DDX46
Probable ATP-dependent RNA helicase DDX46
Also known as: DDX46_HUMAN, FLJ25329, KIAA0801, Prp5, PRPF5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7L014
- Gene
- DDX46
- Ensembl
- ENSG00000145833
- Chromosome
- 5
- Canonical length
- 1031 aa
- Protein class
- Enzymes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoli fibrillar center,Nuclear speckles
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 protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
Canonical amino-acid sequenceUniProt
1031 residues, UniProt reviewed canonical sequence.
>Q7L014|DDX46
1 MGRESRHYRK RSASRGRSGS RSRSRSPSDK RSKRGDDRRS RSRDRDRRRE RSRSRDKRRS
61 RSRDRKRLRR SRSRERDRSR ERRRSRSRDR RRSRSRSRGR RSRSSSPGNK SKKTENRSRS
121 KEKTDGGESS KEKKKDKDDK EDEKEKDAGN FDQNKLEEEM RKRKERVEKW REEQRKKAME
181 NIGELKKEIE EMKQGKKWSL EDDDDDEDDP AEAEKEGNEM EGEELDPLDA YMEEVKEEVK
241 KFNMRSVKGG GGNEKKSGPT VTKVVTVVTT KKAVVDSDKK KGELMENDQD AMEYSSEEEE
301 VDLQTALTGY QTKQRKLLEP VDHGKIEYEP FRKNFYVEVP ELAKMSQEEV NVFRLEMEGI
361 TVKGKGCPKP IKSWVQCGIS MKILNSLKKH GYEKPTPIQT QAIPAIMSGR DLIGIAKTGS
421 GKTIAFLLPM FRHIMDQRSL EEGEGPIAVI MTPTRELALQ ITKECKKFSK TLGLRVVCVY
481 GGTGISEQIA ELKRGAEIIV CTPGRMIDML AANSGRVTNL RRVTYVVLDE ADRMFDMGFE
541 PQVMRIVDNV RPDRQTVMFS ATFPRAMEAL ARRILSKPIE VQVGGRSVVC SDVEQQVIVI
601 EEEKKFLKLL ELLGHYQESG SVIIFVDKQE HADGLLKDLM RASYPCMSLH GGIDQYDRDS
661 IINDFKNGTC KLLVATSVAA RGLDVKHLIL VVNYSCPNHY EDYVHRAGRT GRAGNKGYAY
721 TFITEDQARY AGDIIKALEL SGTAVPPDLE KLWSDFKDQQ KAEGKIIKKS SGFSGKGFKF
781 DETEQALANE RKKLQKAALG LQDSDDEDAA VDIDEQIESM FNSKKRVKDM AAPGTSSVPA
841 PTAGNAEKLE IAKRLALRIN AQKNLGIESQ DVMQQATNAI LRGGTILAPT VSAKTIAEQL
901 AEKINAKLNY VPLEKQEEER QDGGQNESFK RYEEELEIND FPQTARWKVT SKEALQRISE
961 YSEAAITIRG TYFPPGKEPK EGERKIYLAI ESANELAVQK AKAEITRLIK EELIRLQNSY
1021 QPTNKGRYKV LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDX46 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)
- 0.43
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 33 nTPM
- thymus: 30 nTPM
- tonsil: 25 nTPM
- lymph node: 24 nTPM
- appendix: 23 nTPM
- bone marrow: 22 nTPM
Single-cell type
- early primary spermatocytes: 359 nCPM
- differentiating spermatogonia: 320 nCPM
- erythrocyte progenitors: 258 nCPM
- esophageal basal cells: 226 nCPM
- extravillous trophoblasts: 209 nCPM
- syncytiotrophoblasts: 197 nCPM
Immune cell
- neutrophil: 56 nTPM
- basophil: 56 nTPM
- eosinophil: 48 nTPM
- naive B-cell: 44 nTPM
- plasmacytoid DC: 39 nTPM
- memory B-cell: 38 nTPM
Brain region
- cerebellum: 39 nTPM
- choroid plexus: 30 nTPM
- hypothalamus: 29 nTPM
- medulla oblongata: 27 nTPM
- white matter: 27 nTPM
- thalamus: 27 nTPM
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)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 5.48
- DepMap mean gene effect
- -1.02
- DepMap dependency class
- common
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
- 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
- ATP-dependent RNA helicase PRP5/DDX46/KHDC4, KH domain
- DEAD/DEAH box helicase
- Helicase conserved C-terminal domain
- KH-domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DDX46 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 DDX46 as an antibody target. Whether an autoantibody or antibody against DDX46 could matter depends on whether native DDX46 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDX46 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 DDX46 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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