DHX16

Protein identityUniProt · HPA

UniProt accession

O60231

Gene

DHX16

Ensembl

ENSG00000204560

Chromosome

6

Canonical length

1041 aa

Protein class

Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

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 a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]

Canonical amino-acid sequenceUniProt

1041 residues, UniProt reviewed canonical sequence.

>O60231|DHX16
     1  MATPAGLERW VQDELHSVLG LSERHVAQFL IGTAQRCTSA EEFVQRLRDT DTLDLSGPAR
    61  DFALRLWNKV PRKAVVEKPA RAAEREARAL LEKNRSYRLL EDSEESSEET VSRAGSSLQK
   121  KRKKRKHLRK KREEEEEEEA SEKGKKKTGG SKQQTEKPES EDEWERTERE RLQDLEERDA
   181  FAERVRQRDK DRTRNVLERS DKKAYEEAQK RLKMAEEDRK AMVPELRKKS RREYLAKRER
   241  EKLEDLEAEL ADEEFLFGDV ELSRHERQEL KYKRRVRDLA REYRAAGEQE KLEATNRYHM
   301  PKETRGQPAR AVDLVEEESG APGEEQRRWE EARLGAASLK FGARDAASQE PKYQLVLEEE
   361  ETIEFVRATQ LQGDEEPSAP PTSTQAQQKE SIQAVRRSLP VFPFREELLA AIANHQVLII
   421  EGETGSGKTT QIPQYLFEEG YTNKGMKIAC TQPRRVAAMS VAARVAREMG VKLGNEVGYS
   481  IRFEDCTSER TVLRYMTDGM LLREFLSEPD LASYSVVMVD EAHERTLHTD ILFGLIKDVA
   541  RFRPELKVLV ASATMDTARF STFFDDAPVF RIPGRRFPVD IFYTKAPEAD YLEACVVSVL
   601  QIHVTQPPGD ILVFLTGQEE IEAACEMLQD RCRRLGSKIR ELLVLPIYAN LPSDMQARIF
   661  QPTPPGARKV VVATNIAETS LTIEGIIYVL DPGFCKQKSY NPRTGMESLT VTPCSKASAN
   721  QRAGRAGRVA AGKCFRLYTA WAYQHELEET TVPEIQRTSL GNVVLLLKSL GIHDLMHFDF
   781  LDPPPYETLL LALEQLYALG ALNHLGELTT SGRKMAELPV DPMLSKMILA SEKYSCSEEI
   841  LTVAAMLSVN NSIFYRPKDK VVHADNARVN FFLPGGDHLV LLNVYTQWAE SGYSSQWCYE
   901  NFVQFRSMRR ARDVREQLEG LLERVEVGLS SCQGDYIRVR KAITAGYFYH TARLTRSGYR
   961  TVKQQQTVFI HPNSSLFEQQ PRWLLYHELV LTTKEFMRQV LEIESSWLLE VAPHYYKAKE
  1021  LEDPHAKKMP KKIGKTREEL G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHX16 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)

0.34

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHX16.

Disease | AllUniProt

Conditions DHX16 is implicated in, by any mechanism.

• Neuromuscular oculoauditory syndrome (NMOAS) MIM:618733

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 240 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neuromuscular disease and ocular or auditory anomalies with or without seizures
• Neurodevelopmental disorders
• Neurodevelopmental delay
• Intellectual disability
• Reduced renal corticomedullary differentiation

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)

0.64

gnomAD pLI

0

gnomAD missense Z

3.08

DepMap mean gene effect

-1.3

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• antiviral innate immune response
• mRNA splicing, via spliceosome
• RNA splicing

Molecular functions

• ATP binding
• ATP hydrolysis activity
• helicase activity
• molecular adaptor activity
• pattern recognition receptor activity
• RNA binding
• RNA helicase activity
• ubiquitin binding

Cellular components

• cytoplasm
• nucleoplasm
• nucleus
• spliceosomal complex
• U2-type precatalytic spliceosome

Protein domainsUniProt · Pfam · InterPro

• Helicase, C-terminal domain-like
• DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
• Helicase-associated domain
• DEAD/DEAH-box helicase domain
• DEAD-box helicase, OB fold
• Helicase superfamily 1/2, ATP-binding domain
• P-loop containing nucleoside triphosphate hydrolase
• Helicase associated domain (HA2), winged-helix domain
• DEAD/DEAH box helicase
• Helicase conserved C-terminal domain
• Helicase associated domain (HA2), winged-helix
• Oligonucleotide/oligosaccharide-binding (OB)-fold
• Helicase associated domain (HA2), ratchet-like

KeywordsUniProt

• ATP-binding
• Cytoplasm
• Helicase
• Hydrolase
• Immunity
• Innate immunity
• mRNA processing
• mRNA splicing
• Neuropathy
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Spliceosome

InteractionsUniProt · HPA

Protein binding partners of DHX16 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GPKOW
• RIGI
• TRIM6
• DHX38
• SF3B2
• XAB2