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Aliases for MCUR1 Gene

Aliases for MCUR1 Gene

  • Mitochondrial Calcium Uniporter Regulator 1 2 3 5
  • Coiled-Coil Domain-Containing Protein 90A, Mitochondrial 3 4
  • Coiled-Coil Domain Containing 90A 2 3
  • MCU Regulator 1 3 4
  • C6orf79 3 4
  • CCDC90A 3 4
  • Chromosome 6 Open Reading Frame 79 2
  • FMP32 3

External Ids for MCUR1 Gene

Previous HGNC Symbols for MCUR1 Gene

  • C6orf79
  • CCDC90A

Summaries for MCUR1 Gene

GeneCards Summary for MCUR1 Gene

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1) is a Protein Coding gene. Among its related pathways are Ca, cAMP and Lipid Signaling. An important paralog of this gene is CCDC90B.

UniProtKB/Swiss-Prot for MCUR1 Gene

  • Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCUR1 Gene

Genomics for MCUR1 Gene

Regulatory Elements for MCUR1 Gene

Enhancers for MCUR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F013760 1.3 FANTOM5 Ensembl ENCODE 10.8 +52.3 52315 3.9 MAX BMI1 CEBPG RELA YY1 EED MTA2 ZBED1 CBFB CEBPB RANBP9 MCUR1 SIRT5 RNF182 GC06P013771
GH06F013794 0.7 ENCODE 13.1 +20.2 20205 0.1 JUNB MAFG REST EBF1 OSR2 ZNF316 JUND EED IKZF1 NFE2 MCUR1 RANBP9 RNF182 RNU7-133P GC06M013786 GC06P013802
GH06F013765 0.9 Ensembl ENCODE 10 +47.6 47577 2.8 CTCF ZNF362 REST ZNF384 RAD21 ZNF48 SCRT2 ZBTB33 NFE2 WT1 MCUR1 ENSG00000272209 GC06P013771 RANBP9
GH06F013708 1.5 FANTOM5 ENCODE 5.8 +103.8 103788 5.4 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 SLC30A9 SIRT5 RANBP9 MCUR1 CD83 TBC1D7 GC06P013623
GH06F013795 1.2 Ensembl ENCODE 6.9 +19.4 19379 0.4 ARNT SIN3A YBX1 ZNF2 ZNF766 CBX5 ZNF143 ZNF207 FOS DEK RANBP9 RNF182 RNU7-133P MCUR1 GC06M013786 GC06P013802
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCUR1 on UCSC Golden Path with GeneCards custom track

Promoters for MCUR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001211557 368 2401 PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF766

Genomic Location for MCUR1 Gene

Chromosome:
6
Start:
13,786,549 bp from pter
End:
13,814,568 bp from pter
Size:
28,020 bases
Orientation:
Minus strand

Genomic View for MCUR1 Gene

Genes around MCUR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCUR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCUR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCUR1 Gene

Proteins for MCUR1 Gene

  • Protein details for MCUR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AQ8-MCUR1_HUMAN
    Recommended name:
    Mitochondrial calcium uniporter regulator 1
    Protein Accession:
    Q96AQ8
    Secondary Accessions:
    • Q96JS7
    • Q9H7F8

    Protein attributes for MCUR1 Gene

    Size:
    359 amino acids
    Molecular mass:
    39694 Da
    Quaternary structure:
    • Interacts (via coiled coil regions) with MCU; the interaction is direct (PubMed:23178883, PubMed:26341627, PubMed:27184846, PubMed:26976564). Interacts with SMDT1/EMRE; the interaction is direct (PubMed:27184846). Interacts with PPIF (PubMed:26976564).

    Alternative splice isoforms for MCUR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCUR1 Gene

Post-translational modifications for MCUR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCUR1 Gene

No data available for DME Specific Peptides for MCUR1 Gene

Domains & Families for MCUR1 Gene

Protein Domains for MCUR1 Gene

Suggested Antigen Peptide Sequences for MCUR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96AQ8

UniProtKB/Swiss-Prot:

MCUR1_HUMAN :
  • Belongs to the CCDC90 family.
Family:
  • Belongs to the CCDC90 family.
genes like me logo Genes that share domains with MCUR1: view

No data available for Gene Families for MCUR1 Gene

Function for MCUR1 Gene

Molecular function for MCUR1 Gene

UniProtKB/Swiss-Prot Function:
Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846).

