• Gene id: 57539

Gene Summary

• Gene Symbol: WDR35   Gene   UCSC   Ensembl
• Aliases: CED2, FAP118, IFT121, IFTA1, SRTD7
• Gene name: WD repeat domain 35
• Alternate names: WD repeat-containing protein 35, intraflagellar transport protein 121 homolog, naofen,
• Gene location: 2p24.1 (19990104: 19910259)     Exons: 29     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
• OMIM: 613602

Protein Summary

• Protein general information: Q9P2L0  
  • Name: WD repeat containing protein 35 (Intraflagellar transport protein 121 homolog)
  • Length: 1181  
  • Mass: 133547
• Sequence:

  MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLETQTDDAKLRGLAAPSNLSMNQTLEGHSGSVQ
  VVTWNEQYQKLTTSDENGLIIVWMLYKGSWIEEMINNRNKSVVRSMSWNADGQKICIVYEDGAVIVGSVDGNRIW
  GKDLKGIQLSHVTWSADSKVLLFGMANGEIHIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYHGTEGYVEPDCP
  CLAVCFDNGRCQIMRHENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQFYTPFGEHLGTLK
  VPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTRPDRPEYCVVFWDTKNNEKYVKYVKG
  LISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGTPLDPKYIDIVPLFVAMTKTHVIAASKEAFY
  TWQYRVAKKLTALEINQITRSRKEGRERIYHVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKILIVGRESGT
  IQRYSLPNVGLIQKYSLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMK
  WAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYICNFEDLEIKSVLLDEILKDPEHPNKDYLINFEIRSLRDSR
  ALIEKVGIKDASQFIEDNPHPRLWRLLAEAALQKLDLYTAEQAFVRCKDYQGIKFVKRLGKLLSESMKQAEVVGY
  FGRFEEAERTYLEMDRRDLAIGLRLKLGDWFRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQ
  GRNQERLAECYYMLEDYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNK
  AVELAKNHSMKEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKKGSKPLRVKKLYVLSA
  LLIEQYHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFTDNAWRGAEAYHFFILAQRQLYEGCVDTALK
  TALHLKDYEDIIPPVEIYSLLALCACASRAFGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKDNRKPE
  LDSLMEGGEGKLPTCVATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG

• Structural information:
  • Interpro: IPR024977  IPR011990  IPR015943  IPR001680  IPR017986   IPR036322  IPR017233  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000314444
• Other Databases: GeneCards:  WDR35  Malacards:  WDR35

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0030991	intraciliary transport particle A	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0035721	intraciliary retrograde transport	IBA	biological process
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0042073	intraciliary transport	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0005813	centrosome	ISS	cellular component
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0035721	intraciliary retrograde transport	IMP	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0030991	intraciliary transport particle A	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0045019	negative regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0097756	negative regulation of blood vessel diameter	IEA	biological process
GO:1901555	response to paclitaxel	IEA	biological process
GO:1905705	cellular response to paclitaxel	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Cranioectodermal dysplasia	KEGG:H00529
Short rib-polydactyly syndrome	KEGG:H00511
Short-rib thoracic dysplasia	KEGG:H02157
Cranioectodermal dysplasia	KEGG:H00529
Short rib-polydactyly syndrome	KEGG:H00511
Sensenbrenner syndrome	PMID:22987818
Ellis-Van Creveld syndrome	PMID:25908617
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R