Aliases for MCUR1 Gene

Aliases for MCUR1 Gene

  • Mitochondrial Calcium Uniporter Regulator 1 2 3 4 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
  • Epididymis Secretory Sperm Binding Protein 3
  • Chromosome 6 Open Reading Frame 79 2
  • FLJ20958 2
  • FMP32 3
  • MCUR1 5

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. Diseases associated with MCUR1 include Cataract 3, Multiple Types. Among its related pathways are Ca, cAMP and Lipid Signaling. An important paralog of this gene is CCDC90B.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCUR1 Gene

Genomics for MCUR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCUR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCUR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCUR1

Genomic Locations for MCUR1 Gene

Latest Assembly
chr6:13,786,549-13,814,994
(GRCh38/hg38)
Size:
28,446 bases
Orientation:
Minus strand

Previous Assembly
chr6:13,786,781-13,814,792
(GRCh37/hg19 by Entrez Gene)
Size:
28,012 bases
Orientation:
Minus strand

chr6:13,786,789-13,814,800
(GRCh37/hg19 by Ensembl)
Size:
28,012 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

Gene Families for MCUR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MCUR1 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1640

Suggested Antigen Peptide Sequences for MCUR1 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 90A, mitochondrial (CC90A_HUMAN)

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

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).

Phenotypes From GWAS Catalog for MCUR1 Gene

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

miRNA for MCUR1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCUR1

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
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MCUR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
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 IBA,IDA 23178883
genes like me logo Genes that share ontologies with MCUR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MCUR1 Gene

Pathways & Interactions for MCUR1 Gene

PathCards logo

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

Gene Ontology (GO) - Biological Process for MCUR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006851 mitochondrial calcium ion transmembrane transport IMP 23178883
GO:0036444 calcium import into the mitochondrion IMP 26445506
GO:0051561 positive regulation of mitochondrial calcium ion concentration IBA,IMP 23178883
genes like me logo Genes that share ontologies with MCUR1: view

No data available for SIGNOR curated interactions for MCUR1 Gene

Drugs & Compounds for MCUR1 Gene

No Compound Related Data Available

Transcripts for MCUR1 Gene

mRNA/cDNA for MCUR1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCUR1

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

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, MaxQB, and MOPED for MCUR1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for MCUR1 Gene

  • Lung(4.3)
  • Heart(2.7)
  • Kidney(2.5)
  • Liver(2.5)
  • Nervous system(2.5)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with MCUR1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29
  • 99.44 (n)
MCUR1 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MCUR1 29 30
  • 91.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MCUR1 30
  • 89 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC90A 29 30
  • 82.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcur1 29
  • 77.51 (n)
Mouse
(Mus musculus)
Mammalia Mcur1 29 16 30
  • 77.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCUR1 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC90A 29
  • 68.35 (n)
MCUR1 30
  • 61 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCUR1 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcur1 29
  • 65.71 (n)
Str.19448 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.19315 29
Zebrafish
(Danio rerio)
Actinopterygii MCUR1 30
  • 56 (a)
OneToOne
wufb37a05 29
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP32 32
Species where no ortholog for MCUR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MCUR1: view image
Alliance of Genome Resources:
Additional Orthologs for MCUR1

Paralogs for MCUR1 Gene

Paralogs for MCUR1 Gene

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

  • MCUR1_HUMAN
  • U3KQP8_HUMAN

Pseudogenes.org Pseudogenes for MCUR1 Gene

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

Variants for MCUR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCUR1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs61659142 Benign: not provided 13,806,962(-) G/A
NM_001031713.3(MCUR1):c.498C>T (p.Phe166=)
SYNONYMOUS
rs1204145 -- p.Ser108Gly
rs3180196 -- p.Thr216Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCUR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for MCUR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCUR1
Leiden Open Variation Database (LOVD)
MCUR1

SNP Genotyping and Copy Number Assays for research

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

Disorders for MCUR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MCUR1 Gene - From: COP

Disorder Aliases PubMed IDs
cataract 3, multiple types
  • ctrct3
- elite association - COSMIC cancer census association via MalaCards
Search MCUR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MCUR1

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

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

Publications for MCUR1 Gene

  1. MCUR1 is an essential component of mitochondrial Ca2+ uptake that regulates cellular metabolism. (PMID: 23178883) Mallilankaraman K … Madesh M (Nature cell biology 2012) 2 3 4
  2. MCUR1 Is a Scaffold Factor for the MCU Complex Function and Promotes Mitochondrial Bioenergetics. (PMID: 27184846) Tomar D … Madesh M (Cell reports 2016) 3 4
  3. Mitochondrial calcium uniporter regulator 1 (MCUR1) regulates the calcium threshold for the mitochondrial permeability transition. (PMID: 26976564) Chaudhuri D … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4
  4. CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. (PMID: 25565209) Paupe V … Shoubridge EA (Cell metabolism 2015) 3 4
  5. MCUR1, CCDC90A, Is a Regulator of the Mitochondrial Calcium Uniporter. (PMID: 26445506) Vais H … Foskett JK (Cell metabolism 2015) 3 4

Products for MCUR1 Gene

Sources for MCUR1 Gene