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

    Gene ID: 286097, updated on 17-Jun-2019

    Summary

    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
    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
    Expression
    Ubiquitous expression in brain (RPKM 2.9), adrenal (RPKM 1.3) and 23 other tissues See more
    Orthologs

    Genomic context

    See MICU3 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17027238..17133069)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (16884747..16980148)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379297 Neighboring gene RNA, 7SL, cytoplasmic 474, pseudogene Neighboring gene fibroblast growth factor 20 Neighboring gene uncharacterized LOC107986918 Neighboring gene ribosomal protein L9 pseudogene 20 Neighboring gene zinc finger DHHC-type containing 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp313A0139

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    mitochondrial calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_001349810.1NP_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)
      BC045553, BI546243, BX953026, DB548272
      Conserved Domains (2) summary
      cd16175
      Location:230497
      EFh_MICU3; EF-hand, calcium binding motif, found in calcium uptake protein 3, mitochondrial (MICU3) and similar proteins
      cl25352
      Location:232360
      EFh_PEF; The penta-EF hand (PEF) family
    2. NM_181723.3NP_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
      Related
      ENSP00000321455.5, ENST00000318063.10
      Conserved Domains (3) summary
      PTZ00183
      Location:238366
      PTZ00183; centrin; Provisional
      pfam13499
      Location:452499
      EF-hand_7; EF-hand domain pair
      pfam13833
      Location:449502
      EF-hand_8; EF-hand domain pair

    RNA

    1. NR_146233.1 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)
      AC136305, BC045553, BI546243, BX953026, DB548272

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      17027238..17133069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716330.2XP_006716393.1  calcium uptake protein 3, mitochondrial isoform X5

      Conserved Domains (3) summary
      pfam13499
      Location:240307
      EF-hand_7; EF-hand domain pair
      pfam13833
      Location:326379
      EF-hand_8; EF-hand domain pair
      cl08302
      Location:237308
      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 ...
    2. XM_006716328.2XP_006716391.1  calcium uptake protein 3, mitochondrial isoform X3

      Conserved Domains (3) summary
      PTZ00183
      Location:238334
      PTZ00183; centrin; Provisional
      pfam13499
      Location:420467
      EF-hand_7; EF-hand domain pair
      pfam13833
      Location:417470
      EF-hand_8; EF-hand domain pair
    3. XM_005273477.2XP_005273534.1  calcium uptake protein 3, mitochondrial isoform X1

      Conserved Domains (2) summary
      PTZ00183
      Location:238353
      PTZ00183; centrin; Provisional
      pfam13833
      Location:436489
      EF-hand_8; EF-hand domain pair
    4. XM_006716329.2XP_006716392.1  calcium uptake protein 3, mitochondrial isoform X4

      Conserved Domains (3) summary
      PTZ00183
      Location:238321
      PTZ00183; centrin; Provisional
      pfam13499
      Location:407454
      EF-hand_7; EF-hand domain pair
      pfam13833
      Location:404457
      EF-hand_8; EF-hand domain pair
    5. XM_017013336.1XP_016868825.1  calcium uptake protein 3, mitochondrial isoform X2

    6. XM_024447133.1XP_024302901.1  calcium uptake protein 3, mitochondrial isoform X13

      Conserved Domains (2) summary
      cd15900
      Location:236265
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:236286
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins
    7. XM_024447134.1XP_024302902.1  calcium uptake protein 3, mitochondrial isoform X14

      Conserved Domains (2) summary
      cd15900
      Location:236265
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:236286
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins
    8. XM_024447135.1XP_024302903.1  calcium uptake protein 3, mitochondrial isoform X15

      Conserved Domains (2) summary
      cd15900
      Location:236265
      EFh_MICU; EF-hand motif [structural motif]
      cl28896
      Location:236305
      EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins
    9. XM_017013337.1XP_016868826.1  calcium uptake protein 3, mitochondrial isoform X6

    10. XM_011544508.2XP_011542810.1  calcium uptake protein 3, mitochondrial isoform X12

      Conserved Domains (1) summary
      cl08302
      Location:237271
      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 ...
    11. XM_006716333.3XP_006716396.1  calcium uptake protein 3, mitochondrial isoform X16

      Conserved Domains (1) summary
      cl08302
      Location:237271
      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 ...
    12. XM_017013338.1XP_016868827.1  calcium uptake protein 3, mitochondrial isoform X7

    13. XM_017013339.1XP_016868828.1  calcium uptake protein 3, mitochondrial isoform X8

    14. XM_017013341.1XP_016868830.1  calcium uptake protein 3, mitochondrial isoform X10

    15. XM_017013343.1XP_016868832.1  calcium uptake protein 3, mitochondrial isoform X17

    16. XM_017013340.1XP_016868829.1  calcium uptake protein 3, mitochondrial isoform X9

    17. XM_017013342.1XP_016868831.1  calcium uptake protein 3, mitochondrial isoform X11

      Related
      ENSP00000427765.1, ENST00000519044.5

    RNA

    1. XR_001745514.1 RNA Sequence

    2. XR_001745513.1 RNA Sequence

    3. XR_001745515.2 RNA Sequence

    4. XR_001745520.1 RNA Sequence

    5. XR_001745521.1 RNA Sequence

    6. XR_001745516.1 RNA Sequence

    7. XR_001745518.1 RNA Sequence

    8. XR_001745522.1 RNA Sequence

    9. XR_001745519.1 RNA Sequence

    10. XR_001745517.1 RNA Sequence

    11. XR_949390.2 RNA Sequence

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