MCCD1 Gene
protein-coding GIFtS: 37
GCID: GC06P031496
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mitochondrial coiled-coil domain 1
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Aliases
for MCCD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrial Coiled-Coil Domain 11 2 | | Mitochondrial Coiled-Coil Domain Protein 12 |
Export aliases for MCCD1 gene to outside databasesPrevious GC identifers: GC00U913796 GC06U900561 GC06P031605 GC06P031283 |
Summaries
for MCCD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for MCCD1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 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
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: 6p21.3MCCD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P031496: view genomic region
(about GC identifiers)
Start:
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31,496,494 bp from pter |
End:
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31,498,009 bp from pter |
Size:
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1,516 bases |
Orientation:
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plus strand |
6/7 alternative locations (see all 7):
| Chr6+,ALT_REF_LOCI_2 31,483,952-31,524,654 | Chr6+,ALT_REF_LOCI_6 31,486,778-31,523,873 | Chr6+,ALT_REF_LOCI_5 31,487,913-31,489,182 | | Chr6+,ALT_REF_LOCI_3 31,478,678-31,491,230 | Chr6+,ALT_REF_LOCI_1 31,507,785-31,517,599 | Chr6+,ALT_REF_LOCI_4 31,459,314-31,460,583 | |
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Proteins
for MCCD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q7RTY2Explore the universe of human proteins at neXtProt for MCCD1: NX_P59942
MCCD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001011700.2
ENSEMBL proteins: ENSP00000365362
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- |
MCCD1 for ontologies About GeneDecksing
MCCD1 Antibody Products:
Assay Products for MCCD1: |
Protein
Domains /
Families
for MCCD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: P59942 |
Function
for MCCD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCCD1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCCD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MCCD1 (NM_001011700) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCCD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCD1 |
1 GenomeRNAi human phenotype for MCCD1:
|
Pathways & Interactions
for MCCD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCCD1
|
Drugs & Compounds
for MCCD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MCCD1
Search CenterWatch for drugs/clinical trials and news about MCCD1
|
Transcripts
for MCCD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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_0010117001 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000376191(uc003ntp.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCCD1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCCD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MCCD1 (NM_001011700) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCCD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCD1 |
Additional cDNA sequence: BC132994.1 BC132996.1 2 DOTS entries: DT.75169545 DT.100878254 1 AceView cDNA sequence: BN000141
GeneLoc Exon Structure
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Expression
for MCCD1 gene
(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
CGAP TAG: GAAGAGCAGA
About this image
See MCCD1 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.558922
UniProtKB/Swiss-Prot: MCCD1_HUMAN, P59942Tissue specificity: Widely expressed. Expressed in adult and fetal liver, kidney and lung. Expressed in fetal brain.Weakly expressed in fetal spleen
SABiosciences Custom PCR Arrays for MCCD1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCCD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat MCCD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCCD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCCD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCD1 |
Orthologs
for MCCD1 gene
(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
|
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ENSEMBL Gene Tree for MCCD1 (if available)
TreeFam Gene Tree for MCCD1 (if available) |
Paralogs
for MCCD1 gene(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
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Genomic Variants
for MCCD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MCCD1 (31496494 - 31498009 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MCCD1
3 CNVs: 2625 3601 8510 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCCD1 |
|
Disorders
/ Diseases
for MCCD1 gene
(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.)
About This Section
|
MCCD1 for disorders About GeneDecksing
OMIM gene information: 609624
OMIM disorders: --
3  diseases for MCCD1: About MalaCardschronic venous leg ulcers systemic lupus erythematosus lupus erythematosus
Human Genome Epidemiology (HuGE) Navigator: MCCD1 (4 documents)
Export disorders for MCCD1 gene to outside databases
|
Publications
for MCCD1 gene (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 |
- 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)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- 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 Tan J.H....Wallace H.J. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- 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 Barcellos L.F....Criswell L.A. (2009)
- Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). (PubMed id 19115949)1 Limou S....Zagury J.F. (2009)
- 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)
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External Searches for MCCD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing MCCD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MCCD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MCCD1 gene(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
|
| Name | Description |
| PharmGKB entry for MCCD1 | Pharmacogenomics, SNPs, Pathways |
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| | |
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
|
Products
for MCCD1 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
About This Section
|
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 | |
 |
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 | | | MCCD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCD1 |
|  |  |  | | | | Search ThermoFisher Antibodies for MCCD1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCD1 |
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