Efhc1 EF-hand domain (C-terminal) containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efhc1provided by MGI
Official Full Name: EF-hand domain (C-terminal) containing 1provided by MGI
Primary source: MGI:MGI:1919127
See related: Ensembl:ENSMUSG00000041809 AllianceGenome:MGI:1919127
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mRib72-1; myoclonin1; 1700029F22Rik
Summary: Predicted to enable alpha-tubulin binding activity. Involved in flagellated sperm motility. Located in axoneme and neuronal cell body. Is active in axonemal A tubule inner sheath and sperm flagellum. Is expressed in several structures, including brain; epithelium; future hindbrain roof plate; spinal cord ventricular layer; and spleen. Used to study juvenile myoclonic epilepsy. Human ortholog(s) of this gene implicated in juvenile absence epilepsy 1 and juvenile myoclonic epilepsy. Orthologous to human EFHC1 (EF-hand domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 84.4) and ovary adult (RPKM 3.4) See more
Orthologs: human all
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Genomic context

Location:: 1 A4; 1 6.5 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (21021776..21061065)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (20951553..20990841)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.
Title: Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.
We reviewed whether variants damage EFHC1 functions, whether efhc1(-/-) KO mice recapitulate CTC convulsions and "microdysgenesis" neuropathology, and whether supernumerary synaptic and dendritic phenotypes can be rescued in the fly model when EFHC1 is overexpressed
Title: EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Efhc1 (-/-) mouse did not show any abnormalities such as disruption of mitotic spindle structure, impaired M-phase progression, and an increase of apoptosis. Further investigations are required to clarify these discrepancies.
Title: Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
Title: The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
In the adult, low mRNA expression was detected in several brain structures such as cortex, striatum, hippocampus and cerebellum. At E16, EFHC1 mRNA was shown to be expressed in all layers of cortex and not only in cells lining ventricles.
Title: Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.
Data report the expression profile and distribution of Efhc1 messenger RNA during mouse and rat brain development, and suggest that Efhc1 expression is more important during initial phases of brain development.
Title: Expression profile and distribution of Efhc1 gene transcript during rodent brain development.
Decrease or loss of function of myoclonin1 may be the molecular basis for epilepsies caused by EFHC1 mutations.
Title: Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
Efhc1 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.
abundantly present in sperm flagella and tracheal cilia but only in a small amount in the brain
Title: The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
enables alpha-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebral cortex cell migration	ISO Inferred from Sequence Orthology more info
involved_in cilium-dependent cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular calcium ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cytokinesis	ISO Inferred from Sequence Orthology more info
involved_in mitotic cytokinesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle organization	ISO Inferred from Sequence Orthology more info
involved_in mitotic spindle organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell division	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in axonemal A tubule inner sheath	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISO Inferred from Sequence Orthology more info
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EF-hand domain-containing protein 1

Names: myoclonin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_027974.1 → NP_082250.1 EF-hand domain-containing protein 1

See identical proteins and their annotated locations for NP_082250.1

Status: VALIDATED

Source sequence(s)

AC156980, AK006489, BY037196, EU520262

Consensus CDS

CCDS48227.1

UniProtKB/Swiss-Prot

Q9D9T8

UniProtKB/TrEMBL

B2CKC6

Related

ENSMUSP00000042343.5, ENSMUST00000038447.6

Conserved Domains (4) summary

smart00676
Location:416 → 520

DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases

cd00051
Location:587 → 647

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam06565
Location:122 → 153

DUF1126; Repeat of unknown function (DUF1126)

pfam13499
Location:587 → 646

EF-hand_7; EF-hand domain pair