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MCU mitochondrial calcium uniporter [ Homo sapiens (human) ]

Gene ID: 90550, updated on 1-Jul-2024

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; AllianceGenome:HGNC:23526
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
Enables calcium channel activity; identical protein binding activity; and uniporter activity. Involved in several processes, including positive regulation of mitochondrial calcium ion concentration; positive regulation of mitochondrial fission; and positive regulation of neutrophil chemotaxis. Acts upstream of or within calcium import into the mitochondrion. Located in mitochondrial inner membrane. Is integral component of mitochondrial inner membrane. Part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in stomach (RPKM 19.3), colon (RPKM 14.7) and 24 other tissues See more
Orthologs
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Genomic context

See MCU in Genome Data Viewer
Location:
10q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (72692143..72887694)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (73563507..73759075)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74451901..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 H3K27ac hESC enhancer GRCh37_chr10:74385604-74386141 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 34 Neighboring gene Sharpr-MPRA regulatory region 12193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2479 Neighboring gene uncharacterized LOC124902450 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:74516687-74517186 Neighboring gene microRNA 4676 Neighboring gene Sharpr-MPRA regulatory region 7737 Neighboring gene Sharpr-MPRA regulatory region 6662 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:74658515-74658725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3553 Neighboring gene Sharpr-MPRA regulatory region 12879 Neighboring gene uncharacterized LOC124902451 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

Clone Names

  • FLJ46135

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables uniporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables uniporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables uniporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within calcium import into the mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium import into the mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium import into the mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrial calcium ion homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in mitochondrial calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrial calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitochondrial calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of neutrophil chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
part_of uniplex complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of uniplex complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of uniplex complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of uniplex complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of uniplex complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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

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

    See identical proteins and their annotated locations for NP_001257608.1

    Status: REVIEWED

    Source sequence(s)
    AC016542, AC069548
    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_001270680.3NP_001257609.1  calcium uniporter protein, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001257609.1

    Status: REVIEWED

    Source sequence(s)
    AC016542, AC069548
    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_138357.3NP_612366.1  calcium uniporter protein, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_612366.1

    Status: REVIEWED

    Source sequence(s)
    AC016542, AC069548
    Consensus CDS
    CCDS7317.1
    UniProtKB/Swiss-Prot
    B2RDF3, B3KXV7, Q8NE86, Q96FL3
    Related
    ENSP00000362144.3, ENST00000373053.8
    Conserved Domains (1) summary
    pfam04678
    Location:118320
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    72692143..72887694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    73563507..73759075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)