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

Gene ID: 55013, updated on 5-Mar-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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See MCUB in Genome Data Viewer
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 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
  
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

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

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