NDUFA6 Gene
protein-coding GIFtS: 56
GCID: GC22M042481
|
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD,...)
| |
Aliases
for NDUFA6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 6, 14kDa1 2 | | LYR Motif-Containing Protein 62 3 | | CI-B141 2 3 | | NADH-Ubiquinone Oxidoreductase B14 Subunit2 3 | | LYRM61 2 3 | | NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 6 (14kD, B14)1 | | NADHB141 2 3 | | Complex I B14 Subunit2 | | B141 2 | | NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 62 | | Complex I-B142 3 | | NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, 62 |
Export aliases for NDUFA6 gene to outside databasesPrevious GC identifers: GC22M039096 GC22M040724 GC22M040806 GC22M040811 GC22M025447 |
Summaries
for NDUFA6 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: NDUA6_HUMAN, P56556Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that isbelieved to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to therespiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
Gene Wiki entry for NDUFA6
|
Genomic Views
for NDUFA6 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_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NDUFA6 gene promoter:
GR FOXD3 POU6F1 (c2) HNF-4alpha2 Evi-1 HNF-4alpha1 GATA-1 AREB6 Cart-1 GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for NDUFA6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFA6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q13.2 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.2NDUFA6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M042481: view genomic region
(about GC identifiers)
Start:
|
42,481,529 bp from pter |
End:
|
42,486,959 bp from pter |
Size:
|
5,431 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr22-,PATCHES 42,487,579-42,492,937 |
|
Proteins
for NDUFA6 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: NDUA6_HUMAN, P56556 (See
protein sequence)Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 Size: 154 amino acids; 17871 Da
Subunit: Mammalian complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Caution: It is uncertain whether Met-1 or Met-27 is the initiator
Sequence caution: Sequence=AAC04267.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAF84563.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG38151.1;Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW60489.1; Type=Erroneous initiation;Note=Translation N-terminally extended;
Secondary accessions: B2RE54 O43675 Q6FGW0 Q6IBT8 Q6IC39Explore the universe of human proteins at neXtProt for NDUFA6: NX_P56556
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P56556
NDUFA6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002481.2
ENSEMBL proteins: ENSP00000418842 Reactome Protein details: P56556
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
NDUFA6 for ontologies About GeneDecksing
NDUFA6 Antibody Products:
Assay Products for NDUFA6: |
Protein
Domains /
Families
for NDUFA6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NDUFA6 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P56556ProtoNet protein and cluster: P56556 1 Blocks protein family: IPB008011 Complex 1 LYR protein
UniProtKB/Swiss-Prot: NDUA6_HUMAN, P56556Similarity: Belongs to the complex I LYR family |
Function
for NDUFA6 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
|
Function Summary:
UniProtKB/Swiss-Prot: NDUA6_HUMAN, P56556Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that isbelieved to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to therespiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone Genatlas biochemistry entry for NDUFA6:NADH ubiquinone oxidoreductase (Q reductase),14kDa,component alpha 6,hydrophobic fraction of the complex Imulti-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFA6
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA6 |
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:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | 9878551 |
NDUFA6 for ontologies About GeneDecksing
|
Pathways & Interactions
for NDUFA6 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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for NDUFA6
4 
Reactome Pathways for NDUFA6
5 
Kegg Pathways (Kegg details for NDUFA6):
NDUFA6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA6
5/14 Interacting proteins for NDUFA6 (P565562, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
NDUFA6 for ontologies About GeneDecksing
|
Drugs & Compounds
for NDUFA6 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 NDUFA6
8 HMDB Compounds for NDUFA6 About this table
1 DrugBank Compound for NDUFA6 About this table
Search CenterWatch for drugs/clinical trials and news about NDUFA6 / NDUA6
|
Transcripts
for NDUFA6 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 NDUFA6 gene: NM_002490.3 Unigene Cluster for NDUFA6: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa Hs.274416 [show with all ESTs]Unigene Representative Sequence: NM_0024902 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000498737(uc003bcb.3) ENST00000470753
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFA6 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFA6
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NDUFA6 (NM_002490) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF047182.1 AK291874.1 AK316562.1 BC002772.1 CR456529.1 CR456714.1 CR541997.1 16 DOTS entries: DT.91942773 DT.317941 DT.91965491 DT.91995455 DT.120667061 DT.40123356 DT.120667023 DT.92055462 DT.100822440 DT.101987219 DT.91994536 DT.99991968 DT.120667072 DT.95241609 DT.97847080 DT.95241578 24/386 AceView cDNA sequences (see all 386): BM704473 AI340207 AI096941 BQ279074 AI382147 AI572519 AI350860 AI334121 AF047182 CR541997 BF663346 AA836976 BG683187 CB126700 BE892857 BQ668782 BM983268 BP873145 CR620155 BE274309 BG990623 CA427429 BQ883303 CB135867
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA6 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c |
|---|
|
| SP1: | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for NDUFA6
|
Expression
for NDUFA6 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
| NDUFA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See NDUFA6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFA6
SOURCE GeneReport for Unigene cluster: Hs.274416
SABiosciences Expression via Pathway-Focused PCR Array including NDUFA6:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFA6
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA6 |
Orthologs
for NDUFA6 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
|
This gene was present in the common ancestor of animals.
Orthologs for NDUFA6 gene from 7/24 species (see all 24) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ndufa61 , 5 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 |
87.93(n)1
88.19(a)1 |
|
15 (38.56 cM)5
671301 NM_025987.31 NP_080263.11
823501395 |
chicken
(Gallus gallus) |
Aves |
NDUFA61 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more |
77.98(n)
84.82(a) |
|
427897 XM_425471.3 XP_425471.2 |
lizard
(Anolis carolinensis) |
Reptilia |
NDUFA66 |
-- |
75(a) |
1 ↔ 1 |
5(27098407-27101609) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.101862 |
Xenopus laevis transcribed sequence with moderate similarity more |
71.61(n) |
|
48060568 |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc567172 |
similar to NADH dehydrogenase (ubiquinone) 1 alpha more |
77.55(n) |
|
393943 BC042332.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG77121 , 3 |
NADH dehydrogenase (ubiquinone)3
CG77121 |
48(a)3
56.01(n)1
50(a)1 |
|
47C33
361591 NM_136785.21 NP_610629.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
nuo-36 |
NADH Ubiquinone Oxidoreductase family member (nuo-... |
31(a) |
1 ↔ 1 |
IV(14796385-14797482) |
ENSEMBL Gene Tree for NDUFA6 (if available)
TreeFam Gene Tree for NDUFA6 (if available) |
Paralogs
for NDUFA6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for NDUFA6 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 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NDUFA6 (42481529 - 42486959 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NDUFA6: --
Human Gene Mutation Database (HGMD): NDUFA6
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFA6 |
|
Disorders
/ Diseases
for NDUFA6 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
|
NDUFA6 for disorders About GeneDecksing
OMIM gene information: 602138
OMIM disorders: --
8  diseases for NDUFA6: About MalaCards21-hydroxylase deficiency immunoglobulin alpha deficiency iron overload polycystic ovary syndrome
adrenal hyperplasia hemochromatosis huntington's disease parkinson's disease
Human Genome Epidemiology (HuGE) Navigator: NDUFA6 (5 documents)
Export disorders for NDUFA6 gene to outside databases
|
Publications
for NDUFA6 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 NDUFA6 gene, integrated from 9 sources (see all 26):
(articles sorted by number of sources associating them with NDUFA6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PubMed id 9425316)1, 2, 3 Ton C....Liew C.C. (1997)
- 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 genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
- Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. (PubMed id 9763676)1, 3 Emahazion T. and Brookes A.J. (1998)
- In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes. (PubMed id 9345899)1, 9 Dunbar D.R....Brookes A.J. (1997)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
|
External Searches for NDUFA6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NDUFA6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NDUFA6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NDUFA6 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 NDUFA6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NDUFA6 gene:
Search GeneIP for patents involving NDUFA6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NDUFA6 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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