• Gene id: 55510

Gene Summary

• Gene Symbol: DDX43   Gene   UCSC   Ensembl
• Aliases: CT13, HAGE
• Gene name: DEAD-box helicase 43
• Alternate names: probable ATP-dependent RNA helicase DDX43, DEAD (Asp-Glu-Ala-Asp) box polypeptide 43, DEAD box protein HAGE, DEAD-box protein 43, cancer/testis antigen 13, helical antigen,
• Gene location: 6q13 (99144297: 99123656)     Exons: 10     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]
• OMIM: 606286

Protein Summary

• Protein general information: Q9NXZ2  
  • Name: Probable ATP dependent RNA helicase DDX43 (EC 3.6.4.13) (Cancer/testis antigen 13) (CT13) (DEAD box protein 43) (DEAD box protein HAGE) (Helical antigen)
  • Length: 648  
  • Mass: 72844
  • Tissue specificity: Expressed in testis. Expressed in many tumors of various histological types at a level that is 100-fold higher than the level observed in normal tissues except testis. {ECO
• Sequence:

  MSHHGGAPKASTWVVASRRSSTVSRAPERRPAEELNRTGPEGYSVGRGGRWRGTSRPPEAVAAGHEELPLCFALK
  SHFVGAVIGRGGSKIKNIQSTTNTTIQIIQEQPESLVKIFGSKAMQTKAKAVIDNFVKKLEENYNSECGIDTAFQ
  PSVGKDGSTDNNVVAGDRPLIDWDQIREEGLKWQKTKWADLPPIKKNFYKESTATSAMSKVEADSWRKENFNITW
  DDLKDGEKRPIPNPTCTFDDAFQCYPEVMENIKKAGFQKPTPIQSQAWPIVLQGIDLIGVAQTGTGKTLCYLMPG
  FIHLVLQPSLKGQRNRPGMLVLTPTRELALQVEGECCKYSYKGLRSVCVYGGGNRDEQIEELKKGVDIIIATPGR
  LNDLQMSNFVNLKNITYLVLDEADKMLDMGFEPQIMKILLDVRPDRQTVMTSATWPHSVHRLAQSYLKEPMIVYV
  GTLDLVAVSSVKQNIIVTTEEEKWSHMQTFLQSMSSTDKVIVFVSRKAVADHLSSDLILGNISVESLHGDREQRD
  REKALENFKTGKVRILIATDLASRGLDVHDVTHVYNFDFPRNIEEYVHRIGRTGRAGRTGVSITTLTRNDWRVAS
  ELINILERANQSIPEELVSMAERFKAHQQKREMERKMERPQGRPKKFH

• Structural information:
  • Protein Domains: (67..12-)
    (/note="KH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (273..44-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (460..62-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSI-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR004087  IPR004088   IPR036612  IPR027417  IPR000629  IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS50084 PS51195
  • STRING: ENSP00000359361
• Other Databases: GeneCards:  DDX43  Malacards:  DDX43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R