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

Gene ID: 98363, updated on 11-Apr-2024

Summary

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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 sensor activity. Acts upstream of or within neuron projection development. Located in mitochondrial inner membrane. Is expressed in adrenal gland and cochlea. Orthologous to human EFHD1 (EF-hand domain family member D1). [provided by Alliance of Genome Resources, Apr 2022]
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

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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_000067.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4E member 2 Neighboring gene predicted gene, 53571 Neighboring gene predicted gene, 26187 Neighboring gene STARR-seq mESC enhancer starr_01611 Neighboring gene predicted gene, 41911 Neighboring gene STARR-positive B cell enhancer ABC_E985 Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene predicted gene, 22549 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. EFHD1 ablation inhibits cardiac mitoflash activation and protects cardiomyocytes from ischemia. Eberhardt DR, et al. J Mol Cell Cardiol, 2022 Jun. PMID 35304170, Free PMC Article
  2. A defined metabolic state in pre B cells governs B-cell development and is counterbalanced by Swiprosin-2/EFhd1. Stein M, et al. Cell Death Differ, 2017 Jul. PMID 28524857, Free PMC Article
  3. Novel genes cloned from a neuronal cell line newly established from a cerebellum of an adult p53(-/-) mouse. Tominaga M, et al. Biochem Biophys Res Commun, 2002 Sep 27. PMID 12270117
  4. Molecular characterization of mitocalcin, a novel mitochondrial Ca2+-binding protein with EF-hand and coiled-coil domains. Tominaga M, et al. J Neurochem, 2006 Jan. PMID 16336229
  5. Regulation of axonal morphogenesis by the mitochondrial protein Efhd1. Ulisse V, et al. Life Sci Alliance, 2020 Jul. PMID 32414840, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of axonal morphogenesis by the mitochondrial protein Efhd1.
    Title: Regulation of axonal morphogenesis by the mitochondrial protein Efhd1.
  2. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC103094

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 sensor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion sensor activity ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
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
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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 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)

  1. 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

RNA

  1. NR_151447.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC158961

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    87192075..87238563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D4J1.1 GenPept UniProtKB/Swiss-Prot:Q9D4J1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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