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    Micu1 mitochondrial calcium uptake 1 [ Mus musculus (house mouse) ]

    Gene ID: 216001, updated on 2-Nov-2024

    Summary

    Official Symbol
    Micu1provided by MGI
    Official Full Name
    mitochondrial calcium uptake 1provided by MGI
    Primary source
    MGI:MGI:2384909
    See related
    Ensembl:ENSMUSG00000020111 AllianceGenome:MGI:2384909
    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
    Calc; Cbara1; C730016L05Rik
    Summary
    Enables calcium ion binding activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion and positive regulation of cristae formation. Located in mitochondrial intermembrane space. Part of calcium channel complex. Is active in mitochondrial inner membrane. Is expressed in several structures, including genitourinary system; liver; nervous system; parathyroid gland; and respiratory system. Human ortholog(s) of this gene implicated in myopathy with extrapyramidal signs. Orthologous to human MICU1 (mitochondrial calcium uptake 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 46.0), duodenum adult (RPKM 43.8) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Micu1 in Genome Data Viewer
    Location:
    10 B4; 10 29.6 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (59538385..59699956)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (59702563..59864134)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_26775 Neighboring gene 40S ribosomal protein S24 pseudogene Neighboring gene predicted gene, 40672 Neighboring gene STARR-seq mESC enhancer starr_26776 Neighboring gene STARR-positive B cell enhancer ABC_E3886 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:59255665-59255866 Neighboring gene STARR-seq mESC enhancer starr_26778 Neighboring gene predicted gene 17059 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene Neighboring gene predicted gene, 23803 Neighboring gene STARR-seq mESC enhancer starr_26780 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:59342224-59342333 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:59359601-59359774 Neighboring gene STARR-positive B cell enhancer ABC_E10610 Neighboring gene predicted gene 7413 Neighboring gene DnaJ heat shock protein family (Hsp40) member B12 Neighboring gene predicted gene, 46226

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC29229, MGC36365, MGC36503, MGC36634

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium channel inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium channel inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium ion sensor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion sensor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in calcium import into the mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium import into the mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium import into the mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium import into the mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium import into the mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion import ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to calcium ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cristae formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cristae formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mitochondrial calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mitochondrial calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    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
    part_of calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial crista junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial crista junction ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    part_of uniplex complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of uniplex complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of uniplex complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    calcium uptake protein 1, mitochondrial
    Names
    calcium binding atopy-related autoantigen 1

    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_001291442.1NP_001278371.1  calcium uptake protein 1, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001278371.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC155827, AC155939, AK046049
      Consensus CDS
      CCDS78817.1
      UniProtKB/Swiss-Prot
      Q8VCX5
      Related
      ENSMUSP00000020311.7, ENSMUST00000020311.13
      Conserved Domains (1) summary
      pfam13202
      Location:231254
      EF-hand_5; EF hand
    2. NM_001291443.1NP_001278372.1  calcium uptake protein 1, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001278372.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC155827, AC155939, BC023022
      Consensus CDS
      CCDS78818.1
      UniProtKB/Swiss-Prot
      Q8VCX5
      Related
      ENSMUSP00000090166.6, ENSMUST00000092508.12
      Conserved Domains (1) summary
      pfam13202
      Location:229252
      EF-hand_5; EF hand
    3. NM_001359267.1NP_001346196.1  calcium uptake protein 1, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC155827, AC155939, AK050113, CX240738
      Conserved Domains (1) summary
      cd16173
      Location:226445
      EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
    4. NM_144822.3NP_659071.1  calcium uptake protein 1, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_659071.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC155827, AC155939, AK050113
      Consensus CDS
      CCDS35909.1
      UniProtKB/Swiss-Prot
      Q8BK07, Q8BL84, Q8R1W0, Q8VCX5
      Related
      ENSMUSP00000126597.2, ENSMUST00000165563.8
      Conserved Domains (1) summary
      pfam13202
      Location:225248
      EF-hand_5; EF hand

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      59538385..59699956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155734.1XP_036011627.1  calcium uptake protein 1, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd15900
      Location:4979
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:1213
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins