ADCK3 Gene
protein-coding GIFtS : 54
GCID: GC01 P227087
aarF domain containing kinase 3 (Previous names: chaperone-ABC1 (activity of bc1 complex, S.pombe)-like,... ) (Previous symbol: CABC1 )
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor ADCK3 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 AarF Domain Containing Kinase 3 1 2 Chaperone-ABC1 (Activity Of Bc1 Complex, S.Pombe)-Like1 CABC11 2 3 5 COQ10D42 COQ81 2 5 Chaperone Activity Of Bc1 Complex-Like, Mitochondrial2 SCAR91 2 5 Chaperone, ABC1 Activity Of Bc1 Complex Homolog2 AarF Domain-Containing Protein Kinase 32 3 Coenzyme Q8 Homolog2 ARCA22 5 Chaperone-ABC1-Like1 Chaperone, ABC1 Activity Of Bc1 Complex Homolog (S. Pombe)1 EC 2.7.11.-3 Chaperone, ABC1 Activity Of Bc1 Complex Like (S. Pombe)1 EC 2.7.118
Export aliases for ADCK3 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor ADCK3 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ADCK3 : This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60 Function : May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes inthe respiratory chain Gene Wiki entry for ADCK3 (CABC1)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor ADCK3 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_000001.10 NC_018912.1 NT_167186.1 Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for ADCK3 Other transcription factors Search SABiosciences Chromatin IP Primers for ADCK3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ADCK3
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1q42.13 Ensembl cytogenetic band: 1q42.13 HGNC cytogenetic band: 1q42.11 ADCK3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P227087: view genomic region
(about GC identifiers )
Start:
227,085,237 bp from pter
End:
227,175,246 bp from pter
Size:
90,010 bases
Orientation:
plus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor ADCK3 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: ADCK3_HUMAN, Q8NI60 (See
protein sequence )Recommended Name: Chaperone activity of bc1 complex-like, mitochondrial precursor Size : 647 amino acids; 71950 Da
Subcellular location : Mitochondrion
Caution : It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thror Tyr)
Secondary accessions : Q5T7A5 Q63HK0 Q8NCJ6 Q9HBQ1 Q9NQ67Alternative splicing : 4 isoforms : Q8NI60-1 Q8NI60-2 Q8NI60-3 Q8NI60-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ADCK3: NX_Q8NI60 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8NI60 2 DME Specific Peptides for ADCK3 (Q8NI60 ) ADCK3 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_064632.2 ENSEMBL proteins: ENSP00000355741 ENSP00000355740 ENSP00000355739 ENSP00000355738 ENSP00000355737 ENSP00000403704 ENSP00000404550 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 --
ADCK3 for ontologies About GeneDecksing ADCK3 Antibody Products: Assay Products for ADCK3:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor ADCK3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ADCK3 for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q8NI60 ProtoNet protein and cluster: Q8NI60
1 Blocks protein family : IPB004147 ABC1 protein UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60 Similarity : Belongs to the protein kinase superfamily. ADCK protein kinase familySimilarity : Contains 1 protein kinase domain
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor ADCK3 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: ADCK3_HUMAN, Q8NI60 Function : May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes inthe respiratory chain Induction : By p53/TP53Enzyme Numbers (IUBMB): EC 2.7.11 2 EC 2.7.11.- 1
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 ADCK3 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ADCK3 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ADCK3 (NM_020247 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ADCK3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ADCK3
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK3
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004674 protein serine/threonine kinase activity
IEA -- GO:0005524 ATP binding
IEA -- GO:0016772 transferase activity, transferring phosphorus-containing groups
-- --
ADCK3 for ontologies About GeneDecksing 4 GenomeRNAi human phenotypes for ADCK3 :
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor ADCK3 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 ADCK3 STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)5/258 Interacting proteins for ADCK3 (Q8NI60 2 , 3 ENSP00000355739 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 258 )About this table Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0008219 cell death
IEA --
ADCK3 for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor ADCK3 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 ADCK3 Search CenterWatch for drugs/clinical trials and news about ADCK3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor ADCK3 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 ADCK3 gene: NM_020247.4 Unigene Cluster for ADCK3:
AarF domain containing kinase 3 Hs.118241 [show with all ESTs ] Unigene Representative Sequence: NM_020247 15 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000366779 (uc001hql.1 uc001hqm.1 ) ENST00000485677 ENST00000366778 (uc009xeq.1 uc010pvq.1 )ENST00000366777 (uc010pvp.1 uc001hqn.1 ) ENST00000366776 (uc010pvr.1 )ENST00000478406 (uc009xer.1 ) ENST00000366775 ENST00000489044 ENST00000476488 ENST00000485462 (uc001hqo.1 ) ENST00000479852 ENST00000490782 ENST00000464693 ENST00000458507 ENST00000433743 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ADCK3 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ADCK3 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ADCK3 (NM_020247 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ADCK3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ADCK3
Additional cDNA sequence: AB073905.1 AJ278126.1 AK074693.1 AK293571.1 AK297735.1 AK300537.1 AK301012.1 AL137511.1 BC005171.2 BC129930.1 BX648860.1
19 DOTS entries : DT.100766408 DT.95292336
DT.95292328 DT.97810231 DT.101983834 DT.100777220 DT.95252234 DT.455359 DT.97822143 DT.92049843 DT.97788388 DT.121427887 DT.91850211 DT.95292312 DT.100731394 DT.121427792 DT.121427917 DT.121427929 DT.121427788 24/273 AceView cDNA sequences (see all 273 ):
