Seroatlas · Human Serome Atlas

DDX11

ATP-dependent DNA helicase DDX11

Also known as: CHL1, ChlR1, DDX11_HUMAN, KRG-2, WABS

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96FC9
Gene: DDX11
Ensembl: ENSG00000013573
Chromosome: 12
Canonical length: 970 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

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. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

970 residues, UniProt reviewed canonical sequence.

>Q96FC9|DDX11
     1  MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
    61  WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
   121  KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
   181  GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
   241  QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
   301  EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
   361  AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
   421  QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
   481  FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
   541  TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
   601  NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
   661  LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
   721  EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
   781  EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
   841  PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
   901  VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
   961  SRRRKWGNPE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDX11 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): 0.38
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 28 nTPM
thymus: 22 nTPM
pancreas: 17 nTPM
skin: 16 nTPM
spleen: 14 nTPM
small intestine: 13 nTPM

Single-cell type

erythrocyte progenitors: 33 nCPM
megakaryocyte progenitors: 29 nCPM
retinal ganglion cells: 23 nCPM
megakaryocyte-erythroid progenitors: 22 nCPM
monocyte progenitors: 22 nCPM
myonuclei: 20 nCPM

Immune cell

non-classical monocyte: 4.4 nTPM
naive B-cell: 2.6 nTPM
naive CD8 T-cell: 2.6 nTPM
memory B-cell: 2.5 nTPM
plasmacytoid DC: 2.4 nTPM
NK-cell: 2.2 nTPM

Brain region

choroid plexus: 6.4 nTPM
medulla oblongata: 5.9 nTPM
pons: 5.9 nTPM
cerebellum: 5.7 nTPM
white matter: 5.7 nTPM
basal ganglia: 5.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDX11.

Disease | AllUniProt

Conditions DDX11 is implicated in, by any mechanism.

Warsaw breakage syndrome (WBRS) MIM:613398

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 432 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Warsaw breakage syndrome
Sarcoma
Glioma susceptibility 1
Cervical cancer
DDX11-related condition

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): 0.96
gnomAD pLI: 0
gnomAD missense Z: -0.22
DepMap mean gene effect: -0.75
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DDX11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DDX11 as an antibody target. Whether an autoantibody or antibody against DDX11 could matter depends on whether native DDX11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DDX11 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DDX11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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