Seroatlas · Human Serome Atlas

DHX38

Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16

Also known as: DDX38, hPrp16, KIAA0224, PRP16, PRP16_HUMAN, PRPF16

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

Protein identityUniProt · HPA

UniProt accession: Q92620
Gene: DHX38
Ensembl: ENSG00000140829
Chromosome: 16
Canonical length: 1227 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, 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. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1227 residues, UniProt reviewed canonical sequence.

>Q92620|DHX38
     1  MGDTSEDASI HRLEGTDLDC QVGGLICKSK SAASEQHVFK APAPRPSLLG LDLLASLKRR
    61  EREEKDDGED KKKSKVSSYK DWEESKDDQK DAEEEGGDQA GQNIRKDRHY RSARVETPSH
   121  PGGVSEEFWE RSRQRERERR EHGVYASSKE EKDWKKEKSR DRDYDRKRDR DERDRSRHSS
   181  RSERDGGSER SSRRNEPESP RHRPKDAATP SRSTWEEEDS GYGSSRRSQW ESPSPTPSYR
   241  DSERSHRLST RDRDRSVRGK YSDDTPLPTP SYKYNEWADD RRHLGSTPRL SRGRGRREEG
   301  EEGISFDTEE ERQQWEDDQR QADRDWYMMD EGYDEFHNPL AYSSEDYVRR REQHLHKQKQ
   361  KRISAQRRQI NEDNERWETN RMLTSGVVHR LEVDEDFEED NAAKVHLMVH NLVPPFLDGR
   421  IVFTKQPEPV IPVKDATSDL AIIARKGSQT VRKHREQKER KKAQHKHWEL AGTKLGDIMG
   481  VKKEEEPDKA VTEDGKVDYR TEQKFADHMK RKSEASSEFA KKKSILEQRQ YLPIFAVQQE
   541  LLTIIRDNSI VIVVGETGSG KTTQLTQYLH EDGYTDYGMI GCTQPRRVAA MSVAKRVSEE
   601  MGGNLGEEVG YAIRFEDCTS ENTLIKYMTD GILLRESLRE ADLDHYSAII MDEAHERSLN
   661  TDVLFGLLRE VVARRSDLKL IVTSATMDAE KFAAFFGNVP IFHIPGRTFP VDILFSKTPQ
   721  EDYVEAAVKQ SLQVHLSGAP GDILIFMPGQ EDIEVTSDQI VEHLEELENA PALAVLPIYS
   781  QLPSDLQAKI FQKAPDGVRK CIVATNIAET SLTVDGIMFV IDSGYCKLKV FNPRIGMDAL
   841  QIYPISQANA NQRSGRAGRT GPGQCFRLYT QSAYKNELLT TTVPEIQRTN LANVVLLLKS
   901  LGVQDLLQFH FMDPPPEDNM LNSMYQLWIL GALDNTGGLT STGRLMVEFP LDPALSKMLI
   961  VSCDMGCSSE ILLIVSMLSV PAIFYRPKGR EEESDQIREK FAVPESDHLT YLNVYLQWKN
  1021  NNYSTIWCND HFIHAKAMRK VREVRAQLKD IMVQQRMSLA SCGTDWDIVR KCICAAYFHQ
  1081  AAKLKGIGEY VNIRTGMPCH LHPTSSLFGM GYTPDYIVYH ELVMTTKEYM QCVTAVDGEW
  1141  LAELGPMFYS VKQAGKSRQE NRRRAKEEAS AMEEEMALAE EQLRARRQEQ EKRSPLGSVR
  1201  STKIYTPGRK EQGEPMTPRR TPARFGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHX38 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: 43 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 43 nTPM
bone marrow: 38 nTPM
ovary: 33 nTPM
spleen: 33 nTPM
skin: 30 nTPM
blood vessel: 30 nTPM

Single-cell type

erythrocyte progenitors: 41 nCPM
retinal horizontal cells: 36 nCPM
tuft cells: 35 nCPM
b-cells: 33 nCPM
t-cells: 33 nCPM
lymphatic endothelial cells: 33 nCPM

Immune cell

gdT-cell: 11 nTPM
MAIT T-cell: 9.8 nTPM
NK-cell: 8.9 nTPM
T-reg: 8.7 nTPM
intermediate monocyte: 8.3 nTPM
memory CD8 T-cell: 8.2 nTPM

Brain region

choroid plexus: 33 nTPM
white matter: 30 nTPM
basal ganglia: 29 nTPM
thalamus: 28 nTPM
medulla oblongata: 27 nTPM
midbrain: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHX38.

Disease | AllUniProt

Conditions DHX38 is implicated in, by any mechanism.

Retinitis pigmentosa 84 (RP84) MIM:618220

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 934 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinal dystrophy
Retinitis pigmentosa 84
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa

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): 0.61
gnomAD pLI: 0
gnomAD missense Z: 2.67
DepMap mean gene effect: -0.83
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

via spliceosome
mRNA splicing

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DHX38 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 DHX38 as an antibody target. Whether an autoantibody or antibody against DHX38 could matter depends on whether native DHX38 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DHX38 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 DHX38 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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