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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCCD1 Gene

protein-coding   GIFtS: 37
GCID: GC06P031496

Mitochondrial Coiled-Coil Domain 1

  See related diseases
at  

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MCCD1 Gene: 
MCCD1 (mitochondrial coiled-coil domain 1) is a protein-coding gene. Diseases associated with MCCD1 include chronic venous leg ulcers, and systemic lupus erythematosus.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  
NT_167248.1  NT_167249.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MCCD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

6/7 alternative locations (see all 7):
Chr6+,NT_167247 2,876,490-2,877,759      Chr6+,NT_167249 2,827,544-2,828,813      Chr6+,NT_167244 2,811,427-2,812,696     
Chr6+,NT_167248 2,790,420-2,791,689      Chr6+,NT_167245 2,782,320-2,783,589      Chr6+,NT_113891.2 3,006,401-3,007,670     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MCCD1_HUMAN, P59942 (See protein sequence)
Recommended Name: Mitochondrial coiled-coil domain protein 1 precursor  
Size: 119 amino acids; 13259 Da
Subcellular location: Mitochondrion
Secondary accessions: A2AB29 B0UZB2 Q7RTY2

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

Explore proteomics data for MCCD1 at MOPED 

MCCD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MCCD1 Protein Expression

REFSEQ proteins: NP_001011700.2  
ENSEMBL proteins: 
 ENSP00000365362  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

MCCD1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
     1 GenomeRNAi human phenotype for MCCD1:
 Increased cell number in S 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for MCCD1 
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCCD1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MCCD1

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)
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Inhib. RNA
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  QIAGEN 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See MCCD1 Protein Expression from SPIRE MOPED and PaxDB
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)
About This Section

This gene was present in the common ancestor of mammals.

Orthologs for MCCD1 gene from 1/4 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 83.92(n)
81.58(a)
  607150  XM_843747.2  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)
About This Section
Paralogs for MCCD1 gene

MCCD1 for paralogs           About GeneDecksing


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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/101 SNPs in MCCD1 are shown (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) 10/11 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 609624    OMIM disorders: --

3 diseases for MCCD1:    About MalaCards
chronic venous leg ulcers    systemic lupus erythematosus    lupus erythematosus


MCCD1 for disorders           About GeneDecksing

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)
About This Section

PubMed articles for MCCD1 gene integrated from 9 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. (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. (2010)
  3. Characterization of tumor necrosis factor-I+ block hap lotypes associated with susceptibility to chronic venous leg ulcers in Caucasia n patients. (PubMed id 20854863)1, 4 Tan J.H....Wallace H.J. (2010)
  4. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (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. (2009)
  6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  7. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with BehAset's disea se. (PubMed id 20622878)4 Remmers E.F....GA1l A. (2010)
  8. Risk alleles for multiple sclerosis identified by a genomewide study. (PubMed id 17660530)4  ....Hauser S.L. (2007)
  9. 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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 401250 HGNC: 20668 AceView: LOC401250 Ensembl:ENSG00000204511 euGenes: HUgn401250
ECgene: MCCD1 H-InvDB: MCCD1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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 inGenious Targeting Laboratory - Custom generated mouse model solutions for MCCD1
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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