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

Gene ID: 286097, updated on 3-Apr-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
Summary
Predicted to enable calcium ion binding activity. Predicted to be involved in calcium import into the mitochondrion and mitochondrial calcium ion homeostasis. Predicted to be located in mitochondrial inner membrane. Predicted to be part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 2.9), adrenal (RPKM 1.3) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
8p22
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17027238..17138640)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17295130..17406209)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (16884747..16980151)

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
  • 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. 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
  2. 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
  3. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. Edwards AC, et al. Psychiatr Genet, 2012 Feb. PMID 22064162, Free PMC Article
  4. MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. Plovanich M, et al. PLoS One, 2013. PMID 23409044, Free PMC Article
  5. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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
  
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 NAS
Non-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 NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
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_2023_10

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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