CHCHD6 Gene
protein-coding GIFtS : 45
GCID: GC03 P126423
coiled-coil-helix-coiled-coil-helix domain containing 6
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Aliasesfor CHCHD6 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 6 1 2 Coiled Coil Helix Cristae Morphology 12 CHCM11 2 3 Coiled-Coil-Helix Cristae Morphology 12 PPP1R231 2 Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 6, Mitochondrial2 Coiled Coil Helix Cristae Morphology Protein 12 3 Protein Phosphatase 1, Regulatory Subunit 232 MGC130161
Export aliases for CHCHD6 gene to outside databases Previous GC identifers: GC03P127744 GC03P127905 GC03P123803
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Summariesfor CHCHD6 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6 Function : Required for maintaining mitochondrial crista morphology, ATP production and oxygen consumption
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Genomic Viewsfor CHCHD6 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_000003.11 NC_018914.1 NT_005612.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CHCHD6 gene promoter: Oct-B1 Nkx3-1 Nkx3-1 v4 oct-B3 oct-B2 Nkx3-1 v1 Nkx3-1 v2 POU2F1 POU2F1a Nkx3-1 v3 Other transcription factors Search SABiosciences Chromatin IP Primers for CHCHD6 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CHCHD6
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21.3 CHCHD6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P126423: view genomic region
(about GC identifiers )
Start:
126,423,063 bp from pter
End:
126,679,249 bp from pter
Size:
256,187 bases
Orientation:
plus strand
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Proteinsfor CHCHD6 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: CHCH6_HUMAN, Q9BRQ6 (See
protein sequence )Recommended Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial Size : 235 amino acids; 26458 Da
Subunit : Interacts with CHCHD3 and DISC1. Interacts with IMMT; the interaction is direct
Subcellular location : Mitochondrion inner membrane; Lipid-anchor (Probable)
Secondary accessions : D6R9U0 D6RIB4 H8Y0Y7Explore the universe of human proteins at neXtProt for CHCHD6: NX_Q9BRQ6 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9BRQ6 CHCHD6 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_115719.1 ENSEMBL proteins: ENSP00000290913 ENSP00000427517 ENSP00000422912 ENSP00000422787 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005739 mitochondrion
IMP -- GO:0005743 mitochondrial inner membrane
IDA --
CHCHD6 for ontologies About GeneDecksing CHCHD6 Antibody Products: Assay Products for CHCHD6:
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Protein
Domains / Familiesfor CHCHD6 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CHCHD6 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q9BRQ6 ProtoNet protein and cluster: Q9BRQ6
1 Blocks protein family : IPB010625 CHCH UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6 Similarity : Belongs to the CHCHD6 familySimilarity : Contains 1 CHCH domain
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Functionfor CHCHD6 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 Function Summary: UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6 Function : Required for maintaining mitochondrial crista morphology, ATP production and oxygen consumptionInduction : Down-regulated following genotoxic stress
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 CHCHD6 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD6OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CHCHD6 (NM_032343 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHCHD6 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CHCHD6
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
IPI --
CHCHD6 for ontologies About GeneDecksing
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Pathways & Interactionsfor CHCHD6 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 CHCHD6 STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)5/8 Interacting proteins for CHCHD6 (Q9BRQ6 2 , 3 ENSP00000290913 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 8 )About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006974 response to DNA damage stimulus
IDA -- GO:0042407 cristae formation
IMP --
CHCHD6 for ontologies About GeneDecksing
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Drugs & Compoundsfor CHCHD6 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 CHCHD6 Search CenterWatch for drugs/clinical trials and news about CHCHD6 / CHCH6
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Transcriptsfor CHCHD6 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 CHCHD6 gene: NM_032343.2 Unigene Cluster for CHCHD6:
Coiled-coil-helix-coiled-coil-helix domain containing 6 Hs.518119 [show with all ESTs ] Unigene Representative Sequence: BU146817 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000290913 (uc003ejf.1 ) ENST00000503119 ENST00000508789 (uc010hsj.1 )ENST00000514908 ENST00000513253 ENST00000515867 ENST00000504973 ENST00000510044 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD6 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD6OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CHCHD6 (NM_032343 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHCHD6 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CHCHD6
Additional cDNA sequence: AK310910.1 AK311056.1 BC006123.1 JF264889.1
10 DOTS entries : DT.440950 DT.113352
