EFHC1

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.[5]

EFHC1
Identifiers
AliasesEFHC1, EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
External IDsOMIM: 608815 MGI: 1919127 HomoloGene: 10003 GeneCards: EFHC1
Orthologs
SpeciesHumanMouse
Entrez

114327

71877

Ensembl

ENSG00000096093

ENSMUSG00000041809

UniProt

Q5JVL4

Q9D9T8

RefSeq (mRNA)

NM_001172420
NM_018100

NM_027974

RefSeq (protein)

NP_001165891
NP_060570
NP_001165891.1
NP_060570.2

NP_082250

Location (UCSC)Chr 6: 52.36 – 52.53 MbChr 1: 21.02 – 21.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Not all variants of EFHC1 are pathogenic.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000096093 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041809 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1".
  6. Subaran RL, Conte JM, Stewart WC, Greenberg DA (2015). "Common EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry". Epilepsia. 56 (2): 188–94. doi:10.1111/epi.12864. PMC 4354299. PMID 25489633.

Further reading


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