Efhd1 EF hand domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efhd1provided by MGI
Official Full Name: EF hand domain containing 1provided by MGI
Primary source: MGI:MGI:1921607
See related: Ensembl:ENSMUSG00000026255 AllianceGenome:MGI:1921607
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: PP3051; mitocalcin; 4931430I01Rik
Summary: Predicted to enable calcium ion binding activity and calcium ion sensor activity. Acts upstream of or within neuron projection development. Located in mitochondrial inner membrane. Is expressed in adrenal gland; cochlea; dorsal root ganglion; and embryo. Orthologous to human EFHD1 (EF-hand domain family member D1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in adrenal adult (RPKM 265.2), testis adult (RPKM 183.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C5; 1 44.15 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (87192075..87238563)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (87264353..87310841)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Regulation of axonal morphogenesis by the mitochondrial protein Efhd1.
Title: Regulation of axonal morphogenesis by the mitochondrial protein Efhd1.
coordinated expression of EFhd1 in pro B cells and by the pre BCR regulates metabolic changes and pro/pre B-cell development.
Title: A defined metabolic state in pre B cells governs B-cell development and is counterbalanced by Swiprosin-2/EFhd1.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW822015 (e-PCR)
- UniSTS:207188

AI452351 (e-PCR)
- UniSTS:178429

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium ion sensor activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion sensor activity	ISO Inferred from Sequence Orthology more info
enables calcium ion sensor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular hyperosmotic salinity response	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular hyperosmotic salinity response	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: EF-hand domain-containing protein D1

Names: EF-hand domain-containing protein 1; swiprosin-2

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_028889.3 → NP_083165.1 EF-hand domain-containing protein D1

See identical proteins and their annotated locations for NP_083165.1

Status: VALIDATED

Source sequence(s)

AC158961

Consensus CDS

CCDS15132.1

UniProtKB/Swiss-Prot

Q543U4, Q9D4J1

Related

ENSMUSP00000027472.7, ENSMUST00000027472.7

Conserved Domains (2) summary

cd00051
Location:95 → 153

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 ...

pfam13499
Location:96 → 153

EF-hand_7; EF-hand domain pair