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    MCUB mitochondrial calcium uniporter dominant negative subunit beta [ Homo sapiens (human) ]

    Gene ID: 55013, updated on 2-May-2024

    Summary

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    Official Symbol
    MCUBprovided by HGNC
    Official Full Name
    mitochondrial calcium uniporter dominant negative subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:26076
    See related
    Ensembl:ENSG00000005059 MIM:620702; AllianceGenome:HGNC:26076
    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
    CCDC109B
    Summary
    Predicted to enable calcium channel inhibitor activity. Predicted to be involved in calcium import into the mitochondrion and mitochondrial calcium ion homeostasis. Located in mitochondrion and nucleoplasm. Is integral component of mitochondrial inner membrane. Part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lymph node (RPKM 15.3), appendix (RPKM 10.9) and 21 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    4q25
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (109560246..109688719)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (112862358..112990653)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110481402..110609875)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21803 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:110487413-110487630 Neighboring gene CDC42 pseudogene 4 Neighboring gene SET pseudogene 20 Neighboring gene uncharacterized LOC124900755 Neighboring gene NANOG hESC enhancer GRCh37_chr4:110537978-110538479 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 14 Neighboring gene caspase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21806 Neighboring gene phospholipase A2 group XIIA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:110651344-110652220 Neighboring gene complement factor I

    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
    • 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. Coiled-coil domain containing 109B is a HIF1α-regulated gene critical for progression of human gliomas. Xu R, et al. J Transl Med, 2017 Jul 28. PMID 28754121, Free PMC Article
    2. The mitochondrial calcium uniporter is a multimer that can include a dominant-negative pore-forming subunit. Raffaello A, et al. EMBO J, 2013 Aug 28. PMID 23900286, Free PMC Article
    3. MCUB Regulates the Molecular Composition of the Mitochondrial Calcium Uniporter Channel to Limit Mitochondrial Calcium Overload During Stress. Lambert JP, et al. Circulation, 2019 Nov 19. PMID 31533452, Free PMC Article
    4. EMRE is an essential component of the mitochondrial calcium uniporter complex. Sancak Y, et al. Science, 2013 Dec 13. PMID 24231807, Free PMC Article
    5. Seven new loci associated with age-related macular degeneration. Fritsche LG, et al. Nat Genet, 2013 Apr. PMID 23455636, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MCUB-dependent changes in mitochondrial calcium uniporter stoichiometry are a prominent regulatory mechanism to modulate mitochondrial Ca(2+) uptake and cardiac myocyte cellular physiology.
      Title: MCUB Regulates the Molecular Composition of the Mitochondrial Calcium Uniporter Channel to Limit Mitochondrial Calcium Overload During Stress.
    2. This study elucidated a role for CCDC109B as an oncogene and a prognostic marker in human gliomas.
      Title: Coiled-coil domain containing 109B is a HIF1α-regulated gene critical for progression of human gliomas.
    3. MCUb (also known as CCDC109b) is a paralogue of MCU (CCDC109a). MCUb physically resides within the mitochondrial uniporter complex (uniplex), which consists of the MCU, MCUb, EMRE, MICU1, and MICU2.
      Title: EMRE is an essential component of the mitochondrial calcium uniporter complex.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
    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

    EBI GWAS Catalog

    Description
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT enables monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial calcium ion homeostasis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of calcium import into the mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of skeletal muscle satellite cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of macrophage activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in skeletal muscle tissue regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm 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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    calcium uniporter regulatory subunit MCUb, mitochondrial
    Names
    coiled-coil domain containing 109B
    coiled-coil domain-containing protein 109B
    mitochondrial calcium uniporter dominant negative beta subunit
    mitochondrial calcium uniporter regulatory subunit MCUb

    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_017918.5 → NP_060388.2  calcium uniporter regulatory subunit MCUb, mitochondrial

      See identical proteins and their annotated locations for NP_060388.2

      Status: VALIDATED

      Source sequence(s)
      AC004067, AK291098, BC002633, BM830891
      Consensus CDS
      CCDS3683.2
      UniProtKB/Swiss-Prot
      A8K4Y3, Q6IAC1, Q9NWR8
      Related
      ENSP00000378145.4, ENST00000394650.7
      Conserved Domains (1) summary
      pfam04678
      Location:102 → 305
      MCU; Mitochondrial calcium uniporter

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      109560246..109688719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714246.4 → XP_006714309.1  calcium uniporter regulatory subunit MCUb, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam04678
      Location:73 → 276
      MCU; Mitochondrial calcium uniporter

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      112862358..112990653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350319.1 → XP_054206294.1  calcium uniporter regulatory subunit MCUb, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWR8.2 GenPept UniProtKB/Swiss-Prot:Q9NWR8

    Gene LinkOut

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