MCUR1 mitochondrial calcium uniporter regulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCUR1provided by HGNC
Official Full Name: mitochondrial calcium uniporter regulator 1provided by HGNC
Primary source: HGNC:HGNC:21097
See related: Ensembl:ENSG00000050393 MIM:616952; AllianceGenome:HGNC:21097
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FMP32; C6orf79; CCDC90A
Summary: Involved in calcium import into the mitochondrion and positive regulation of mitochondrial calcium ion concentration. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 10.8), kidney (RPKM 9.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (13786557..13814557, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (13660160..13688158, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (13786789..13814789, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MCUR1 is a prognostic biomarker for ovarian cancer patients.
Title: MCUR1 is a prognostic biomarker for ovarian cancer patients.
Yeast homologs of human MCUR1 regulate mitochondrial proline metabolism.
Title: Yeast homologs of human MCUR1 regulate mitochondrial proline metabolism.
Results found MCUR1 expression significantly higher in HCC with metastasis and associated with tumor progression. The essential role of MCUR1 in promoting epithelial-mesenchymal transition, invasion and migration was found through the activation of ROS/Nrf2/Notch signaling by inducing mitochondrial Ca2+ uptake.
Title: MCUR1 facilitates epithelial-mesenchymal transition and metastasis via the mitochondrial calcium dependent ROS/Nrf2/Notch pathway in hepatocellular carcinoma.
The survival advantage conferred by MCUR1-mediated mitochondrial Ca(2+) uptake was majorly caused by elevated production of mitochondrial reactive oxygen species and subsequent AKT/MDM2- induced P53 degradation.
Title: MCUR1-Mediated Mitochondrial Calcium Signaling Facilitates Cell Survival of Hepatocellular Carcinoma via Reactive Oxygen Species-Dependent P53 Degradation.
MCUR1 regulates the calcium threshold for the mitochondrial permeability transition.
Title: Mitochondrial calcium uniporter regulator 1 (MCUR1) regulates the calcium threshold for the mitochondrial permeability transition.
Data suggest that MCU regulator (EMRE) might be a structural factor for opening of the mitochondrial calcium uniporter (MCU)-forming pore.
Title: Analysis of the structure and function of EMRE in a yeast expression system.
CCDC90A is not directly implicated in MCU function, and that the Ca2+ uptake defect associated with loss of CCDC90A function is likely secondary to the respiratory chain deficiency.
Title: CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

D11S2921 (e-PCR)
- UniSTS:152074

RH16354 (e-PCR)
- UniSTS:22319

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P4 (e-PCR)
- UniSTS:271411

D10S2448 (e-PCR)
- UniSTS:474444

SHGC-132423 (e-PCR)
- UniSTS:170835

RH99047 (e-PCR)
- UniSTS:88958

SHGC-31321 (e-PCR)
- UniSTS:43945

D1S2504E (e-PCR)
- UniSTS:154029

D15S1390 (e-PCR)
- UniSTS:474340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mitochondrial calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: mitochondrial calcium uniporter regulator 1

Names: MCU regulator 1; coiled-coil domain containing 90A; coiled-coil domain-containing protein 90A, mitochondrial; epididymis secretory sperm binding protein

NP_001026883.1

EC 1.1.1.41

XP_011513104.1

EC 1.1.1.41

XP_047275205.1

EC 1.1.1.41

XP_054212188.1

EC 1.1.1.41

XP_054212189.1

EC 1.1.1.41

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_001031713.4 → NP_001026883.1 mitochondrial calcium uniporter regulator 1

See identical proteins and their annotated locations for NP_001026883.1

Status: VALIDATED

Source sequence(s)

AL023583

Consensus CDS

CCDS35495.1

UniProtKB/Swiss-Prot

Q96AQ8, Q96JS7, Q9H7F8

UniProtKB/TrEMBL

A0A384NPW7

Related

ENSP00000368468.3, ENST00000379170.9

Conserved Domains (1) summary

pfam07798
Location:166 → 357

DUF1640; Protein of unknown function (DUF1640)

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

13786557..13814557 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419249.1 → XP_047275205.1 mitochondrial calcium uniporter regulator 1 isoform X1
XM_011514802.2 → XP_011513104.1 mitochondrial calcium uniporter regulator 1 isoform X2

Conserved Domains (1) summary

pfam07798
Location:166 → 341

DUF1640; Protein of unknown function (DUF1640)

RNA

XR_007059329.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

13660160..13688158 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356213.1 → XP_054212188.1 mitochondrial calcium uniporter regulator 1 isoform X1
XM_054356214.1 → XP_054212189.1 mitochondrial calcium uniporter regulator 1 isoform X2

RNA

XR_008487425.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_022102.1: Suppressed sequence

Description

NM_022102.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate. Both the transcript and the protein have no support.