Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
317781
Gene name Gene Name - the full gene name approved by the HGNC.
DEAD-box helicase 51
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDX51
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.33
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022177 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT618268 hsa-miR-6819-3p HITS-CLIP 23824327
MIRT618267 hsa-miR-6877-3p HITS-CLIP 23824327
MIRT618266 hsa-miR-8062 HITS-CLIP 23824327
MIRT618265 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003724 Function RNA helicase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8N8A6
Protein name ATP-dependent RNA helicase DDX51 (EC 3.6.4.13) (DEAD box protein 51)
Protein function ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 222 441 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 490 600 Helicase conserved C-terminal domain Family
Sequence
MALFYVARYPGPDAAAAAGPEGAEAGAHGRARALLERLQSRARERQQQREPAQTEAAAST
EPATRRRRRPRRRRRVNDAEPGSPEAPQGKRRKADGEDAGAESNEEAPGEPSAGSSEEAP
GEPSAGSSEEAPGERSTSASAEAAPDGPALEEAAGPLVPGLVLGGFGKRKAPKVQPFLPR
WLAEPNCVRRNVTEDLVPIEDIPDVHPDLQKQLRAHGISSYFPVQAAVIPALLESAACGF
LVGRGGYRPSDLCVSAPTGSGKTLAFVIPVVQALLSRVVCHIRALVVLPTKELAQQVSKV
FNIYTDATPLRVSLVTGQKSLAKEQESLVQKTADGYRCLADIVVATPGRLVDHIDQTPGF
SLQQLRFLIIDEADRMIDSMHQSWLPRVVAAAFQSEDPADPCALLQRRQAQAVTAASTCC
PQMPLQKLLFSATLTQNPEKL
QQLGLHQPRLFSTGLAHRGLEDTDGDGDSGKYAFPVGLT
HHYVPCSLSSKPLVVLHLVLEMGFSRVLCFTNSRENSHRLFLLVQAFGGVDVAEFSSRYG
PGQRRMILKQFEQGKIQLLISTDATARGIDVQGVELVVNYDAPQYLRTYVHRVGRTARAG

KTGQAFTLLLKVQERRFLRMLTEAGAPELQRHELSSKLLQPLVPRYEEALSQLEESVKEE
RKQRAA
Sequence length 666
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hirschsprung Disease Hirschsprung disease N/A N/A GWAS