MCU mitochondrial calcium uniporter [Homo sapiens (human)] - Gene

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 cellular response to calcium ion starvation; positive regulation of mitochondrial calcium ion concentration; and positive regulation of mitochondrial fission. Located in mitochondrion. Part of uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in stomach (RPKM 19.3), colon (RPKM 14.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (72692143..72887694)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (73563507..73759075)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (74451901..74647452)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of Biochemical Parameters and Screening for Mutations in the MCU Gene in Alzheimer's Disease Patients.
Title: Association of Biochemical Parameters and Screening for Mutations in the MCU Gene in Alzheimer's Disease Patients.
MCU inhibition protects against intestinal ischemia-reperfusion by inhibiting Drp1-dependent mitochondrial fission.
Title: MCU inhibition protects against intestinal ischemia‒reperfusion by inhibiting Drp1-dependent mitochondrial fission.
Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca[2+] uptake and viability.
Title: Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca(2+) uptake and viability.
Mitochondrial Calcium Uniporter (MCU) that Modulates Mitochondrial Calcium Uptake and Facilitates Endometrial Cancer Progression through Interaction with VDAC1.
Title: Mitochondrial Calcium Uniporter (MCU) that Modulates Mitochondrial Calcium Uptake and Facilitates Endometrial Cancer Progression through Interaction with VDAC1.
Negative modulation of mitochondrial calcium uniporter complex protects neurons against ferroptosis.
Title: Negative modulation of mitochondrial calcium uniporter complex protects neurons against ferroptosis.
The mitochondrial calcium uniporter (MCU) activates mitochondrial respiration and enhances mobility by regulating mitochondrial redox state.
Title: The mitochondrial calcium uniporter (MCU) activates mitochondrial respiration and enhances mobility by regulating mitochondrial redox state.
Mitochondrial Calcium Uniporter Drives Metastasis and Confers a Targetable Cystine Dependency in Pancreatic Cancer.
Title: Mitochondrial Calcium Uniporter Drives Metastasis and Confers a Targetable Cystine Dependency in Pancreatic Cancer.
Dihydroartemisinin represses oral squamous cell carcinoma progression through downregulating mitochondrial calcium uniporter.
Title: Dihydroartemisinin represses oral squamous cell carcinoma progression through downregulating mitochondrial calcium uniporter.
The Mitochondrial Ca(2+) uniporter is a central regulator of interorganellar Ca(2+) transfer and NFAT activation.
Title: The Mitochondrial Ca(2+) uniporter is a central regulator of interorganellar Ca(2+) transfer and NFAT activation.
Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
Title: Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44656 (e-PCR)
- UniSTS:78857

SHGC-36107 (e-PCR)
- UniSTS:2093

AFMa066ya9 (e-PCR)
- UniSTS:14390

RH138309 (e-PCR)
- UniSTS:220396

RH44569 (e-PCR)
- UniSTS:29948

SHGC-33194 (e-PCR)
- UniSTS:32508

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 identical protein binding	IPI Inferred from Physical Interaction 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
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 cellular response to calcium ion starvation	IMP Inferred from Mutant Phenotype 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	HTP more info	PubMed
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

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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)

NM_001270679.2 → NP_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:117 → 299

MCU; Mitochondrial calcium uniporter
NM_001270680.3 → NP_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:69 → 271

MCU; Mitochondrial calcium uniporter
NM_138357.3 → NP_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:118 → 320

MCU; Mitochondrial calcium uniporter

RNA

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