AW297775 AI364741 CA866033 AI953387 AL602556 BE393760 CA941010 CD672367 BM456221 BF724826 AI819411 AW006971 AW779751 AW271480 BF111518 CK821992 BM854910 AI278766 AA995563 BF195533 BM313377 AW964156 BF724827 AI916578 GeneLoc Exon Structure 5/14 Alternative Splicing Database (ASD) splice patterns (SP) for ADCK3 (see all 14 ) About this scheme ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ SP1 :         -   -   -   -                 -   -       -   -             SP2 :         -   -   -   -     -   -   -         -   -       -   -             SP3 :                                       -   -             SP4 :         -   -   -   -   -   -   -   -   -   -   -   -   -                     SP5 :         -   -   -   -   -   -   -   -   -   -   -   -   -       -   -            
ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 SP1 :           SP2 :           SP3 :           SP4 :           SP5 :          
ECgene alternative splicing isoforms for ADCK3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for ADCK3 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 ADCK3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGAAGTGAAA
About this image ADCK3 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See ADCK3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ADCK3 SOURCE GeneReport for Unigene cluster: Hs.118241 UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60 Tissue specificity : Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle SABiosciences Expression via Pathway-Focused PCR Array including ADCK3 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ADCK3Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ADCK3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ADCK3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ADCK3 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor ADCK3 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 last universal common ancestor (LUCA).
Orthologs for ADCK3 gene from 9/32 species (see all 32 ) About this table
ENSEMBL Gene Tree for ADCK3 (if available)TreeFam Gene Tree for ADCK3 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor ADCK3 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ADCK3 gene ADCK4 2 2 SIMAP similar genes for ADCK3 using alignment to 4 protein entries: ADCK3_HUMAN (see all proteins ):CABC1 ADCK4
ADCK3 for paralogs About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor ADCK3 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 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ADCK3 (227085237 - 227175246 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ADCK3: -- Human Gene Mutation Database (HGMD) : ADCK3 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ADCK3
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor ADCK3 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
ADCK3 for disorders About GeneDecksing OMIM gene information: 606980 OMIM disorders : 607426 612016 UniProtKB/Swiss-Prot: ADCK3_HUMAN, Q8NI60
Defects in ADCK3 are the cause of coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016]. An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures 11 diseases for ADCK3 : About MalaCards spinocerebellar ataxia, autosomal recessive, 9 spinocerebellar ataxia cerebellar ataxia ataxia encephalomyopathy seizures pharyngitis tuberculosis malaria neuronitis mycobacterium tuberculosis Export disorders for ADCK3 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor ADCK3 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 ADCK3 gene, integrated from 9 sources (see all 21 ): (articles sorted by number of sources associating them with ADCK3) Utopia : connect your pdf to the dynamic world of online information
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. (PubMed id 18319074) 1 , 2 , 9 Lagier-Tourenne C....Koenig M. (2008) Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex. (PubMed id 11888884) 1 , 2 , 9 Iiizumi M.... Nakamura Y. (2002) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (PubMed id 18319072) 1 , 2 , 9 Mollet J.... Roetig A. (2008) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 1 , 2 Gregory S.G.... Bentley D.R. (2006) Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874) 1 , 2 Wan D....Gu J. (2004) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Adult-onset cerebellar ataxia due to mutations in CABC 1/ADCK3. (PubMed id 22036850) 1 Horvath R....Chinnery P.F. (2012) Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422) 1 Li S....Dorf M.E. (2011) Initial characterization of the human central proteome. (PubMed id 21269460) 2 Burkard T.R.... Colinge J. (2011)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for ADCK3 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing ADCK3 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing ADCK3 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing ADCK3 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 ADCK3 Pharmacogenomics, SNPs, Pathways
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for ADCK3 gene: Search GeneIP for patents involving ADCK3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor ADCK3 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 ADCK3 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ADCK3 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ADCK3 OriGene Protein Over-expression Lysate for ADCK3 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ADCK3 OriGene 3'-UTR Clone for ADCK3 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ADCK3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ADCK3 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 Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ADCK3 OriGene Custom Protein Services for ADCK3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ADCK3 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ADCK3 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ADCK3 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ADCK3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ADCK3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ADCK3
Search Tocris compounds for ADCK3
ADCK3 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK3
ThermoFisher Antibodies for ADCK3
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ADCK3
Jump to Section...
Aliases for ADCK3
Databases for ADCK3
Disorders / Diseases for ADCK3
Domains / Families for ADCK3
Drugs / Compounds for ADCK3
Expression for ADCK3
Function for ADCK3
Genomic Views for ADCK3
Intellectual Property for ADCK3
Orthologs for ADCK3
Paralogs for ADCK3
Pathways / Interactions for ADCK3
Products for ADCK3
Proteins for ADCK3
Publications for ADCK3
Search Box for ADCK3
Summaries for ADCK3
Transcripts for ADCK3
Variants for ADCK3
TOP
BOTTOM