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

    Gene ID: 55013, updated on 12-Aug-2018

    Summary

    Official Symbol
    MCUBprovided by HGNC
    Official Full Name
    mitochondrial calcium uniporter dominant negative beta subunitprovided by HGNC
    Primary source
    HGNC:HGNC:26076
    See related
    Ensembl:ENSG00000005059 Vega:OTTHUMG00000161103
    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
    Expression
    Broad expression in lymph node (RPKM 15.3), appendix (RPKM 10.9) and 21 other tissues See more
    Orthologs

    Genomic context

    See MCUB in Genome Data Viewer
    Location:
    4q25
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (109560199..109688719)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110481355..110608872)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cell division cycle 42 pseudogene 4 Neighboring gene SET pseudogene 20 Neighboring gene uncharacterized LOC107986302 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 14 Neighboring gene caspase 6 Neighboring gene phospholipase A2 group XIIA Neighboring gene complement factor I

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    calcium import into the mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    uniplex complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    uniplex complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_017918.4NP_060388.2  calcium uniporter regulatory subunit MCUb, mitochondrial

      See identical proteins and their annotated locations for NP_060388.2

      Status: VALIDATED

      Source sequence(s)
      AK291098, BC002633, BM830891, CN427680
      Consensus CDS
      CCDS3683.2
      UniProtKB/Swiss-Prot
      Q9NWR8
      Related
      ENSP00000378145.4, OTTHUMP00000162741, ENST00000394650.6, OTTHUMT00000254865
      Conserved Domains (1) summary
      pfam04678
      Location:102305
      MCU; Mitochondrial calcium uniporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      109560199..109688719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714246.3XP_006714309.1  calcium uniporter regulatory subunit MCUb, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam04678
      Location:73276
      MCU; Mitochondrial calcium uniporter
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