Human Gene EFHC1 (uc003pap.4) Description and Page Index
Description: Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. RefSeq Summary (NM_018100): 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]. Transcript (Including UTRs) Position: hg19 chr6:52,284,994-52,360,583 Size: 75,590 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr6:52,285,209-52,357,139 Size: 71,931 Coding Exon Count: 11
ID:EFHC1_HUMAN DESCRIPTION: RecName: Full=EF-hand domain-containing protein 1; AltName: Full=Myoclonin-1; FUNCTION: May enhance calcium influx through CACNA1E and stimulate programmed cell death. SUBUNIT: Interacts with the C-terminus of CACNA1E. TISSUE SPECIFICITY: Widely expressed. Not detected in lymphocytes. DISEASE: Defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]. EJM1 is a subtype of idiopathic generalized epilepsy (IGE). Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. DISEASE: Genetic variations in EFHC1 are the cause of susceptibility to juvenile absence epilepsy type 1 (JAE1) [MIM:607631]. JAE is a subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. SIMILARITY: Contains 3 DM10 domains. SIMILARITY: Contains 1 EF-hand domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/Myoclonin1/EFHC1";
Genetic Association Studies of Complex Diseases and Disorders
Albuminuria Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
migraine Suzuki, T. et al. 2004, Mutations in EFHC1 cause juvenile myoclonic epilepsy., Nature genetics. 2004 Aug;36(8):842-9.
Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals
Respiratory Function Tests Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics.
GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q5JVL4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.