• Gene id: 139170

Gene Summary

• Gene Symbol: DCAF12L1   Gene   UCSC   Ensembl
• Aliases: KIAA1892L, WDR40B
• Gene name: DDB1 and CUL4 associated factor 12 like 1
• Alternate names: DDB1- and CUL4-associated factor 12-like protein 1, WD repeat domain 40B, WD repeat-containing protein 40B,
• Gene location: Xq25 (126552813: 126549382)     Exons: 2     NC_000023.11
• 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

Protein Summary

• Protein general information: Q5VU92  
  • Name: DDB1 and CUL4 associated factor 12 like protein 1 (WD repeat containing protein 40B)
  • Length: 463  
  • Mass: 51201
• Sequence:

  MAQQQTGSRKRKAPAVEADAESSPSQGLAAADGEGPLLLKRQRRPATYRSMAHYLKVREVGGWGPARLQGFDGEL
  RGYAVQRLPELLTERQLELGTVNKVFASQWLNSRQVVCGTKCNTLFVVDVESGHIARIPLLRDSEARLAQDQQGC
  GIHAIELNPSKTLLATGGENPNSLAIYQLPSLDPLCLGDRHGHKDWIFAVAWLSDTVAVSGSRDGTVALWRMDPD
  KFDDTVAWHSEVGLPVYAHIRPRDVEAIPRAIINPSNRKVRALACGGKNQELGAVSLDGYFHLWKAGSALSRLLS
  IRLPYFRDNVCLTYCDDMSVYAVGSHSHVSFLDLRQDQQNIRPLCSREGGTGVRSLSFYRHIITVGTGQGSLLFY
  DVRAQKFLEERASATLESSSGPARRKLRLACGRGWLNHNDFWVNYFGGMEVFPNALYTHCYNWPEMKLFVAGGPL
  PAGLHGNYAGLWS

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000360167
• Other Databases: GeneCards:  DCAF12L1  Malacards:  DCAF12L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq