• Gene id: 161582

Gene Summary

• Gene Symbol: DNAAF4   Gene   UCSC   Ensembl
• Aliases: CILD25, DYX1, DYX1C1, DYXC1, EKN1, RD
• Gene name: dynein axonemal assembly factor 4
• Alternate names: dynein assembly factor 4, axonemal, dyslexia susceptibility 1 candidate 1, dyslexia susceptibility 1 candidate gene 1 protein,
• Gene location: 15q21.3 (55508233: 55417754)     Exons: 11     NC_000015.10
• Gene summary(Entrez): This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in th
• OMIM: 608706

SNPs

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

Protein Summary

• Protein general information: Q8WXU2  
  • Name: Dynein assembly factor 4, axonemal (Dyslexia susceptibility 1 candidate gene 1 protein)
  • Length: 420  
  • Mass: 48527
  • Tissue specificity: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells. {ECO
• Sequence:

  MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNFPPFLFEAFLYAPIDDESSKAKIGNDTIVFTL
  YKKEAAMWETLSVTGVDKEMMQRIREKSILQAQERAKEATEAKAAAKREDQKYALSVMMKIEEEERKKIEDMKEN
  ERIKATKALEAWKEYQRKAEEQKKIQREEKLCQKEKQIKEERKKIKYKSLTRNLASRNLAPKGRNSENIFTEKLK
  EDSIPAPRSVGSIKINFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAELCDLKEEEKNPEWLKDKGNKL
  FATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSKALELLMPPVTDNANARMKAHVRRGTA
  FCQLELYVEGLQDYEAALKIDPSNKIVQIDAEKIRNVIQGTELKS

• Structural information:
  • Protein Domains: (3..8-)
    (/note="CS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00547"-)
  • Interpro: IPR007052  IPR037894  IPR008978  IPR013026  IPR011990   IPR019734  
  • Prosite: PS51203 PS50005 PS50293
  • CDD: cd06469
  • STRING: ENSP00000323275
• Other Databases: GeneCards:  DNAAF4  Malacards:  DNAAF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003351	epithelial cilium movement involved in extracellular fluid movement	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0036159	inner dynein arm assembly	IBA	biological process
GO:0097730	non-motile cilium	IBA	cellular component
GO:0003341	cilium movement	IBA	biological process
GO:0007368	determination of left/right symmetry	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0030331	estrogen receptor binding	IBA	molecular function
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0061136	regulation of proteasomal protein catabolic process	IDA	biological process
GO:0030331	estrogen receptor binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0001764	neuron migration	ISS	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003341	cilium movement	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003341	cilium movement	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097730	non-motile cilium	IEA	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Dyslexia	KEGG:H01899
Primary ciliary dyskinesia	KEGG:H00564
Dyslexia	KEGG:H01899
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq