DHX37
entrez
57647
canonical
uniprot
Q8IY37
canonical
ensembl
ENSG00000150990
resolver
ensp
ENSP00000311135
resolver
ensp
ENSP00000439009
resolver
ensp
ENSP00000643196
resolver
enst
ENST00000308736
resolver
genesymbol
DHX37
resolver
genesymbol_syn
DDX37
resolver
genesymbol_syn
KIAA1517
resolver
hgnc
HGNC:17210
resolver
uniprot
Q9BUI7
resolver
uniprot
Q9P211
resolver
uniprot_entry
DHX37_HUMAN
resolver
uniprot_sec
Q9BUI7
resolver
uniprot_sec
Q9P211
resolver
amino_acid_sequence
MGKLRRRYNIKGRQQAGPGPSKGPPEPPPVQLELEDKDTLKGVDASNALVLPGKKKKKTKAPPLSKKEKKPLTKKEKKVLQKILEQKEKKSQRAEMLQKLSEVQASEAEMRLFYTTSKLGTGNRMYHTKEKADEVVAPGQEKISSLSGAHRKRRRWPSAEEEEEEEEESESELEEESELDEDPAAEPAEAGVGTTVAPLPPAPAPSSQPVPAGMTVPPPPAAAPPLPRALAKPAVFIPVNRSPEMQEERLKLPILSEEQVIMEAVAEHPIVIVCGETGSGKTTQVPQFLYEAGFSSEDSIIGVTEPRRVAAVAMSQRVAKEMNLSQRVVSYQIRYEGNVTEETRIKFMTDGVLLKEIQKDFLLLRYKVVIIDEAHERSVYTDILIGLLSRIVTLRAKRNLPLKLLIMSATLRVEDFTQNPRLFAKPPPVIKVESRQFPVTVHFNKRTPLEDYSGECFRKVCKIHRMLPAGGILVFLTGQAEVHALCRRLRKAFPPSRARPQEKDDDQKDSVEEMRKFKKSRARAKKARAEVLPQINLDHYSVLPAGEGDEDREAEVDEEEGALDSDLDLDLGDGGQDGGEQPDASLPLHVLPLYSLLAPEKQAQVFKPPPEGTRLCVVATNVAETSLTIPGIKYVVDCGKVKKRYYDRVTGVSSFRVTWVSQASADQRAGRAGRTEPGHCYRLYSSAVFGDFEQFPPPEITRRPVEDLILQMKALNVEKVINFPFPTPPSVEALLAAEELLIALGALQPPQKAERVKQLQENRLSCPITALGRTMATFPVAPRYAKMLALSRQHGCLPYAITIVASMTVRELFEELDRPAASDEELTRLKSKRARVAQMKRTWAGQGASLKLGDLMVLLGAVGACEYASCTPQFCEANGLRYKAMMEIRRLRGQLTTAVNAVCPEAELFVDPKMQPPTESQVTYLRQIVTAGLGDHLARRVQSEEMLEDKWRNAYKTPLLDDPVFIHPSSVLFKELPEFVVYQEIVETTKMYMKGVSSVEVQWIPALLPSYCQFDKPLEEPAPTYCPERGRVLCHRASVFYRVGWPLPAIEVDFPEGIDRYKHFARFLLEGQVFRKLASYRSCLLSSPGTMLKTWARLQPRTESLLRALVAEKADCHEALLAAWKKNPKYLLAEYCEWLPQAMHPDIEKAWPPTTVH
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731]: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies. {ECO:0000269|PubMed:26539891, ECO:0000269|PubMed:31256877}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: 46,XY sex reversal 11 (SRXY11) [MIM:273250]: An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. {ECO:0000269|PubMed:31287541, ECO:0000269|PubMed:31337883}. 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: ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles (PubMed:30582406). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably also plays a role in brain development (PubMed:31256877). {ECO:0000269|PubMed:30582406, ECO:0000269|PubMed:31256877, ECO:0000269|PubMed:31287541, ECO:0000269|PubMed:31337883, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
129545
uniprot
proteins
mutagenesis
MUTAGEN 282; /note="T->A: Impairs the catalytic activity of the helicase."; /evidence="ECO:0000269|PubMed:30582406
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
protein_family
DEAH subfamily
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26539891
uniprot
proteins
pubmed
30582406
uniprot
proteins
pubmed
31256877
uniprot
proteins
pubmed
31287541
uniprot
proteins
pubmed
31337883
uniprot
proteins
pubmed
34516797
uniprot
proteins
sequence_length
1157
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:30582406, ECO:0000269|PubMed:31337883, ECO:0000269|PubMed:34516797}. Cytoplasm {ECO:0000269|PubMed:31337883}. Nucleus membrane {ECO:0000269|PubMed:31337883}.
uniprot
proteins