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Aliases for MCCD1 Gene

Aliases for MCCD1 Gene

  • Mitochondrial Coiled-Coil Domain 1 2 3 5

External Ids for MCCD1 Gene

Previous GeneCards Identifiers for MCCD1 Gene

  • GC00U913796
  • GC06U900561
  • GC06P031605
  • GC06P031496
  • GC06P031283

Summaries for MCCD1 Gene

GeneCards Summary for MCCD1 Gene

MCCD1 (Mitochondrial Coiled-Coil Domain 1) is a Protein Coding gene.

Additional gene information for MCCD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCCD1 Gene

Genomics for MCCD1 Gene

Regulatory Elements for MCCD1 Gene

Enhancers for MCCD1 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
GH06H031567 2 FANTOM5 Ensembl ENCODE dbSUPER 11 +49.7 49702 22 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B TNF DDX39B LY6G5B ATF6B LSM2 TCF19 MDC1 DHX16 NFKBIL1 C6orf47
GH06H031493 1.1 ENCODE 12.4 -32.8 -32767 5 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 FOS MICB DDX39B ATF6B ATP6V1G2 LSM2 PPP1R10 C4B RPL3P2 SNORD117 PPIAP9
GH06H031491 1.1 Ensembl ENCODE 12.4 -36.5 -36517 0 HDAC1 PKNOX1 RB1 ARNT ZNF2 RAD21 RFX5 ZNF143 KLF7 ATF7 MICB ATP6V1G2 SNORD117 DDX39B PPIAP9 ENSG00000225499 MCCD1 GC06M031422
GH06H031441 1.1 Ensembl ENCODE 11.3 -86.9 -86913 0 CTCF IRF2 RB1 SAP130 ARID4B ZNF2 KMT2B RAD21 RFX5 CC2D1A MICA-AS1 MICB PPIAP9 MCCD1 ENSG00000225499 SNORD117 DDX39B ENSG00000271581 STK19B ENSG00000199332
GH06H031474 0.7 ENCODE 11.8 -54.0 -54037 0 CTCF SMARCC1 NRF1 MAFG CEBPB MNT EP300 SMARCB1 ZNF316 JUND C4A PPIAP9 MCCD1 ENSG00000225499 SNORD117 DDX39B HLA-C MICA POU5F1 MICB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCCD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCCD1 Gene

Chromosome:
6
Start:
31,528,717 bp from pter
End:
31,530,232 bp from pter
Size:
1,516 bases
Orientation:
Plus strand

Genomic View for MCCD1 Gene

Genes around MCCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for MCCD1 Gene

  • Protein details for MCCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59942-MCCD1_HUMAN
    Recommended name:
    Mitochondrial coiled-coil domain protein 1
    Protein Accession:
    P59942
    Secondary Accessions:
    • A2AB29
    • A2RUP7
    • B0UZB2
    • Q7RTY2

    Protein attributes for MCCD1 Gene

    Size:
    119 amino acids
    Molecular mass:
    13259 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MCCD1 Gene

Post-translational modifications for MCCD1 Gene

No Post-translational modifications

Other Protein References for MCCD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MCCD1 Gene

Domains & Families for MCCD1 Gene

Gene Families for MCCD1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MCCD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCCD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MCCD1: view

No data available for UniProtKB/Swiss-Prot for MCCD1 Gene

Function for MCCD1 Gene

Phenotypes From GWAS Catalog for MCCD1 Gene

genes like me logo Genes that share phenotypes with MCCD1: view

Animal Model Products

CRISPR Products

miRNA for MCCD1 Gene

miRTarBase miRNAs that target MCCD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MCCD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MCCD1 Gene

Localization for MCCD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCCD1 Gene

Mitochondrion.

