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    MICU3 mitochondrial calcium uptake family member 3 [ Homo sapiens (human) ]

    Gene ID: 286097, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MICU3provided by HGNC
    Official Full Name
    mitochondrial calcium uptake family member 3provided by HGNC
    Primary source
    HGNC:HGNC:27820
    See related
    Ensembl:ENSG00000155970 MIM:610633; AllianceGenome:HGNC:27820
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EFHA2; hMICU3
    Summary
    Enables calcium ion sensor activity and protein heterodimerization activity. Involved in calcium import into the mitochondrion and cellular response to calcium ion. Located in mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 2.9), adrenal (RPKM 1.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MICU3 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17027238..17138640)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17295130..17406209)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (16884747..16996149)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379297 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102343 Neighboring gene RNA, 7SL, cytoplasmic 474, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:16801165-16801750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:16801751-16802334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27046 Neighboring gene fibroblast growth factor 20 Neighboring gene NANOG hESC enhancer GRCh37_chr8:16918455-16918956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18960 Neighboring gene uncharacterized LOC107986918 Neighboring gene ribosomal protein L9 pseudogene 20 Neighboring gene zinc finger DHHC-type palmitoyltransferase 2

    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 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. MICU3 Regulates Mitochondrial Calcium and Cardiac Hypertrophy. Roman B, et al. Circ Res, 2024 Jun 21. PMID 38747181,
    2. Dimerization of MICU Proteins Controls Ca(2+) Influx through the Mitochondrial Ca(2+) Uniporter. Xing Y, et al. Cell Rep, 2019 Jan 29. PMID 30699349
    3. MICU3 is a tissue-specific enhancer of mitochondrial calcium uptake. Patron M, et al. Cell Death Differ, 2019 Jan. PMID 29725115, Free PMC Article
    4. Molecular Tuning of the Axonal Mitochondrial Ca(2+) Uniporter Ensures Metabolic Flexibility of Neurotransmission. Ashrafi G, et al. Neuron, 2020 Feb 19. PMID 31862210, Free PMC Article
    5. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. Edwards AC, et al. Psychiatr Genet, 2012 Feb. PMID 22064162, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MICU3 Regulates Mitochondrial Calcium and Cardiac Hypertrophy.
      Title: MICU3 Regulates Mitochondrial Calcium and Cardiac Hypertrophy.
    2. multiple crystal structures of MICU2 and MICU3 from Homo sapiens, were determined.
      Title: Dimerization of MICU Proteins Controls Ca(2+) Influx through the Mitochondrial Ca(2+) Uniporter.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp313A0139

    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 sensor activity IDA
    Inferred from Direct Assay
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial calcium ion homeostasis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_positive_effect positive regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of uniplex complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of uniplex complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    calcium uptake protein 3, mitochondrial
    Names
    EF hand domain family A2
    EF-hand domain family, member A2
    EF-hand domain-containing family member A2
    mitochondrial uptake family, member 3

    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_001349810.2 → NP_001336739.1  calcium uptake protein 3, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in its central coding region, compared to variant 1. The encoded isoform (2) has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      AC079193, BC045553, BI546243, BX953026, DB548272
      Conserved Domains (2) summary
      cd16175
      Location:230 → 497
      EFh_MICU3; EF-hand, calcium binding motif, found in calcium uptake protein 3, mitochondrial (MICU3) and similar proteins
      cl25352
      Location:232 → 360
      EFh_PEF; The penta-EF hand (PEF) family

    2. NM_001413217.1 → NP_001400146.1  calcium uptake protein 3, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    3. NM_001413218.1 → NP_001400147.1  calcium uptake protein 3, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    4. NM_001413219.1 → NP_001400148.1  calcium uptake protein 3, mitochondrial isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    5. NM_001413221.1 → NP_001400150.1  calcium uptake protein 3, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305
      Related
      ENSP00000427765.1, ENST00000519044.5

    6. NM_001413222.1 → NP_001400151.1  calcium uptake protein 3, mitochondrial isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    7. NM_001413223.1 → NP_001400152.1  calcium uptake protein 3, mitochondrial isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    8. NM_001413224.1 → NP_001400153.1  calcium uptake protein 3, mitochondrial isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    9. NM_001413225.1 → NP_001400154.1  calcium uptake protein 3, mitochondrial isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    10. NM_001413226.1 → NP_001400155.1  calcium uptake protein 3, mitochondrial isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    11. NM_181723.3 → NP_859074.1  calcium uptake protein 3, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_859074.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC079193, BC045553, BI546243, BX953026, DB548272
      Consensus CDS
      CCDS5999.1
      UniProtKB/Swiss-Prot
      Q86XE3, Q8IYZ3
      Related
      ENSP00000321455.5, ENST00000318063.10
      Conserved Domains (3) summary
      PTZ00183
      Location:238 → 366
      PTZ00183; centrin; Provisional
      pfam13499
      Location:452 → 499
      EF-hand_7; EF-hand domain pair
      pfam13833
      Location:449 → 502
      EF-hand_8; EF-hand domain pair

