• Gene id: 123872

Gene Summary

• Gene Symbol: DNAAF1   Gene   UCSC   Ensembl
• Aliases: CILD13, DAU1, LRRC50, ODA7, swt
• Gene name: dynein axonemal assembly factor 1
• Alternate names: dynein assembly factor 1, axonemal, leucine-rich repeat-containing protein 50, outer row dynein assembly 7 homolog, testicular tissue protein Li 110,
• Gene location: 16q24.1 (84145265: 84178760)     Exons: 14     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated w
• OMIM: 613190

SNPs

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

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

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

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

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

Protein Summary

• Protein general information: Q8NEP3  
  • Name: Dynein assembly factor 1, axonemal (Leucine rich repeat containing protein 50)
  • Length: 725  
  • Mass: 80026
  • Tissue specificity: Mainly expressed in trachea and testis. {ECO
• Sequence:

  MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFA
  HPREDREDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQ
  TELRCLFLQMNLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVL
  DLSHNKLSDPEILSILESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYA
  AEKEERQQWESRERKKITDSIEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKM
  ELFVKESFEAKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPP
  PPVEVKGEDGDQEPEGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTE
  LDGTRTEDLETIRLETKETFCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPT
  DTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSS
  GDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS

• Structural information:
  • Protein Domains: (256..29-)
    (/note="LRRCT"-)
  • Interpro: IPR027734  IPR001611  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000367815
• Other Databases: GeneCards:  DNAAF1  Malacards:  DNAAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0005930	axoneme	IBA	cellular component
GO:0070840	dynein complex binding	IBA	molecular function
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0044458	motile cilium assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IC	biological process
GO:0001947	heart looping	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IMP	biological process
GO:0071910	determination of liver left/right asymmetry	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0005737	cytoplasm	NAS	cellular component
GO:0030324	lung development	IMP	biological process
GO:0035469	determination of pancreatic left/right asymmetry	IMP	biological process
GO:0044458	motile cilium assembly	IMP	biological process
GO:0060972	left/right pattern formation	IMP	biological process
GO:0000922	spindle pole	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0070840	dynein complex binding	IMP	molecular function

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)