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

    Gene ID: 63933, updated on 28-Oct-2024

    Summary

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    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; calcium ion import; and positive regulation of mitochondrial calcium ion concentration. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Oct 2024]
    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

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    See MCUR1 in Genome Data Viewer
    Location:
    6p23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13786557..13814557, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13660160..13688158, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13786789..13814789, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RAN binding protein 9 Neighboring gene U7 small nuclear RNA Neighboring gene Sharpr-MPRA regulatory region 12249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16937 Neighboring gene uncharacterized LOC124901264 Neighboring gene Sharpr-MPRA regulatory region 2979 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:13755870-13756079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24039 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13769328-13769828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13787884-13788716 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:13789385-13789553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16939 Neighboring gene uncharacterized LOC107986571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13872467-13873049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16941 Neighboring gene CRISPRi-validated cis-regulatory element chr6.697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13924078-13924578 Neighboring gene NANOG hESC enhancer GRCh37_chr6:13944174-13944689 Neighboring gene ring finger protein 182 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 1 Neighboring gene CRISPRi-validated cis-regulatory element chr6.702 Neighboring gene CRISPRi-validated cis-regulatory element chr6.703 Neighboring gene CRISPRi-validated cis-regulatory element chr6.704 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:14001334-14002533 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:14035147-14036346 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:14069795-14069896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24042 Neighboring gene NANOG hESC enhancer GRCh37_chr6:14088959-14089460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24043 Neighboring gene CRISPRi-FlowFISH-validated CD83 regulatory element GRCh37_chr6:14095567-14096067 Neighboring gene uncharacterized LOC105374939

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. MCUR1 is a prognostic biomarker for ovarian cancer patients. Fan L, et al. Cancer Biomark, 2022. PMID 34459387
    2. MCUR1 facilitates epithelial-mesenchymal transition and metastasis via the mitochondrial calcium dependent ROS/Nrf2/Notch pathway in hepatocellular carcinoma. Jin M, et al. J Exp Clin Cancer Res, 2019 Mar 25. PMID 30909929, Free PMC Article
    3. Analysis of the structure and function of EMRE in a yeast expression system. Yamamoto T, et al. Biochim Biophys Acta, 2016 Jun. PMID 27001609
    4. MCUR1-Mediated Mitochondrial Calcium Signaling Facilitates Cell Survival of Hepatocellular Carcinoma via Reactive Oxygen Species-Dependent P53 Degradation. Ren T, et al. Antioxid Redox Signal, 2018 Apr 20. PMID 28938844
    5. Yeast homologs of human MCUR1 regulate mitochondrial proline metabolism. Zulkifli M, et al. Nat Commun, 2020 Sep 25. PMID 32978391, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MCUR1 is a prognostic biomarker for ovarian cancer patients.
      Title: MCUR1 is a prognostic biomarker for ovarian cancer patients.
    2. Yeast homologs of human MCUR1 regulate mitochondrial proline metabolism.
      Title: Yeast homologs of human MCUR1 regulate mitochondrial proline metabolism.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20958

    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 
    located_in mitochondrion HTP 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
    XP_011513104.1
    XP_047275205.1
    XP_054212188.1
    XP_054212189.1

    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_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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      13786557..13814557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419249.1 → XP_047275205.1  mitochondrial calcium uniporter regulator 1 isoform X1

    2. 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

    1. XR_007059329.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      13660160..13688158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356213.1 → XP_054212188.1  mitochondrial calcium uniporter regulator 1 isoform X1

    2. XM_054356214.1 → XP_054212189.1  mitochondrial calcium uniporter regulator 1 isoform X2

    RNA

    1. XR_008487425.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AQ8.1 GenPept UniProtKB/Swiss-Prot:Q96AQ8

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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