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; OMA:EFHC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000096093Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041809Ensembl, 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

edit