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    MCU mitochondrial calcium uniporter [ Homo sapiens (human) ]

    Gene ID: 90550, updated on 6-Jun-2017
    Official Symbol
    MCUprovided by HGNC
    Official Full Name
    mitochondrial calcium uniporterprovided by HGNC
    Primary source
    HGNC:HGNC:23526
    See related
    Ensembl:ENSG00000156026 MIM:614197; Vega:OTTHUMG00000018443
    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
    HsMCU; C10orf42; CCDC109A
    Summary
    This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
    Orthologs
    Location:
    10q22.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (72692131..72887694)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74451889..74647452)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene mitochondrial calcium uptake 1 Neighboring gene RNA, 7SL, cytoplasmic 840, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 34 Neighboring gene microRNA 4676 Neighboring gene oncoprotein induced transcript 3 Neighboring gene nucleophosmin 1 pseudogene 24 Neighboring gene phospholipase A2 group XIIB

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ46135

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    uniporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    uniporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    uniplex complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    calcium uniporter protein, mitochondrial
    Names
    coiled-coil domain-containing protein 109A

    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_001270679.1NP_001257608.1  calcium uniporter protein, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257608.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains multiple differences in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC010682, HY146050
      Consensus CDS
      CCDS59218.1
      UniProtKB/Swiss-Prot
      Q8NE86
      Related
      ENSP00000349680.6, OTTHUMP00000019789, ENST00000357157.10, OTTHUMT00000048593
      Conserved Domains (1) summary
      pfam04678
      Location:117299
      MCU; Mitochondrial calcium uniporter
    2. NM_001270680.1NP_001257609.1  calcium uniporter protein, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001257609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK128016, BC010682
      Consensus CDS
      CCDS59219.1
      UniProtKB/Swiss-Prot
      Q8NE86
      Related
      ENSP00000440913.1, ENST00000536019.5
      Conserved Domains (1) summary
      pfam04678
      Location:68271
      MCU; Mitochondrial calcium uniporter
    3. NM_138357.2NP_612366.1  calcium uniporter protein, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_612366.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC010682, BC034235, HY146050
      Consensus CDS
      CCDS7317.1
      UniProtKB/Swiss-Prot
      Q8NE86
      Related
      ENSP00000362144.3, OTTHUMP00000019790, ENST00000373053.7, OTTHUMT00000048594
      Conserved Domains (1) summary
      pfam04678
      Location:117320
      MCU; Mitochondrial calcium uniporter

    RNA

    1. NR_073062.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate internal exons, 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)
      AK301475, BC010682, HY146050

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      72692131..72887694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016882.1XP_016872371.1  calcium uniporter protein, mitochondrial isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      74733636..74929181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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