EFHC1

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

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)[1] Band 6p12.2 Start 52,362,123 bp[1] End 52,529,886 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 A4 Start 21,021,850 bp[2] End 21,061,065 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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 Mb Chr 1: 21.02 – 21.06 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Not all variants of EFHC1 are pathogenic.^[6]