DHX30
entrez
22907
canonical
uniprot
Q7L2E3
canonical
ensembl
ENSG00000132153
resolver
ensp
ENSP00000343442
resolver
ensp
ENSP00000394682
resolver
ensp
ENSP00000405620
resolver
ensp
ENSP00000483160
resolver
ensp
ENSP00000546667
resolver
ensp
ENSP00000546676
resolver
enst
ENST00000348968
resolver
genesymbol
DHX30
resolver
genesymbol_syn
DDX30
resolver
genesymbol_syn
KIAA0890
resolver
hgnc
HGNC:16716
resolver
uniprot
A8K5F1
resolver
uniprot
H7BXY3
resolver
uniprot
O94965
resolver
uniprot
Q7Z753
resolver
uniprot
Q96CH4
resolver
uniprot
Q9NUQ0
resolver
uniprot_entry
DHX30_HUMAN
resolver
uniprot_entry
H7BXY3_HUMAN
resolver
uniprot_sec
A8K5F1
resolver
uniprot_sec
O94965
resolver
uniprot_sec
Q7Z753
resolver
uniprot_sec
Q96CH4
resolver
uniprot_sec
Q9NUQ0
resolver
amino_acid_sequence
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSVIGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQLFKGWGLLGPRNELFDAAKYRVLADRFGSPADSWWRPEPTMPPTSWRQLNPESIRPGGPGGLSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAPLRDSRGSSFEMTDDDSAIRALTQFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTKLSTLTLLWPCPMTFVAKGRRKAEAENKAAALACKKLKSLGLVDRNNEPLTHAMYNLASLRELGETQRRPCTIQVPEPILRKIETFLNHYPVESSWIAPELRLQSDDILPLGKDSGPLSDPITGKPYVPLLEAEEVRLSQSLLELWRRRGPVWQEAPQLPVDPHRDTILNAIEQHPVVVISGDTGCGKTTRIPQLLLERYVTEGRGARCNVIITQPRRISAVSVAQRVSHELGPSLRRNVGFQVRLESKPPSRGGALLFCTVGILLRKLQSNPSLEGVSHVIVDEVHERDVNTDFLLILLKGLQRLNPALRLVLMSATGDNERFSRYFGGCPVIKVPGFMYPVKEHYLEDILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVLHIDARGEPGGILCFLPGWQEIKGVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQPPVGVRKIVLATNIAETSITINDIVHVVDSGLHKEERYDLKTKVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRSRLEKMVPFQVPEILRTPLENLVLQAKIHMPEKTAVEFLSKAVDSPNIKAVDEAVILLQEIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLLVVVSCLTRDPFSSSLQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSRENYLEENLLYAPSLRFIHGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLMAGLYPNLIQVRQGKVTRQGKFKPNSVTYRTKSGNILLHKSTINREATRLRSRWLTYFMAVKSNGSVFVRDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDLLRLEGDSRTVRLLKELRRALGRMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) [MIM:617804]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech impairment and gait abnormalities. {ECO:0000269|PubMed:28327206, ECO:0000269|PubMed:29100085}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
function
FUNCTION: RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity). {ECO:0000250|UniProtKB:Q5BJS0, ECO:0000250|UniProtKB:Q99PU8, ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:29100085}.
uniprot
proteins
mass_dalton
133938
uniprot
proteins
post_translational_modification
PTM: [Isoform 2]: Phosphorylated on Ser-15. {ECO:0007744|PubMed:18220336}.
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
protein_family
DEAH subfamily
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16825194
uniprot
proteins
pubmed
17932509
uniprot
proteins
pubmed
18063578
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25683715
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28327206
uniprot
proteins
pubmed
29100085
uniprot
proteins
sequence_length
1194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29100085}. Mitochondrion {ECO:0000269|PubMed:16825194, ECO:0000269|PubMed:29100085}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:16825194, ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:25683715}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids (PubMed:16825194, PubMed:25683715). Relocalizes to stress granules upon heat stress (PubMed:29100085). {ECO:0000269|PubMed:16825194, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:29100085}.
uniprot
proteins