    RNA

    1. NR_146233.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC079193, AC136305, BC045553, BI546243, BX953026, DB548272

    2. NR_182122.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    3. NR_182123.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    4. NR_182124.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079193, AC136305

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      17027238..17138640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013336.2 → XP_016868825.1  calcium uptake protein 3, mitochondrial isoform X1

    2. XM_024447133.2 → XP_024302901.1  calcium uptake protein 3, mitochondrial isoform X8

      Conserved Domains (2) summary
      cd15900
      Location:236 → 265
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:236 → 286
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins

    3. XM_024447134.2 → XP_024302902.1  calcium uptake protein 3, mitochondrial isoform X9

      Conserved Domains (2) summary
      cd15900
      Location:236 → 265
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:236 → 286
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins

    4. XM_024447135.2 → XP_024302903.1  calcium uptake protein 3, mitochondrial isoform X11

      Conserved Domains (2) summary
      cd15900
      Location:236 → 265
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:236 → 305
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins

    5. XM_017013337.2 → XP_016868826.1  calcium uptake protein 3, mitochondrial isoform X2

    6. XM_011544508.3 → XP_011542810.1  calcium uptake protein 3, mitochondrial isoform X7

      Conserved Domains (1) summary
      cl08302
      Location:237 → 271
      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 ...

    7. XM_047421709.1 → XP_047277665.1  calcium uptake protein 3, mitochondrial isoform X10

    8. XM_006716333.4 → XP_006716396.1  calcium uptake protein 3, mitochondrial isoform X12

      Conserved Domains (1) summary
      cl08302
      Location:237 → 271
      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 ...

    9. XM_017013338.2 → XP_016868827.1  calcium uptake protein 3, mitochondrial isoform X3

    10. XM_017013339.2 → XP_016868828.1  calcium uptake protein 3, mitochondrial isoform X4

    11. XM_047421707.1 → XP_047277663.1  calcium uptake protein 3, mitochondrial isoform X5

    12. XM_017013341.2 → XP_016868830.1  calcium uptake protein 3, mitochondrial isoform X6

    13. XM_017013343.2 → XP_016868832.1  calcium uptake protein 3, mitochondrial isoform X13

    RNA

    1. XR_007060729.1 RNA Sequence

    2. XR_001745514.2 RNA Sequence

    3. XR_001745515.3 RNA Sequence

    4. XR_001745517.2 RNA Sequence

    5. XR_949390.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      17295130..17406209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360314.1 → XP_054216289.1  calcium uptake protein 3, mitochondrial isoform X1

    2. XM_054360319.1 → XP_054216294.1  calcium uptake protein 3, mitochondrial isoform X8

    3. XM_054360320.1 → XP_054216295.1  calcium uptake protein 3, mitochondrial isoform X9

    4. XM_054360324.1 → XP_054216299.1  calcium uptake protein 3, mitochondrial isoform X11

    5. XM_054360315.1 → XP_054216290.1  calcium uptake protein 3, mitochondrial isoform X2

    6. XM_054360318.1 → XP_054216293.1  calcium uptake protein 3, mitochondrial isoform X7

    7. XM_054360323.1 → XP_054216298.1  calcium uptake protein 3, mitochondrial isoform X10

    8. XM_054360325.1 → XP_054216300.1  calcium uptake protein 3, mitochondrial isoform X12

    9. XM_054360326.1 → XP_054216301.1  calcium uptake protein 3, mitochondrial isoform X13

    10. XM_054360316.1 → XP_054216291.1  calcium uptake protein 3, mitochondrial isoform X14

    11. XM_054360317.1 → XP_054216292.1  calcium uptake protein 3, mitochondrial isoform X15

    12. XM_054360321.1 → XP_054216296.1  calcium uptake protein 3, mitochondrial isoform X16

    13. XM_054360322.1 → XP_054216297.1  calcium uptake protein 3, mitochondrial isoform X17

    RNA

    1. XR_008487838.1 RNA Sequence

    2. XR_008487839.1 RNA Sequence

    3. XR_008487837.1 RNA Sequence

    4. XR_008487840.1 RNA Sequence

    5. XR_008487841.1 RNA Sequence

    6. XR_008487842.1 RNA Sequence

    7. XR_008487843.1 RNA Sequence

    8. XR_008487844.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XE3.1 GenPept UniProtKB/Swiss-Prot:Q86XE3

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