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 MCCD1 gene
Compartment Confidence
mitochondrion 4
extracellular 3
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MCCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with MCCD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MCCD1 Gene

Pathways & Interactions for MCCD1 Gene

SuperPathways for MCCD1 Gene

No Data Available

Interacting Proteins for MCCD1 Gene

Gene Ontology (GO) - Biological Process for MCCD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MCCD1 Gene

Drugs & Compounds for MCCD1 Gene

No Compound Related Data Available

Transcripts for MCCD1 Gene

mRNA/cDNA for MCCD1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MCCD1 Gene

Mitochondrial coiled-coil domain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MCCD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MCCD1 Gene

No ASD Table

Relevant External Links for MCCD1 Gene

GeneLoc Exon Structure for
MCCD1
ECgene alternative splicing isoforms for
MCCD1

Expression for MCCD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCCD1 Gene

mRNA differential expression in normal tissues according to GTEx for MCCD1 Gene

This gene is overexpressed in Kidney - Cortex (x52.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MCCD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MCCD1 Gene:

MCCD1

SOURCE GeneReport for Unigene cluster for MCCD1 Gene:

Hs.558922

mRNA Expression by UniProt/SwissProt for MCCD1 Gene:

P59942-MCCD1_HUMAN
Tissue specificity: Widely expressed. Expressed in adult and fetal liver, kidney and lung. Expressed in fetal brain. Weakly expressed in fetal spleen.

Evidence on tissue expression from TISSUES for MCCD1 Gene

  • Kidney(4.1)
genes like me logo Genes that share expression patterns with MCCD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCCD1 Gene

Orthologs for MCCD1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for MCCD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCCD1 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia MCCD1 33 34
  • 81.03 (n)
cow
(Bos Taurus)
Mammalia MCCD1 33 34
  • 77.06 (n)
oppossum
(Monodelphis domestica)
Mammalia MCCD1 34
  • 71 (a)
OneToOne
Species where no ortholog for MCCD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MCCD1 Gene

ENSEMBL:
Gene Tree for MCCD1 (if available)
TreeFam:
Gene Tree for MCCD1 (if available)

Paralogs for MCCD1 Gene

No data available for Paralogs for MCCD1 Gene

Variants for MCCD1 Gene

Sequence variations from dbSNP and Humsavar for MCCD1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000639768 -- 31,530,616(+) CCACA(A/T)AAAGG intron-variant, downstream-variant-500B
rs1000684336 -- 31,530,463(+) GAAAA(C/T)GTAGC intron-variant, downstream-variant-500B
rs1002923958 -- 31,528,281(+) GGTTA(C/T)GTTAC upstream-variant-2KB
rs1003095539 -- 31,530,211(+) AGGGA(C/T)GAAGC downstream-variant-500B, utr-variant-3-prime
rs1003403370 -- 31,529,226(+) GAATT(C/T)ACACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCCD1 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv213e55 CNV gain 17911159
dgv995e201 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
nsv1021578 CNV gain 25217958
nsv1025961 CNV loss 25217958
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv470809 CNV loss 18288195
nsv526235 CNV loss 19592680
nsv830627 CNV loss 17160897

Variation tolerance for MCCD1 Gene

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCCD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCCD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCCD1 Gene

Disorders for MCCD1 Gene

Relevant External Links for MCCD1

Genetic Association Database (GAD)
MCCD1
Human Genome Epidemiology (HuGE) Navigator
MCCD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCCD1

No disorders were found for MCCD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCCD1 Gene

Publications for MCCD1 Gene

  1. A novel gene encoding a coiled-coil mitochondrial protein located at the telomeric end of the human MHC Class III region. (PMID: 14527716) Semple JI … Campbell RD (Gene 2003) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Characterization of tumor necrosis factor-α block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients. (PMID: 20854863) Tan JH … Wallace HJ (Human immunology 2010) 3 45 60
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 45 60
  5. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). (PMID: 19115949) Limou S … ANRS Genomic Group (The Journal of infectious diseases 2009) 3 45 60

Products for MCCD1 Gene

Sources for MCCD1 Gene

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