• Gene id: 9948

Gene Summary

• Gene Symbol: WDR1   Gene   UCSC   Ensembl
• Aliases: AIP1, HEL-S-52, NORI-1
• Gene name: WD repeat domain 1
• Alternate names: WD repeat-containing protein 1, actin-interacting protein 1, epididymis secretory protein Li 52,
• Gene location: 4p16.1 (69398373: 69462389)     Exons: 9     NC_000014.9
• Gene summary(Entrez): This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions
• OMIM: 604734

Protein Summary

• Protein general information: O75083  
  • Name: WD repeat containing protein 1 (Actin interacting protein 1) (AIP1) (NORI 1)
  • Length: 606  
  • Mass: 66194
• Sequence:

  MPYEIKKVFASLPQVERGVSKIIGGDPKGNNFLYTNGKCVILRNIDNPALADIYTEHAHQVVVAKYAPSGFYIAS
  GDVSGKLRIWDTTQKEHLLKYEYQPFAGKIKDIAWTEDSKRIAVVGEGREKFGAVFLWDSGSSVGEITGHNKVIN
  SVDIKQSRPYRLATGSDDNCAAFFEGPPFKFKFTIGDHSRFVNCVRFSPDGNRFATASADGQIYIYDGKTGEKVC
  ALGGSKAHDGGIYAISWSPDSTHLLSASGDKTSKIWDVSVNSVVSTFPMGSTVLDQQLGCLWQKDHLLSVSLSGY
  INYLDRNNPSKPLHVIKGHSKSIQCLTVHKNGGKSYIYSGSHDGHINYWDSETGENDSFAGKGHTNQVSRMTVDE
  SGQLISCSMDDTVRYTSLMLRDYSGQGVVKLDVQPKCVAVGPGGYAVVVCIGQIVLLKDQRKCFSIDNPGYEPEV
  VAVHPGGDTVAIGGVDGNVRLYSILGTTLKDEGKLLEAKGPVTDVAYSHDGAFLAVCDASKVVTVFSVADGYSEN
  NVFYGHHAKIVCLAWSPDNEHFASGGMDMMVYVWTLSDPETRVKIQDAHRLHHVSSLAWLDEHTLVTTSHDASVK
  EWTITY

• Structural information:
  • Interpro: IPR020472  IPR011045  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000427687
• Other Databases: GeneCards:  WDR1  Malacards:  WDR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042643	actomyosin, actin portion	IBA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0030042	actin filament depolymerization	IBA	biological process
GO:0030836	positive regulation of actin filament depolymerization	IBA	biological process
GO:0030864	cortical actin cytoskeleton	IBA	cellular component
GO:0040011	locomotion	IBA	biological process
GO:0045214	sarcomere organization	IBA	biological process
GO:0030834	regulation of actin filament depolymerization	IDA	biological process
GO:0005911	cell-cell junction	IDA	cellular component
GO:0043297	apical junction assembly	IDA	biological process
GO:0045199	maintenance of epithelial cell apical/basal polarity	IDA	biological process
GO:0051015	actin filament binding	ISS	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:1990266	neutrophil migration	IEA	biological process
GO:0042247	establishment of planar polarity of follicular epithelium	IEA	biological process
GO:0030865	cortical cytoskeleton organization	IEA	biological process
GO:0030220	platelet formation	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0048713	regulation of oligodendrocyte differentiation	IEA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0030836	positive regulation of actin filament depolymerization	IEA	biological process
GO:0030043	actin filament fragmentation	IEA	biological process
GO:0002446	neutrophil mediated immunity	IEA	biological process
GO:0005884	actin filament	IEA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
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)
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
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-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