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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
  • C6orf79 3 4
  • CCDC90A 3 4
  • Chromosome 6 Open Reading Frame 79 2

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. 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. Plays a direct role in uniporter-mediated calcium uptake, possibly via a direct interaction with MCU.

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

Promoters for MCUR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCUR1 on UCSC Golden Path with GeneCards custom track

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 with MCU.

    Alternative splice isoforms for MCUR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCUR1 Gene

Proteomics data for MCUR1 Gene at MOPED

Post-translational modifications for MCUR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCUR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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. Plays a direct role in uniporter-mediated calcium uptake, possibly via a direct interaction with MCU.

Phenotypes for MCUR1 Gene

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

Animal Model Products

CRISPR Products

miRNA for MCUR1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for MCUR1 Gene

Pathways & Interactions for MCUR1 Gene

SuperPathways for MCUR1 Gene

No Data Available

Interacting Proteins for MCUR1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000368468%0d%0a9606.ENSP00000361057%0d%0a9606.ENSP00000253237%0d%0a9606.ENSP00000428765%0d%0a9606.ENSP00000305653%0d%0a
Selected Interacting proteins: ENSP00000368468 for MCUR1 Gene via STRING

Gene Ontology (GO) - Biological Process for MCUR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051561 positive regulation of mitochondrial calcium ion concentration IMP 23178883
genes like me logo Genes that share ontologies with MCUR1: view

No data available for Pathways by source and SIGNOR curated interactions for MCUR1 Gene

Drugs & Compounds for MCUR1 Gene

No Compound Related Data Available

Transcripts for MCUR1 Gene

Unigene Clusters for MCUR1 Gene

Mitochondrial calcium uniporter regulator 1:
Representative Sequences:

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 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, MOPED, and MaxQB for MCUR1 Gene



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

In Situ Assay 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 35
  • 99.44 (n)
  • 98.89 (a)
MCUR1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC90A 36
  • 74 (a)
OneToOne
CCDC90A 35
  • 82.36 (n)
  • 75.21 (a)
dog
(Canis familiaris)
Mammalia MCUR1 35
  • 91.87 (n)
  • 91.87 (a)
MCUR1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcur1 16
Mcur1 36
  • 72 (a)
OneToOne
Mcur1 35
  • 77.11 (n)
  • 75.9 (a)
oppossum
(Monodelphis domestica)
Mammalia MCUR1 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCUR1 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcur1 35
  • 77.51 (n)
  • 76.81 (a)
chicken
(Gallus gallus)
Aves MCUR1 36
  • 61 (a)
OneToOne
CCDC90A 35
  • 68.35 (n)
  • 67.44 (a)
lizard
(Anolis carolinensis)
Reptilia MCUR1 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19315 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mcur1 35
  • 65.71 (n)
  • 63.37 (a)
Str.19448 35
zebrafish
(Danio rerio)
Actinopterygii MCUR1 36
  • 56 (a)
OneToOne
wufb37a05 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP32 38
Species with no ortholog for MCUR1:
  • 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
rs1204145 - 13,814,108(+) CGCGC(C/T)GCTGC reference, missense
rs3180196 - 13,801,383(-) AAATC(A/G)CTTTT reference, missense
rs1053033 -- 13,786,852(-) CACAT(C/G/T)TTACA utr-variant-3-prime
rs1060117 -- 13,787,695(-) CTCTA(G/T)GTGCA utr-variant-3-prime
rs1204301 -- 13,795,791(-) cctag(C/T)agcgt intron-variant

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

HapMap Linkage Disequilibrium report
MCUR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. 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. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for MCUR1 Gene

Sources for MCUR1 Gene

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