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

Gene ID: 10367, updated on 15-Apr-2019

Summary

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
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

Genomic context

See MICU1 in Genome Data Viewer
Location:
10q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (72367326..72626191, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74127084..74385949, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14427 Neighboring gene DnaJ heat shock protein family (Hsp40) member B12 Neighboring gene RNA, U6 small nuclear 805, pseudogene Neighboring gene sorting nexin 19 pseudogene 4 Neighboring gene RNA, 7SL, cytoplasmic 840, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 34 Neighboring gene microRNA 4676 Neighboring gene mitochondrial calcium uniporter

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12684, DKFZp564C246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
uniplex complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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.

Genomic

  1. NG_033179.1 RefSeqGene

    Range
    5001..263866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195518.2NP_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
    Q9BPX6
    Related
    ENSP00000354415.5, ENST00000361114.10
    Conserved Domains (1) summary
    cd16173
    Location:222441
    EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
  2. NM_001195519.1NP_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:2548
    EF-hand_5; EF hand
    pfam13499
    Location:1447
    EF-hand_7; EF-hand domain pair
  3. NM_001363513.1NP_001350442.1  calcium uptake protein 1, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC091769, AL513185
    Consensus CDS
    CCDS86101.1
    Conserved Domains (1) summary
    cd16173
    Location:228447
    EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
  4. NM_006077.3NP_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, BU627477
    UniProtKB/Swiss-Prot
    Q9BPX6
    Conserved Domains (1) summary
    pfam13202
    Location:225248
    EF-hand_5; EF hand

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.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    72367326..72626191 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam13202
    Location:279302
    EF-hand_5; EF hand
  2. XM_005269383.2XP_005269440.1  calcium uptake protein 1, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A286YF11
    Related
    ENSP00000493232.1, ENST00000642044.1
    Conserved Domains (1) summary
    cd16173
    Location:228447
    EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
  3. XM_005269386.2XP_005269443.1  calcium uptake protein 1, mitochondrial isoform X3

    See identical proteins and their annotated locations for XP_005269443.1

    Related
    ENSP00000381747.4, ENST00000398763.8
    Conserved Domains (1) summary
    PRK14607
    Location:28123
    PRK14607; bifunctional glutamine amidotransferase/anthranilate phosphoribosyltransferase; Provisional

RNA

  1. XR_945586.2 RNA Sequence

  2. XR_001746993.2 RNA Sequence

  3. XR_001746994.2 RNA Sequence

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