DT.97859860 DT.120885873 DT.100730127 DT.120885891 DT.95277804 DT.91752016 DT.95344432 DT.97771851 24/178 AceView cDNA sequences (see all 178 ):
CD676241 BM713328 BM758187 AL522151 AI092411 BE265275 BQ185922 CF126500 AA688216 BM684502 NM_032343 AW628914 BM727213 BU740774 BC006123 AI890974 AI241133 BM674675 CD672888 BG205002 BM681429 BM931016 BM462603 BQ214808 GeneLoc Exon Structure
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Expression for CHCHD6 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 CHCHD6 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGACCACAGC
About this image CHCHD6 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Heart Endocardium Endocardial Tube Cells Endocardium Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See CHCHD6 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CHCHD6 SOURCE GeneReport for Unigene cluster: Hs.518119 SABiosciences Custom PCR Arrays for CHCHD6 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CHCHD6Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CHCHD6 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CHCHD6 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CHCHD6
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Orthologsfor CHCHD6 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for CHCHD6 gene from 5/15 species (see all 15 ) About this table
ENSEMBL Gene Tree for CHCHD6 (if available)TreeFam Gene Tree for CHCHD6 (if available)
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Paralogsfor CHCHD6 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CHCHD6 gene CHCHD3 2 1 SIMAP similar gene for CHCHD6 using alignment to 4 protein entries: CHCH6_HUMAN (see all proteins ):CHCHD3
CHCHD6 for paralogs About GeneDecksing
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Genomic Variantsfor CHCHD6 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CHCHD6 (126423063 - 126673063 bp, first 250kb of CHCHD6)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 6 variations for CHCHD6 3 CNVs : 23662 68452 98439 3 Indels : 12332 41563 11208
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CHCHD6
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Disorders
/ Diseasesfor CHCHD6 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 CHCHD6 for disorders About MalaCards
CHCHD6 for disorders About GeneDecksing Human Genome Epidemiology (HuGE) Navigator: CHCHD6 (2 documents) Export disorders for CHCHD6 gene to outside databases
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Publicationsfor CHCHD6 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for CHCHD6 gene, integrated from 9 sources (see all 14 ): (articles sorted by number of sources associating them with CHCHD6) Utopia : connect your pdf to the dynamic world of online information
CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. (PubMed id 22228767) 1 , 2 , 3 An J.... Sheikh M.S. (2012) The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11. (PubMed id 17624330) 1 , 2 , 3 Xie J....Capaldi R.A. (2007) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) A census of human soluble protein complexes. (PubMed id 22939629) 1 Havugimana P.C....Emili A. (2012) Initial characterization of the human central proteome. (PubMed id 21269460) 2 Burkard T.R.... Colinge J. (2011) Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049) 1 OlA!h J....OvA!di J. (2011) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068) 1 Hutchins J.R....Peters J.M. (2010) Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061) 1 Trynka G....Wijmenga C. (2009) Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623) 1 Hendrickx A.... Bollen M. (2009)
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External Searches for CHCHD6 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CHCHD6 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing CHCHD6 gene
(According to HUGE )
About This Section --
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Specialized Databases showing CHCHD6 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 CHCHD6 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for CHCHD6 gene: Search GeneIP for patents involving CHCHD6 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CHCHD6 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
Browse OriGene Antibodies OriGene shRNA RFP for CHCHD6 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CHCHD6 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CHCHD6 OriGene Protein Over-expression Lysate for CHCHD6 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CHCHD6 OriGene 3'-UTR Clone for CHCHD6 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD6 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD6 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for CHCHD6 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CHCHD6 OriGene Custom Protein Services for CHCHD6 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHCHD6 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CHCHD6 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CHCHD6 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CHCHD6 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CHCHD6 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CHCHD6
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CHCHD6 Proteins, Antibodies, CLIAs, and ELISAs
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CHCHD6
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