• Gene id: 124997

Gene Summary

• Gene Symbol: WDR81   Gene   UCSC   Ensembl
• Aliases: CAMRQ2, HYC3, PPP1R166, SORF-2
• Gene name: WD repeat domain 81
• Alternate names: WD repeat-containing protein 81, protein phosphatase 1, regulatory subunit 166,
• Gene location: 17p13.3 (1716522: 1738598)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibitin
• OMIM: 614218

Protein Summary

• Protein general information: Q562E7  
  • Name: WD repeat containing protein 81
  • Length: 1941  
  • Mass: 211697
  • Tissue specificity: Widely expressed. In the brain, highest levels in cerebellum and corpus callosum. {ECO
• Sequence:

  MAQGSGGREGALRTPAGGWHSPPSPDMQELLRSVERDLSIDPRQLAPAPGGTHVVALVPARWLASLRDRRLPLGP
  CPRAEGLGEAEVRTLLQRSVQRLPAGWTRVEVHGLRKRRLSYPLGGGLPFEDGSCGPETLTRFMQEVAAQNYRNL
  WRHAYHTYGQPYSHSPAPSAVPALDSVRQALQRVYGCSFLPVGETTQCPSYAREGPCPPRGSPACPSLLRAEALL
  ESPEMLYVVHPYVQFSLHDVVTFSPAKLTNSQAKVLFILFRVLRAMDACHRQGLACGALSLYHIAVDEKLCSELR
  LDLSAYERPEEDENEEAPVARDEAGIVSQEEQGGQPGQPTGQEELRSLVLDWVHGRISNFHYLMQLNRLAGRRQG
  DPNYHPVLPWVVDFTTPHGRFRDLRKSKFRLNKGDKQLDFTYEMTRQAFVAGGAGGGEPPHVPHHISDVLSDITY
  YVYKARRTPRSVLCGHVRAQWEPHEYPASMERMQNWTPDECIPEFYTDPSIFRSIHPDMPDLDVPAWCSSSQEFV
  AAHRALLESREVSRDLHHWIDLTFGYKLQGKEAVKEKNVCLHLVDAHTHLASYGVVQLFDQPHPQRLAGAPALAP
  EPPLIPKLLVQTIQETTGREDFTENPGQLPNGVGRPVLEATPCEASWTRDRPVAGEDDLEQATEALDSISLAGKA
  GDQLGSSSQASPGLLSFSVASASRPGRRNKAAGADPGEGEEGRILLPEGFNPMQALEELEKTGNFLAKGLGGLLE
  VPEQPRVQPAVPLQCLLHRDMQALGVLLAEMVFATRVRTLQPDAPLWVRFQAVRGLCTRHPKEVPVSLQPVLDTL
  LQMSGPEVPMGAERGKLDQLFEYRPVSQGLPPPCPSQLLSPFSSVVPFPPYFPALHRFILLYQARRVEDEAQGRE
  LVFALWQQLGAVLKDITPEGLEILLPFVLSLMSEEHTAVYTAWYLFEPVAKALGPKNANKYLLKPLIGAYESPCQ
  LHGRFYLYTDCFVAQLMVRLGLQAFLTHLLPHVLQVLAGAEASQEESKDLAGAAEEEESGLPGAGPGSCAFGEEI
  PMDGEPPASSGLGLPDYTSGVSFHDQADLPETEDFQAGLYVTESPQPQEAEAVSLGRLSDKSSTSETSLGEERAP
  DEGGAPVDKSSLRSGDSSQDLKQSEGSEEEEEEEDSCVVLEEEEGEQEEVTGASELTLSDTVLSMETVVAGGSGG
  DGEEEEEALPEQSEGKEQKILLDTACKMVRWLSAKLGPTVASRHVARNLLRLLTSCYVGPTRQQFTVSSGESPPL
  SAGNIYQKRPVLGDIVSGPVLSCLLHIARLYGEPVLTYQYLPYISYLVAPGSASGPSRLNSRKEAGLLAAVTLTQ
  KIIVYLSDTTLMDILPRISHEVLLPVLSFLTSLVTGFPSGAQARTILCVKTISLIALICLRIGQEMVQQHLSEPV
  ATFFQVFSQLHELRQQDLKLDPAGRGEGQLPQVVFSDGQQRPVDPALLDELQKVFTLEMAYTIYVPFSCLLGDII
  RKIIPNHELVGELAALYLESISPSSRNPASVEPTMPGTGPEWDPHGGGCPQDDGHSGTFGSVLVGNRIQIPNDSR
  PENPGPLGPISGVGGGGLGSGSDDNALKQELPRSVHGLSGNWLAYWQYEIGVSQQDAHFHFHQIRLQSFPGHSGA
  VKCVAPLSSEDFFLSGSKDRTVRLWPLYNYGDGTSETAPRLVYTQHRKSVFFVGQLEAPQHVVSCDGAVHVWDPF
  TGKTLRTVEPLDSRVPLTAVAVMPAPHTSITMASSDSTLRFVDCRKPGLQHEFRLGGGLNPGLVRALAISPSGRS
  VVAGFSSGFMVLLDTRTGLVLRGWPAHEGDILQIKAVEGSVLVSSSSDHSLTVWKELEQKPTHHYKSASDPIHTF
  DLYGSEVVTGTVSNKIGVCSLLEPPSQATTKLSSENFRGTLTSLALLPTKRHLLLGSDNGVIRLLA

• Structural information:
  • Protein Domains: (337..61-)
    (/note="BEACH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00026"-)
  • Interpro: IPR000409  IPR036372  IPR011009  IPR015943  IPR001680   IPR017986  IPR036322  
  • Prosite: PS50197 PS50082 PS50294
  • CDD: cd06071
  • STRING: ENSP00000386609
• Other Databases: GeneCards:  WDR81  Malacards:  WDR81

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0031902	late endosome membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	NOT|cellular component
GO:0005794	Golgi apparatus	IDA	NOT|cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0031313	extrinsic component of endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031313	extrinsic component of endosome membrane	IDA	cellular component
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0000421	autophagosome membrane	IDA	cellular component
GO:0035014	phosphatidylinositol 3-kinase regulator activity	IMP	molecular function
GO:0043551	regulation of phosphatidylinositol 3-kinase activity	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035973	aggrephagy	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Cerebellar ataxia, mental retardation	KEGG:H01204
Cerebellar ataxia, mental retardation	KEGG:H01204
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray