EFHC1, EF-hand domain containing 1

EFHC1, EF-hand domain containing 1

• This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

• Gene Synonyms (EJM1, POC9, RIB72, dJ304B14.2, EF-hand domain-containing protein 1, EF-hand domain (C-terminal) containing 1, myoclonin-1,)
• NCBI Gene ID: 114327
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q5JVL4
  UNIPROT ID#>>B2CKC5
• 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.

EF-hand domain containing 1 interacts with:

• chromosome 20 open reading frame 85
  cilia and flagella associated protein 161
  coiled-coil domain containing 150
  docking protein 7
  growth arrest specific 2 like 2
  HAUS augmin like complex subunit 1
  interactor of HORMAD1 1
  MAM domain containing 2
  methyltransferase like 27
  potassium channel tetramerization domain containing 4
  selenoprotein V
  SLAIN motif family member 1
  suppressor APC domain containing 1
  testis specific 10 interacting protein
  tetratricopeptide repeat domain 23 like

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.