Gene Ontology (GO) - Molecular Function for MCUR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23178883
genes like me logo Genes that share ontologies with MCUR1: view

Phenotypes for MCUR1 Gene

GenomeRNAi human phenotypes for MCUR1:
genes like me logo Genes that share phenotypes with MCUR1: view

Animal Model Products

miRNA for MCUR1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MCUR1 Gene

Localization for MCUR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCUR1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCUR1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MCUR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 23178883
genes like me logo Genes that share ontologies with MCUR1: view

Pathways & Interactions for MCUR1 Gene

SuperPathways for MCUR1 Gene

SuperPathway Contained pathways
1 Ca, cAMP and Lipid Signaling
genes like me logo Genes that share pathways with MCUR1: view

Pathways by source for MCUR1 Gene

1 Cell Signaling Technology pathway for MCUR1 Gene

Interacting Proteins for MCUR1 Gene

Gene Ontology (GO) - Biological Process for MCUR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006851 mitochondrial calcium ion transport IMP 23178883
GO:0036444 mitochondrial calcium uptake IMP 26445506
genes like me logo Genes that share ontologies with MCUR1: view

No data available for SIGNOR curated interactions for MCUR1 Gene

Transcripts for MCUR1 Gene

Unigene Clusters for MCUR1 Gene

Mitochondrial calcium uniporter regulator 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCUR1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2:

Relevant External Links for MCUR1 Gene

GeneLoc Exon Structure for
MCUR1
ECgene alternative splicing isoforms for
MCUR1

Expression for MCUR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCUR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCUR1 Gene

This gene is overexpressed in Bone (16.1), Testis (8.5), and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MCUR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MCUR1 Gene:

MCUR1

SOURCE GeneReport for Unigene cluster for MCUR1 Gene:

Hs.214043

mRNA Expression by UniProt/SwissProt for MCUR1 Gene:

Q96AQ8-MCUR1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with MCUR1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MCUR1 Gene

Orthologs for MCUR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MCUR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC90A 34
  • 99.44 (n)
MCUR1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCUR1 34 35
  • 91.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCUR1 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC90A 34 35
  • 82.36 (n)
rat
(Rattus norvegicus)
Mammalia Mcur1 34
  • 77.51 (n)
mouse
(Mus musculus)
Mammalia Mcur1 34 16 35
  • 77.11 (n)
oppossum
(Monodelphis domestica)
Mammalia MCUR1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC90A 34
  • 68.35 (n)
MCUR1 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCUR1 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcur1 34
  • 65.71 (n)
Str.19448 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19315 34
zebrafish
(Danio rerio)
Actinopterygii MCUR1 35
  • 56 (a)
OneToOne
wufb37a05 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP32 37
Species where no ortholog for MCUR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MCUR1 Gene

ENSEMBL:
Gene Tree for MCUR1 (if available)
TreeFam:
Gene Tree for MCUR1 (if available)

Paralogs for MCUR1 Gene

Paralogs for MCUR1 Gene

(1) SIMAP similar genes for MCUR1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MCUR1 Gene

genes like me logo Genes that share paralogs with MCUR1: view

Variants for MCUR1 Gene

Sequence variations from dbSNP and Humsavar for MCUR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10214577 -- 13,804,485(+) AAGTA(A/G)AAGTC intron-variant
rs10214603 -- 13,804,559(+) cacga(A/G)gtcag intron-variant
rs10223600 -- 13,789,003(+) CTGAT(A/C)AAAAA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1053033 -- 13,786,852(-) CACAT(G/T)TTACA nc-transcript-variant, utr-variant-3-prime
rs1060117 -- 13,787,695(-) CTCTA(G/T)GTGCA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MCUR1 Gene

Variant ID Type Subtype PubMed ID
esv2664603 CNV deletion 23128226
esv3608137 CNV loss 21293372
nsv349719 CNV deletion 16902084

Variation tolerance for MCUR1 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCUR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCUR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCUR1 Gene

Disorders for MCUR1 Gene

Relevant External Links for MCUR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCUR1

No disorders were found for MCUR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCUR1 Gene

Publications for MCUR1 Gene

  1. MCUR1 is an essential component of mitochondrial Ca(2+) uptake that regulates cellular metabolism. (PMID: 23178883) Mallilankaraman K. … Madesh M. (Nat. Cell Biol. 2012) 2 3 4 64
  2. Mitochondrial calcium uniporter regulator 1 (MCUR1) regulates the calcium threshold for the mitochondrial permeability transition. (PMID: 26976564) Chaudhuri D. … Clapham D.E. (Proc. Natl. Acad. Sci. U.S.A. 2016) 3 4 64
  3. MCUR1 is a scaffold factor for the MCU complex function and promotes mitochondrial bioenergetics. (PMID: 27184846) Tomar D. … Madesh M. (Cell Rep. 2016) 3 4 64
  4. CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. (PMID: 25565209) Paupe V. … Shoubridge E.A. (Cell Metab. 2015) 3 4 64
  5. MCUR1, CCDC90A, is a regulator of the mitochondrial calcium uniporter. (PMID: 26445506) Vais H. … Foskett J.K. (Cell Metab. 2015) 3 4 64

Products for MCUR1 Gene

Sources for MCUR1 Gene

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