Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9416
Gene name Gene Name - the full gene name approved by the HGNC.
DEAD-box helicase 23
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDX23
Synonyms (NCBI Gene) Gene synonyms aliases
PRPF28, SNRNP100, U5-100K, U5-100KD, prp28
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA second
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050352 hsa-miR-25-3p CLASH 23622248
MIRT048936 hsa-miR-92a-3p CLASH 23622248
MIRT045430 hsa-miR-149-5p CLASH 23622248
MIRT044348 hsa-miR-106b-5p CLASH 23622248
MIRT044059 hsa-miR-361-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000354 Process Cis assembly of pre-catalytic spliceosome IC 9539711
GO:0000375 Process RNA splicing, via transesterification reactions TAS 9409622
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612172 17347 ENSG00000174243
Protein
UniProt ID Q9BUQ8
Protein name Probable ATP-dependent RNA helicase DDX23 (EC 3.6.4.13) (100 kDa U5 snRNP-specific protein) (DEAD box protein 23) (PRP28 homolog) (U5-100kD)
Protein function Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation (PubMed:18425142). Independently of its spliceosome formation function, required for the suppression of incorrect R-loops forme
PDB 3JCR , 4NHO , 6AH0 , 6QW6 , 6QX9 , 8H6E , 8H6J , 8Q7W , 8Q7X , 8Q91 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPK , 8QXD , 8R08 , 8R09 , 8R0A , 8R0B , 8RC0 , 8RM5 , 8Y6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 415 616 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 650 759 Helicase conserved C-terminal domain Family
Sequence
MAGELADKKDRDASPSKEERKRSRTPDRERDRDRDRKSSPSKDRKRHRSRDRRRGGSRSR
SRSRSKSAERERRHKERERDKERDRNKKDRDRDKDGHRRDKDRKRSSLSPGRGKDFKSRK
DRDSKKDEEDEHGDKKPKAQPLSLEELLAKKKAEEEAEAKPKFLSKAEREAEALKRRQQE
VEERQRMLEEERKKRKQFQDLGRKMLEDPQERERRERRERMERETNGNEDEEGRQKIREE
KDKSKELHAIKERYLGGIKKRRRTRHLNDRKFVFEWDASEDTSIDYNPLYKERHQVQLLG
RGFIAGIDLKQQKREQSRFYGDLMEKRRTLEEKEQEEARLRKLRKKEAKQRWDDRHWSQK
KLDEMTDRDWRIFREDYSITTKGGKIPNPIRSWKDSSLPPHILEVIDKCGYKEPTPIQRQ
AIPIGLQNRDIIGVAETGSGKTAAFLIPLLVWITTLPKIDRIEESDQGPYAIILAPTREL
AQQIEEETIKFGKPLGIRTVAVIGGISREDQGFRLRMGCEIVIATPGRLIDVLENRYLVL
SRCTYVVLDEADRMIDMGFEPDVQKILEHMPVSNQKPDTDEAEDPEKMLANFESGKHKYR
QTVMFTATMPPAVERL
ARSYLRRPAVVYIGSAGKPHERVEQKVFLMSESEKRKKLLAILE
QGFDPPIIIFVNQKKGCDVLAKSLEKMGYNACTLHGGKGQEQREFALSNLKAGAKDILVA
TDVAGRGIDIQDVSMVVNYDMAKNIEDYIHRIGRTGRAG
KSGVAITFLTKEDSAVFYELK
QAILESPVSSCPPELANHPDAQHKPGTILTKKRREETIFA
Sequence length 820
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome   mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Adenoid Cystic Associate 28076779
Carcinoma Renal Cell Associate 20121140
Myelodysplastic Syndromes Associate 31855738
Neoplasms Associate 28076779