO:0000269|PubMed:40637235}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.27.-
uniprot
proteins
function
FUNCTION: Required for the processing of non-canonical mitochondrial pre-mRNAs within the primary mitochondrial polycistronic transcript, i.e. pre-mRNA sequences that are not flanked by tRNA (tRNA punctuation) (PubMed:25683715, PubMed:40499538, PubMed:40637235). Has endoribonuclease activity and processes MT-CO1, MT-CO3 and MT-CYB pre-mRNAs, generating products with 3'/2'-phosphate or a 2',3'-cyclic phosphodiester at the 3'-end (PubMed:40637235). {ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:40499538, ECO:0000269|PubMed:40637235}.
uniprot
proteins
mass_dalton
86574
uniprot
proteins
mutagenesis
MUTAGEN 249; /note="D->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 317; /note="E->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 326; /note="F->A: Impairs MT-CO1 pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 327; /note="K->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 361; /note="K->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 364; /note="R->A: Impairs MT-CO1 pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 395; /note="H->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 426; /note="R->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 428; /note="K->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 429; /note="D->A,N: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 429; /note="D->N: Loss of endoribonuclease activity toward synthetic MT-CO1, MT-CO3 and MT-CYB pre-mRNA substrates. Does not affect RNA binding."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 432; /note="K->A: Impairs MT-CO1 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 528; /note="Y->A: Impairs MT-CO1 pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 556; /note="K->A: Impairs MT-CO1 pre-mRNA processing. No effect on MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 558; /note="E->A: No effect on MT-CO1, MT-CO3 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 578; /note="H->A: Impairs MT-CO1 pre-mRNA processing. No effect on MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 589; /note="D->A: Impairs MT-CO1, MT-CO3 and MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 591; /note="E->A: Impairs MT-CO1 pre-mRNA processing. No effect on MT-CYB pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 721; /note="K->A: Impairs MT-CO1 pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235"; MUTAGEN 723; /note="R->A: Impairs MT-CO1 pre-mRNA processing."; /evidence="ECO:0000269|PubMed:40637235
uniprot
proteins
protein_family
FAST kinase family
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20869947
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25683715
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
40499538
uniprot
proteins
pubmed
40637235
uniprot
proteins
pubmed
41160903
uniprot
proteins
sequence_length
764
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:20869947, ECO:0000269|PubMed:25683715}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269|PubMed:25683715}.
uniprot
proteins