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MCU mitochondrial calcium uniporter [ Homo sapiens (human) ]

Gene ID: 90550, updated on 18-Aug-2020

Summary

Official Symbol
MCUprovided by HGNC
Official Full Name
mitochondrial calcium uniporterprovided by HGNC
Primary source
HGNC:HGNC:23526
See related
Ensembl:ENSG00000156026 MIM:614197
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]
Expression
Ubiquitous expression in stomach (RPKM 19.3), colon (RPKM 14.7) and 24 other tissues See more
Orthologs

Genomic context

See MCU in Genome Data Viewer
Location:
10q22.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 nucleophosmin 1 pseudogene 24 Neighboring gene oncoprotein induced transcript 3 Neighboring gene phospholipase A2 group XIIB

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46135

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
uniporter activity IDA
Inferred from Direct Assay
more info
PubMed 
uniporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
actin filament reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium import into the mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neutrophil chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein complex oligomerization IDA
Inferred from Direct Assay
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
uniplex complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
calcium uniporter protein, mitochondrial
Names
coiled-coil domain-containing protein 109A

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_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, ENST00000357157.10
    Conserved Domains (1) summary
    pfam04678
    Location:117299
    MCU; Mitochondrial calcium uniporter
  2. NM_001270680.2NP_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:69271
    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, ENST00000373053.7
    Conserved Domains (1) summary
    pfam04678
    Location:117320
    MCU; Mitochondrial calcium uniporter

RNA

  1. NR_073062.2 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017016882.2XP_016872371.1  calcium uniporter protein, mitochondrial isoform X1

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