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

Gene ID: 286097, updated on 23-Nov-2021

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
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Genomic context

See MICU3 in Genome Data Viewer
Location:
8p22
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17027238..17133069)
105.20201022 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 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 palmitoyltransferase 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
GeneReviews: Not available

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
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
part_of uniplex complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_001349810.2NP_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: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_146233.2 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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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