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MICU1 mitochondrial calcium uptake 1 [ Homo sapiens (human) ]

Gene ID: 10367, updated on 3-Apr-2024

Summary

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Official Symbol
MICU1provided by HGNC
Official Full Name
mitochondrial calcium uptake 1provided by HGNC
Primary source
HGNC:HGNC:1530
See related
Ensembl:ENSG00000107745 MIM:605084; AllianceGenome:HGNC:1530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CALC; EFHA3; MPXPS; CBARA1; ara CALC
Summary
This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
Expression
Ubiquitous expression in kidney (RPKM 30.5), adrenal (RPKM 20.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See MICU1 in Genome Data Viewer
Location:
10q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (72367340..72626079, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (73238332..73497425, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74127098..74385837, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74035325-74035848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74046277-74046777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2471 Neighboring gene Sharpr-MPRA regulatory region 1217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2472 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74057879-74058535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74069939-74070924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2473 Neighboring gene Sharpr-MPRA regulatory region 14427 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:74081426-74082625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74084563-74085524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2474 Neighboring gene DNA damage inducible transcript 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3549 Neighboring gene DnaJ heat shock protein family (Hsp40) member B12 Neighboring gene RNA, U6 small nuclear 805, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74182311-74183044 Neighboring gene sorting nexin 19 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2475 Neighboring gene COX7C pseudogene 4 Neighboring gene RNA, 7SL, cytoplasmic 840, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74385604-74386141 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 34 Neighboring gene Sharpr-MPRA regulatory region 12193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2479 Neighboring gene microRNA 4676 Neighboring gene mitochondrial calcium uniporter

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular pathophysiology of human MICU1 deficiency. Kohlschmidt N, et al. Neuropathol Appl Neurobiol, 2021 Oct. PMID 33428302
  2. MICU1 controls cristae junction and spatially anchors mitochondrial Ca(2+) uniporter complex. Gottschalk B, et al. Nat Commun, 2019 Aug 19. PMID 31427612, Free PMC Article
  3. Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca(2+) levels and tumor growth. Marchi S, et al. EMBO J, 2019 Jan 15. PMID 30504268, Free PMC Article
  4. MICU1 drives glycolysis and chemoresistance in ovarian cancer. Chakraborty PK, et al. Nat Commun, 2017 May 22. PMID 28530221, Free PMC Article
  5. Pathological consequences of MICU1 mutations on mitochondrial calcium signalling and bioenergetics. Bhosale G, et al. Biochim Biophys Acta Mol Cell Res, 2017 Jun. PMID 28132899, Free PMC Article

See all (84) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
    Title: Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
  2. The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
    Title: The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
  3. Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.
    Title: Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.
  4. Molecular pathophysiology of human MICU1 deficiency.
    Title: Molecular pathophysiology of human MICU1 deficiency.
  5. Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
    Title: Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
  6. Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.
    Title: Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.
  7. The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.
    Title: The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.
  8. Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.
    Title: Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.
  9. Dysregulation of Mitochondrial Ca(2+) Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.
    Title: Dysregulation of Mitochondrial Ca(2+) Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.
  10. MICU1 confers Ca(2+)-dependent gating of the uniporter by blocking/unblocking MCU.
    Title: The conserved aspartate ring of MCU mediates MICU1 binding and regulation in the mitochondrial calcium uniporter complex.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Proximal myopathy with extrapyramidal signs
MedGen: C3810285 OMIM: 615673 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12684, DKFZp564C246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
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 NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in calcium ion import IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response TAS
Traceable Author Statement
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of mitochondrial calcium ion concentration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cellular hyperosmotic salinity response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
part_of uniplex complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of uniplex complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of uniplex complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of uniplex complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of uniplex complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_033179.1 RefSeqGene

    Range
    5113..263852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195518.2 → NP_001182447.1  calcium uptake protein 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001182447.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC091769, AK023318, AL513185
    Consensus CDS
    CCDS55715.1
    UniProtKB/Swiss-Prot
    A8MV96, B3KN20, B4DJH9, B4DPI1, B5MBY3, D3YTJ3, O75785, Q9BPX6, Q9H9N6, Q9UFX0
    UniProtKB/TrEMBL
    A0A0U1RRK1
    Related
    ENSP00000354415.5, ENST00000361114.10
    Conserved Domains (1) summary
    cd16173
    Location:222 → 441
    EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins

  2. NM_001195519.2 → NP_001182448.1  calcium uptake protein 1, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001182448.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation to occur at a downstream start codon compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1. In the absence of experimental data indicating otherwise, isoform 3 is presumed to be localized to the mitochondria, similarly to isoforms 1 and 2.
    Source sequence(s)
    AK296086, AL513185, BU627477
    Consensus CDS
    CCDS55714.1
    UniProtKB/Swiss-Prot
    Q9BPX6
    Related
    ENSP00000402470.2, ENST00000418483.6
    Conserved Domains (2) summary
    pfam13202
    Location:25 → 48
    EF-hand_5; EF hand
    pfam13499
    Location:14 → 47
    EF-hand_7; EF-hand domain pair

  3. NM_001363513.2 → NP_001350442.1  calcium uptake protein 1, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC091769, AL513185
    Consensus CDS
    CCDS86101.1
    UniProtKB/TrEMBL
    A0A0U1RRK1, A0A286YF11
    Related
    ENSP00000493232.1, ENST00000642044.1
    Conserved Domains (1) summary
    cd16173
    Location:228 → 447
    EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins

  4. NM_006077.4 → NP_006068.2  calcium uptake protein 1, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_006068.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AC091769, AL117423, AL513185
    UniProtKB/TrEMBL
    A0A0U1RRK1
    Conserved Domains (1) summary
    pfam13202
    Location:225 → 248
    EF-hand_5; EF hand

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    72367340..72626079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539119.2 → XP_011537421.1  calcium uptake protein 1, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A0U1RRK1
    Conserved Domains (1) summary
    pfam13202
    Location:279 → 302
    EF-hand_5; EF hand

  2. XM_047424441.1 → XP_047280397.1  calcium uptake protein 1, mitochondrial isoform X3

  3. XM_047424440.1 → XP_047280396.1  calcium uptake protein 1, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    73238332..73497425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364482.1 → XP_054220457.1  calcium uptake protein 1, mitochondrial isoform X1

  2. XM_054364483.1 → XP_054220458.1  calcium uptake protein 1, mitochondrial isoform X2

  3. XM_054364484.1 → XP_054220459.1  calcium uptake protein 1, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BPX6.1 GenPept UniProtKB/Swiss-Prot:Q9BPX6

Gene LinkOut

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

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