• Gene id: 116138

Gene Summary

• Gene Symbol: KLHDC3   Gene   UCSC   Ensembl
• Aliases: PEAS, dJ20C7.3
• Gene name: kelch domain containing 3
• Alternate names: kelch domain-containing protein 3, testis intracellular mediator protein,
• Gene location: 6p21.1 (43014248: 43021293)     Exons: 11     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specificall

Protein Summary

• Protein general information: Q9BQ90  
  • Name: Kelch domain containing protein 3 (Protein Peas) (Testis intracellular mediator protein)
  • Length: 382  
  • Mass: 43088
• Sequence:

  MLRWTVHLEGGPRRVNHAAVAVGHRVYSFGGYCSGEDYETLRQIDVHIFNAVSLRWTKLPPVKSAIRGQAPVVPY
  MRYGHSTVLIDDTVLLWGGRNDTEGACNVLYAFDVNTHKWFTPRVSGTVPGARDGHSACVLGKIMYIFGGYEQQA
  DCFSNDIHKLDTSTMTWTLICTKGSPARWRDFHSATMLGSHMYVFGGRADRFGPFHSNNEIYCNRIRVFDTRTEA
  WLDCPPTPVLPEGRRSHSAFGYNGELYIFGGYNARLNRHFHDLWKFNPVSFTWKKIEPKGKGPCPRRRQCCCIVG
  DKIVLFGGTSPSPEEGLGDEFDLIDHSDLHILDFSPSLKTLCKLAVIQYNLDQSCLPHDIRWELNAMTTNSNISR
  PIVSSHG

• Structural information:
  • Interpro: IPR015915  IPR011498  
  • STRING: ENSP00000313995
• Other Databases: GeneCards:  KLHDC3  Malacards:  KLHDC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0007131	reciprocal meiotic recombination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray