• Gene id: 22911

Gene Summary

• Gene Symbol: WDR47   Gene   UCSC   Ensembl
• Gene name: WD repeat domain 47
• Alternate names: WD repeat-containing protein 47, nemitin, neuronal enriched MAP-interacting protein,
• Gene location: 1p13.3 (109042227: 108970210)     Exons: 17     NC_000001.11
• OMIM: 615734

Protein Summary

• Protein general information: O94967  
  • Name: WD repeat containing protein 47 (Neuronal enriched MAP interacting protein) (Nemitin)
  • Length: 919  
  • Mass: 101949
• Sequence:

  MTAEETVNVKEVEIIKLILDFLNSKKLHISMLALEKESGVINGLFSDDMLFLRQLILDGQWDEVLQFIQPLECME
  KFDKKRFRYIILKQKFLEALCVNNAMSAEDEPQHLEFTMQEAVQCLHALEEYCPSKDDYSKLCLLLTLPRLTNHA
  EFKDWNPSTARVHCFEEACVMVAEFIPADRKLSEAGFKASNNRLFQLVMKGLLYECCVEFCQSKATGEEITESEV
  LLGIDLLCGNGCDDLDLSLLSWLQNLPSSVFSCAFEQKMLNIHVDKLLKPTKAAYADLLTPLISKLSPYPSSPMR
  RPQSADAYMTRSLNPALDGLTCGLTSHDKRISDLGNKTSPMSHSFANFHYPGVQNLSRSLMLENTECHSIYEESP
  ERDTPVDAQRPIGSEILGQSSVSEKEPANGAQNPGPAKQEKNELRDSTEQFQEYYRQRLRYQQHLEQKEQQRQIY
  QQMLLEGGVNQEDGPDQQQNLTEQFLNRSIQKLGELNIGMDGLGNEVSALNQQCNGSKGNGSNGSSVTSFTTPPQ
  DSSQRLTHDASNIHTSTPRNPGSTNHIPFLEESPCGSQISSEHSVIKPPLGDSPGSLSRSKGEEDDKSKKQFVCI
  NILEDTQAVRAVAFHPAGGLYAVGSNSKTLRVCAYPDVIDPSAHETPKQPVVRFKRNKHHKGSIYCVAWSPCGQL
  LATGSNDKYVKVLPFNAETCNATGPDLEFSMHDGTIRDLAFMEGPESGGAILISAGAGDCNIYTTDCQRGQGLHA
  LSGHTGHILALYTWSGWMIASGSQDKTVRFWDLRVPSCVRVVGTTFHGTGSAVASVAVDPSGRLLATGQEDSSCM
  LYDIRGGRMVQSYHPHSSDVRSVRFSPGAHYLLTGSYDMKIKVTDLQGDLTKQLPIMVVGEHKDKVIQCRWHTQD
  LSFLSSSADRTVTLWTYNG

• Structural information:
  • Protein Domains: (10..4-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126-)
    (45..10-)
    (/note="CTLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00058"-)
  • Interpro: IPR024977  IPR006595  IPR006594  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  IPR040067  
  • Prosite: PS50897 PS50896 PS00678 PS50082 PS50294
  • STRING: ENSP00000383599
• Other Databases: GeneCards:  WDR47  Malacards:  WDR47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005874	microtubule	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0044295	axonal growth cone	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0120168	detection of hot stimulus involved in thermoception	IEA	biological process
GO:0061351	neural precursor cell proliferation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray