Seroatlas · Human Serome Atlas

DHX30

ATP-dependent RNA helicase DHX30

Also known as: DDX30, DHX30_HUMAN, FLJ11214, KIAA0890

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

Protein identityUniProt · HPA

UniProt accession: Q7L2E3
Gene: DHX30
Ensembl: ENSG00000132153
Chromosome: 3
Canonical length: 1194 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria,Cytosol

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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

1194 residues, UniProt reviewed canonical sequence.

>Q7L2E3|DHX30
     1  MFSLDSFRKD RAQHRQRQCK LPPPRLPPMC VNPTPGGTIS RASRDLLKEF PQPKNLLNSV
    61  IGRALGISHA KDKLVYVHTN GPKKKKVTLH IKWPKSVEVE GYGSKKIDAE RQAAAAACQL
   121  FKGWGLLGPR NELFDAAKYR VLADRFGSPA DSWWRPEPTM PPTSWRQLNP ESIRPGGPGG
   181  LSRSLGREEE EDEEEELEEG TIDVTDFLSM TQQDSHAPLR DSRGSSFEMT DDDSAIRALT
   241  QFPLPKNLLA KVIQIATSSS TAKNLMQFHT VGTKTKLSTL TLLWPCPMTF VAKGRRKAEA
   301  ENKAAALACK KLKSLGLVDR NNEPLTHAMY NLASLRELGE TQRRPCTIQV PEPILRKIET
   361  FLNHYPVESS WIAPELRLQS DDILPLGKDS GPLSDPITGK PYVPLLEAEE VRLSQSLLEL
   421  WRRRGPVWQE APQLPVDPHR DTILNAIEQH PVVVISGDTG CGKTTRIPQL LLERYVTEGR
   481  GARCNVIITQ PRRISAVSVA QRVSHELGPS LRRNVGFQVR LESKPPSRGG ALLFCTVGIL
   541  LRKLQSNPSL EGVSHVIVDE VHERDVNTDF LLILLKGLQR LNPALRLVLM SATGDNERFS
   601  RYFGGCPVIK VPGFMYPVKE HYLEDILAKL GKHQYLHRHR HHESEDECAL DLDLVTDLVL
   661  HIDARGEPGG ILCFLPGWQE IKGVQQRLQE ALGMHESKYL ILPVHSNIPM MDQKAIFQQP
   721  PVGVRKIVLA TNIAETSITI NDIVHVVDSG LHKEERYDLK TKVSCLETVW VSRANVIQRR
   781  GRAGRCQSGF AYHLFPRSRL EKMVPFQVPE ILRTPLENLV LQAKIHMPEK TAVEFLSKAV
   841  DSPNIKAVDE AVILLQEIGV LDQREYLTTL GQRLAHISTD PRLAKAIVLA AIFRCLHPLL
   901  VVVSCLTRDP FSSSLQNRAE VDKVKALLSH DSGSDHLAFV RAVAGWEEVL RWQDRSSREN
   961  YLEENLLYAP SLRFIHGLIK QFSENIYEAF LVGKPSDCTL ASAQCNEYSE EEELVKGVLM
  1021  AGLYPNLIQV RQGKVTRQGK FKPNSVTYRT KSGNILLHKS TINREATRLR SRWLTYFMAV
  1081  KSNGSVFVRD SSQVHPLAVL LLTDGDVHIR DDGRRATISL SDSDLLRLEG DSRTVRLLKE
  1141  LRRALGRMVE RSLRSELAAL PPSVQEEHGQ LLALLAELLR GPCGSFDVRK TADD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHX30 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): 0.29
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

testis: 53 nTPM
cerebellum: 43 nTPM
skeletal muscle: 39 nTPM
cerebral cortex: 34 nTPM
pituitary gland: 34 nTPM
endometrium: 30 nTPM

Single-cell type

late primary spermatocytes: 230 nCPM
late spermatids: 180 nCPM
epididymal principal cells: 139 nCPM
early spermatids: 121 nCPM
adrenal medulla cells: 117 nCPM
early primary spermatocytes: 102 nCPM

Immune cell

gdT-cell: 16 nTPM
memory CD8 T-cell: 16 nTPM
T-reg: 15 nTPM
total PBMC: 15 nTPM
basophil: 14 nTPM
myeloid DC: 14 nTPM

Brain region

choroid plexus: 55 nTPM
cerebral cortex: 54 nTPM
pons: 54 nTPM
midbrain: 53 nTPM
medulla oblongata: 53 nTPM
thalamus: 52 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHX30.

Disease | AllUniProt

Conditions DHX30 is implicated in, by any mechanism.

Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) MIM:617804

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 327 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with severe motor impairment and absent language
Inborn genetic diseases
6 conditions
8 conditions
Autism

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 5.3
DepMap mean gene effect: -0.33
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 DHX30 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 DHX30 as an antibody target. Whether an autoantibody or antibody against DHX30 could matter depends on whether native DHX30 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DHX30 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 DHX30 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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