EFHC1

EFHC1
Identifiers
Aliases	EFHC1, EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
External IDs	OMIM: 608815; MGI: 1919127; HomoloGene: 10003; GeneCards: EFHC1; OMA:EFHC1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	52,529,886 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	21,061,065 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; right uterine tube; ; mucosa of paranasal sinus; ; sperm; ; olfactory zone of nasal mucosa; ; caput epididymis; ; Epithelium of choroid plexus; ; left testis; ; epithelium of nasopharynx; ; Pituitary Gland;
	Top expressed in
	spermatid; ; seminiferous tubule; ; spermatocyte; ; otolith organ; ; utricle; ; Epithelium of choroid plexus; ; vestibular sensory epithelium; ; choroid plexus of fourth ventricle; ; respiratory epithelium; ; olfactory epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein C-terminus binding; protein binding; alpha-tubulin binding;
Cellular component	cytoplasm; axoneme; soma; centrosome; spindle; mitotic spindle; cytoskeleton; microtubule organizing center; spindle pole;
Biological process	cerebral cortex cell migration; mitotic cytokinesis; mitotic spindle organization; regulation of cell division; cilium-dependent cell motility;
	Sources:Amigo / QuickGO
Orthologs
	114327
	71877
	ENSG00000096093
	ENSMUSG00000041809
	Q5JVL4
	Q9D9T8
	NM_001172420; NM_018100
	NM_027974
	NP_001165891; NP_060570; NP_001165891.1; NP_060570.2
	NP_082250
	Wikidata
View/Edit Human	View/Edit Mouse

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

Template:PBB Summary EFHC1 variants initially thought to be pathogenic in epilepsy were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene. ^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000096093 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041809 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1".
^ Subaran RL, Conte JM, Stewart WC, Greenberg DA (2015). "Pathogenic 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.

References

Further reading