Sequence Detail

ID/Version

Q9D9T8 (UniProt | EBI)

Last sequence update: 2001-06-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=EF-hand domain-containing protein 1;AltName: Full=Myoclonin-1;

Provider

SWISS-PROT

Sequence

Polypeptide 648 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Efhc1	EF-hand domain (C-terminal) containing 1	41	104	3	4

Sequence references in MGI

J:96170 Ikeda T, et al., The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella. FEBS Lett. 2005 Jan 31;579(3):819-22
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:114114 Suzuki T, et al., Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004 Aug;36(8):842-9
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:338030 Zhou L, et al., Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. Cell. 2023 Jun 22;186(13):2897-2910.e19
J:342625 Chen Z, et al., De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking. Cell. 2023 Nov 9;186(23):5041-5053.e19
J:352387 Tai L, et al., In-cell structural insight into the stability of sperm microtubule doublet. Cell Discov. 2023 Nov 21;9(1):116