• Gene id: 59349

Gene Summary

• Gene Symbol: KLHL12   Gene   UCSC   Ensembl
• Aliases: C3IP1, DKIR
• Gene name: kelch like family member 12
• Alternate names: kelch-like protein 12, CUL3-interacting protein 1, DKIR homolog, kelch-like protein C3IP1,
• Gene location: 1q32.1 (43507696: 43550953)     Exons: 24     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a su
• OMIM: 614522

Protein Summary

• Protein general information: Q53G59  
  • Name: Kelch like protein 12 (CUL3 interacting protein 1) (DKIR homolog) (hDKIR)
  • Length: 568  
  • Mass: 63277
  • Tissue specificity: Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland. {ECO
• Sequence:

  MGGIMAPKDIMTNTHAKSILNSMNSLRKSNTLCDVTLRVEQKDFPAHRIVLAACSDYFCAMFTSELSEKGKPYVD
  IQGLTASTMEILLDFVYTETVHVTVENVQELLPAACLLQLKGVKQACCEFLESQLDPSNCLGIRDFAETHNCVDL
  MQAAEVFSQKHFPEVVQHEEFILLSQGEVEKLIKCDEIQVDSEEPVFEAVINWVKHAKKEREESLPNLLQYVRMP
  LLTPRYITDVIDAEPFIRCSLQCRDLVDEAKKFHLRPELRSQMQGPRTRARLGANEVLLVVGGFGSQQSPIDVVE
  KYDPKTQEWSFLPSITRKRRYVASVSLHDRIYVIGGYDGRSRLSSVECLDYTADEDGVWYSVAPMNVRRGLAGAT
  TLGDMIYVSGGFDGSRRHTSMERYDPNIDQWSMLGDMQTAREGAGLVVASGVIYCLGGYDGLNILNSVEKYDPHT
  GHWTNVTPMATKRSGAGVALLNDHIYVVGGFDGTAHLSSVEAYNIRTDSWTTVTSMTTPRCYVGATVLRGRLYAI
  AGYDGNSLLSSIECYDPIIDSWEVVTSMGTQRCDAGVCVLREK

• Structural information:
  • Protein Domains: (33..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (135..23-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR011333  
  • Prosite: PS50097
  • PDB: 2VPJ
  • PDBsum: 2VPJ
  • STRING: ENSP00000356230
• Other Databases: GeneCards:  KLHL12  Malacards:  KLHL12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048208	COPII vesicle coating	IBA	biological process
GO:0006513	protein monoubiquitination	IBA	biological process
GO:0030134	COPII-coated ER to Golgi transport vesicle	IBA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	IDA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IDA	biological process
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0030127	COPII vesicle coat	IDA	cellular component
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0048208	COPII vesicle coating	IMP	biological process
GO:0016055	Wnt signaling pathway	IMP	biological process
GO:0048208	COPII vesicle coating	IMP	biological process
GO:0014032	neural crest cell development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0014029	neural crest formation	IMP	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030134	COPII-coated ER to Golgi transport vesicle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq