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

    Gene ID: 63933, updated on 14-Mar-2013
    Official Symbol
    MCUR1provided by HGNC
    Official Full Name
    mitochondrial calcium uniporter regulator 1provided by HGNC
    Primary source
    HGNC:21097
    See related
    HPRD:12833
    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
    C6orf79; CCDC90A
    Location :
    6p23
    Sequence :
    Chromosome: 6; NC_000006.11 (13786781..13814792, complement)
    See MCUR1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene RAN binding protein 9 Neighboring gene nucleolar protein 7, 27kDa Neighboring gene ring finger protein 182 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 1 Neighboring gene CD83 molecule

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. MCUR1 is an essential component of mitochondrial Ca2+ uptake that regulates cellular metabolism. Mallilankaraman K, et al. Nat Cell Biol, 2012 Dec. PMID 23178883.
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624.
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
    4. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556.
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.

    See all (6) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ20958

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    calcium ion import IMP
    Inferred from Mutant Phenotype
    more info
    		  
    elevation of mitochondrial calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		  
    mitochondrial calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		  
    Component Evidence Code Pubs
    integral to mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    mitochondrial calcium uniporter regulator 1
    Names
    mitochondrial calcium uniporter regulator 1
    coiled-coil domain containing 90A
    coiled-coil domain-containing protein 90A, mitochondrial

    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_001031713.3 → NP_001026883.1  mitochondrial calcium uniporter regulator 1

      Status: VALIDATED

      Source sequence(s)
      AI309194, AL023583, BC016850, BP382285
      Consensus CDS
      CCDS35495.1
      UniProtKB/Swiss-Prot
      Q96AQ8
      Conserved Domains (1) summary
      pfam07798
      Location:165 – 359
      Blast Score: 644
      DUF1640; Protein of unknown function (DUF1640)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      13786781..13814792, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      13731124..13759219, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      13710212..13738226, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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
    genomic ABBA01022132.1 None
    genomic ABBA01022133.1 None
    genomic AL023583.25 (28241..56252) None
    genomic AMYH01016097.1 (17481..45495) None
    genomic CH471087.1 EAW55346.1
      EAW55347.1
      EAW55348.1
    mRNA AI309194.1 None
    mRNA AK024611.1 BAB14934.1
    mRNA AK123750.1 None
    mRNA BC008234.1 AAH08234.1
    mRNA BC016850.1 AAH16850.1
    mRNA BP382285.1 None
    mRNA BX640678.1 None
    mRNA DA892975.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AQ8.1 GenPept UniProtKB/Swiss-Prot:Q96AQ8

    Gene LinkOut

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

    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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