DDX54

Protein identityUniProt · HPA

UniProt accession

Q8TDD1

Gene

DDX54

Ensembl

ENSG00000123064

Chromosome

12

Canonical length

881 aa

Protein class

Enzymes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli,Golgi apparatus

OverviewNCBI 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 secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

881 residues, UniProt reviewed canonical sequence.

>Q8TDD1|DDX54
     1  MAADKGPAAG PRSRAAMAQW RKKKGLRKRR GAASQARGSD SEDGEFEIQA EDDARARKLG
    61  PGRPLPTFPT SECTSDVEPD TREMVRAQNK KKKKSGGFQS MGLSYPVFKG IMKKGYKVPT
   121  PIQRKTIPVI LDGKDVVAMA RTGSGKTACF LLPMFERLKT HSAQTGARAL ILSPTRELAL
   181  QTLKFTKELG KFTGLKTALI LGGDRMEDQF AALHENPDII IATPGRLVHV AVEMSLKLQS
   241  VEYVVFDEAD RLFEMGFAEQ LQEIIARLPG GHQTVLFSAT LPKLLVEFAR AGLTEPVLIR
   301  LDVDTKLNEQ LKTSFFLVRE DTKAAVLLHL LHNVVRPQDQ TVVFVATKHH AEYLTELLTT
   361  QRVSCAHIYS ALDPTARKIN LAKFTLGKCS TLIVTDLAAR GLDIPLLDNV INYSFPAKGK
   421  LFLHRVGRVA RAGRSGTAYS LVAPDEIPYL LDLHLFLGRS LTLARPLKEP SGVAGVDGML
   481  GRVPQSVVDE EDSGLQSTLE ASLELRGLAR VADNAQQQYV RSRPAPSPES IKRAKEMDLV
   541  GLGLHPLFSS RFEEEELQRL RLVDSIKNYR SRATIFEINA SSRDLCSQVM RAKRQKDRKA
   601  IARFQQGQQG RQEQQEGPVG PAPSRPALQE KQPEKEEEEE AGESVEDIFS EVVGRKRQRS
   661  GPNRGAKRRR EEARQRDQEF YIPYRPKDFD SERGLSISGE GGAFEQQAAG AVLDLMGDEA
   721  QNLTRGRQQL KWDRKKKRFV GQSGQEDKKK IKTESGRYIS SSYKRDLYQK WKQKQKIDDR
   781  DSDEEGASDR RGPERRGGKR DRGQGASRPH APGTPAGRVR PELKTKQQIL KQRRRAQKLH
   841  FLQRGGLKQL SARNRRRVQE LQQGAFGRGA RSKKGKMRKR M

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDX54 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDX54.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 255 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental delay
• Intellectual disability
• Neurodevelopmental disorders
• Seizure

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0

gnomAD missense Z

0.68

DepMap mean gene effect

-1.46

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• estrogen receptor signaling pathway
• RNA metabolic process
• RNA processing
• rRNA processing

Molecular functions

• ATP binding
• ATP hydrolysis activity
• nuclear estrogen receptor binding
• RNA binding
• RNA helicase activity
• signaling receptor binding
• transcription corepressor activity

Cellular components

• Golgi apparatus
• membrane
• nucleolus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• ATP-dependent RNA helicase DEAD-box, conserved site
• Helicase, C-terminal domain-like
• DEAD/DEAH-box helicase domain
• Helicase superfamily 1/2, ATP-binding domain
• RNA helicase, DEAD-box type, Q motif
• P-loop containing nucleoside triphosphate hydrolase
• DEAD box RNA helicase
• DEAD/DEAH box helicase
• Helicase conserved C-terminal domain
• DBP10, C-terminal
• DDX54/DBP10 family, DEAD-box helicase domain
• DBP10CT (NUC160) domain

KeywordsUniProt

• ATP-binding
• Helicase
• Hydrolase
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• RNA-binding
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of DDX54 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ALKBH5
• CSNK2B
• NPM1