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MCCD1 Gene

protein-coding   GIFtS: 38
GCID: GC06P031496

Mitochondrial Coiled-Coil Domain 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial Coiled-Coil Domain 11 2
Mitochondrial Coiled-Coil Domain Protein 12

External Ids:    HGNC: 206681   Entrez Gene: 4012502   Ensembl: ENSG000002045117   OMIM: 6096245   UniProtKB: P599423   

Export aliases for MCCD1 gene to outside databases

Previous GC identifers: GC00U913796 GC06U900561 GC06P031605 GC06P031283


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MCCD1 Gene:
MCCD1 (mitochondrial coiled-coil domain 1) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167246.2  NT_167247.2  
NT_167248.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCCD1 gene promoter:
         Spz1   NF-1   NF-1/L   AML1a   RORalpha1   POU2F1   HOXA5   POU2F1a   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCCD1 promoter sequence
   Search Chromatin IP Primers for MCCD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCCD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

MCCD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCCD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031496:  view genomic region     (about GC identifiers)

Start:
31,496,494 bp from pter      End:
31,498,009 bp from pter
Size:
1,516 bases      Orientation:
plus strand

Selected alternative locations (see all 7):
Chr6+,NT_167244 2,811,427-2,812,696      Chr6+,NT_167249 2,827,544-2,828,813      Chr6+,NT_113891.2 3,006,401-3,007,670     
Chr6+,NT_167245 2,782,320-2,783,589      Chr6+,NT_167248 2,790,420-2,791,689      Chr6+,NT_167246 2,839,655-2,840,924     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MCCD1_HUMAN, P59942 (See protein sequence)
Recommended Name: Mitochondrial coiled-coil domain protein 1 precursor  
Size: 119 amino acids; 13259 Da
Secondary accessions: A2AB29 A2RUP7 B0UZB2 Q7RTY2

Explore the universe of human proteins at neXtProt for MCCD1: NX_P59942

Explore proteomics data for MCCD1 at MOPED


See MCCD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001011700.2  
ENSEMBL proteins: 
 ENSP00000365362  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: P59942


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for MCCD1:
 Increased cell number in S 

Animal Models:
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miRNA
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miRTarBase miRNAs that target MCCD1:
hsa-mir-92a-3p (MIRT049592)

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Selected qRT-PCR Assays for microRNAs that regulate MCCD1 (see all 15):
hsa-miR-302d hsa-miR-520e hsa-miR-302a hsa-miR-2909 hsa-miR-302e hsa-miR-373 hsa-miR-211 hsa-miR-520a-3p
SwitchGear 3'UTR luciferase reporter plasmidMCCD1 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MCCD1_HUMAN, P59942: Mitochondrion
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
extracellular3
cytosol1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--

Find genes that share ontologies with MCCD1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MCCD1
Interactions:

    Search GeneGlobe Interaction Network for MCCD1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MCCD1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for MCCD1 gene: 
NM_001011700.2  

Unigene Cluster for MCCD1:

Mitochondrial coiled-coil domain 1
Hs.558922  [show with all ESTs]
Unigene Representative Sequence: NM_001011700
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000376191(uc003ntp.1)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat MCCD1

Additional mRNA sequence: 

BC132994.1 BC132996.1 

2 DOTS entries:

DT.75169545  DT.100878254 

1 AceView cDNA sequence:

BN000141 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MCCD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAAGAGCAGA
MCCD1 Expression
About this image

MCCD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MCCD1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.558922

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

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCD1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of mammals.

Orthologs for MCCD1 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia MCCD11 mitochondrial coiled-coil domain 1 81.03(n)
75.86(a)
  607150  XM_843747.3  XP_848840.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MCCD1 gene

Find genes that share paralogs with MCCD1           About GenesLikeMe


3 Pseudogenes.org Pseudogenes for MCCD1
PGOHUM00000243129 PGOHUM00000243131 PGOHUM00000243133


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MCCD1 (see all 101)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1180547481,2
C,F--31494746(+) CATATG/AAGGCT 1 -- us2k11Minor allele frequency- A:0.01EA 120
rs1382703571,2
C--31494869(+) TTTGCC/TGCATG 1 -- us2k10--------
rs728472181,2
C--31494870(+) TTGCCG/ACATGG 1 -- us2k13Minor allele frequency- A:0.04NA WA 240
rs1880701501,2
--31494981(+) TTTCCA/GTTAAG 1 -- us2k10--------
rs1136587521,2
C--31495015(+) CTCATG/AGTGTC 1 -- us2k12Minor allele frequency- A:0.04NA EA 122
rs1913096101,2
--31495031(+) ACAATC/GACAAT 1 -- us2k10--------
rs1835056851,2
--31495101(+) AAACAC/TTTTGA 1 -- us2k10--------
rs1438040091,2
C--31495119(+) ACAGCA/GTGACA 1 -- us2k10--------
rs1442934651,2
C--31495145(+) TGCCTA/GCTGTT 1 -- us2k10--------
rs1878367771,2
--31495148(+) CTGCTG/TTTGGG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for MCCD1 (31496494 - 31498009 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for MCCD1 (see all 11):    About this table    
Variant IDTypeSubtypePubMed ID
dgv1042e201CNV Deletion23290073
nsv526235CNV Loss19592680
nsv830627CNV Loss17160897
nsv470809CNV Loss18288195
dgv213e55CNV Gain17911159
dgv6580n71CNV Gain21882294
nsv884416CNV Gain21882294
essv13266CNV CNV17122850
esv690CNV CNV17122850
dgv1921e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609624    OMIM disorders: --


Find genes that share disorders with MCCD1           About GenesLikeMe

Genetic Association Database (GAD): MCCD1
Human Genome Epidemiology (HuGE) Navigator: MCCD1 (4 documents)

Export disorders for MCCD1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for MCCD1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with MCCD1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A novel gene encoding a coiled-coil mitochondrial protein located at the telomeric end of the human MHC Class III region. (PubMed id 14527716)1, 2, 3 Semple J.I....Campbell R.D. (Gene 2003)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  3. Characterization of tumor necrosis factor-I+ block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients. (PubMed id 20854863)1, 4 Tan J.H....Wallace H.J. (Hum. Immunol. 2010)
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
  5. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). (PubMed id 19115949)1, 4 Limou S....Zagury J.F. (J. Infect. Dis. 2009)
  6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
  7. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with BehAset's disease. (PubMed id 20622878)4 Remmers E.F....GA1l A. (Nat. Genet. 2010)
  8. Risk alleles for multiple sclerosis identified by a genomewide study. (PubMed id 17660530)4  ....Hauser S.L. (N. Engl. J. Med. 2007)
  9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 401250 HGNC: 20668 AceView: LOC401250 Ensembl:ENSG00000204511 euGenes: HUgn401250
ECgene: MCCD1 H-InvDB: MCCD1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MCCD1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MCCD1 gene:
Search GeneIP for patents involving MCCD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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