U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 98363, updated on 5-Jan-2023

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 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Efhd1 in Genome Data Viewer
Location:
1; 1 C5
Exon count:
5
Annotation release Status Assembly Chr Location
109 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 predicted gene, 41911 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

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC103094

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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
PubMed 
enables calcium ion sensor activity ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
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
PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion HDA PubMed 

General protein information

Preferred Names
EF-hand domain-containing protein D1
Names
EF-hand domain-containing protein 1
swiprosin-2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_028889.3NP_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:95153
    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:96153
    EF-hand_7; EF-hand domain pair

RNA

  1. NR_151447.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC158961

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)