KLHL12, kelch like family member 12

KLHL12, kelch like family member 12

• 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 substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

• Gene Synonyms (kelch-like protein 12, CUL3-interacting protein 1, DKIR homolog, kelch-like protein C3IP1, C3IP1, DKIR,)
• NCBI Gene ID: 59349
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q53G59
  UNIPROT ID#>>Q9H7R2
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

kelch like family member 12 interacts with:

• arrestin domain containing 1
  C1q and TNF related 2
  collagen and calcium binding EGF domains 1
  CREB regulated transcription coactivator 3
  F-box and leucine rich repeat protein 17
  FYVE, RhoGEF and PH domain containing 2
  glycerate kinase
  kelch like family member 12
  ligand of numb-protein X 1
  lunapark, ER junction formation factor
  mediator complex subunit 25
  mediator complex subunit 28
  mitochondrial ribosomal protein L10
  myosin XVB
  ORC ubiquitin ligase 1
  penta-EF-hand domain containing 1
  ribonuclease P/MRP subunit p25 like
  SAMM50 sorting and assembly machinery component
  sorting nexin 20
  spectrin repeat containing nuclear envelope family member 4
  tau tubulin kinase 2
  TBC1 domain family member 10C
  transcription elongation factor A N-terminal and central domain containing
  Z-DNA binding protein 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.