NDUFS1 Gene
protein-coding GIFtS: 62
GCID: GC02M206986
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|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme...(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme...)
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Aliases for NDUFS1 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) Fe-S Protein 1, 75kDa (NADH-Coenzyme QReductase)1 2 | | Mitochondrial NADH-Ubiquinone Oxidoreductase 75 KDa Subunit2 | | CI-75k1 2 | | NADH-Ubiquinone Oxidoreductase 75 KDa Subunit, Mitochondrial2 | | NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1 (75kD) (NADH-Coenzyme QReductase)1 | | CI-75kD3 | | CI-75Kd2 | | EC 1.6.5.33 | | PRO13042 | | EC 1.6.99.33 | | Complex I 75kDa Subunit2 | | Complex I-75kD3 | | Complex I, Mitochondrial Respiratory Chain, 75-KD Subunit2 | | |
Export aliases for NDUFS1 gene to outside databasesPrevious GC identifers: GC02M205205 GC02M205712 GC02M206950 GC02M207188 GC02M207190 GC02M206813 GC02M206695 GC02M198836 |
Summaries for NDUFS1 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 NDUFS1: The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity andoxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptorfor the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component ofthe iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized.Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding differentisoforms have been found for this gene. (provided by RefSeq, Jan 2011) UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It mayform part of the active site crevice where NADH is oxidized Gene Wiki entry for NDUFS1
|
Genomic Views for NDUFS1 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_000002.11 NC_018913.1 NT_005403.17
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NDUFS1 gene promoter: C/EBPbeta Elk-1 Brachyury STAT5A C/EBPalpha AREB6 CHOP-10 POU2F1 POU2F1a ATF6 Other transcription factors
Search SABiosciences Chromatin IP Primers for NDUFS1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFS1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q33-q34 Ensembl cytogenetic band: 2q33.3 HGNC cytogenetic band: 2q33-q34NDUFS1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M206986: view genomic region
(about GC identifiers)
Start:
|
206,986,149 bp from pter |
End:
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207,024,327 bp from pter |
Size:
|
38,179 bases |
Orientation:
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minus strand |
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Proteins for NDUFS1 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: NDUS1_HUMAN, P28331 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor Size: 727 amino acids; 79468 Da
Cofactor: Binds 1 2Fe-2S cluster per subunit (By similarity)
Cofactor: Binds 2 4Fe-4S clusters per subunit (By similarity)
Subunit: Complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane
Secondary accessions: B4DIN9 B4DJA0 B4DPG1 B4DUC1 E7ENF3 Q53TR8 Q8N1C4 Q8TCC9Alternative splicing: 5 isoforms: P28331-1 P28331-2 P28331-3 P28331-4 P28331-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for NDUFS1: NX_P28331
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P28331 NDUFS1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001186910.1 NP_001186911.1 NP_001186912.1 NP_001186913.1 NP_004997.4 ENSEMBL proteins: ENSP00000233190 ENSP00000397760 ENSP00000400976 ENSP00000409766 ENSP00000399912 ENSP00000409689 ENSP00000395553 ENSP00000389413 ENSP00000392709 Reactome Protein details: P28331 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
NDUFS1 for ontologies About GeneDecksing
NDUFS1 Antibody Products: Assay Products for NDUFS1: |
Protein
Domains / Families for NDUFS1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NDUFS1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P28331ProtoNet protein and cluster: P28331 2 Blocks protein families: IPB000283 Respiratory-chain NADH dehydrogenase 75 kDa subunit IPB001041 Ferredoxin
UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331Similarity: Belongs to the complex I 75 kDa subunit familySimilarity: Contains 1 2Fe-2S ferredoxin-type domain |
Function for NDUFS1 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: NDUS1_HUMAN, P28331Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It mayform part of the active site crevice where NADH is oxidizedCatalytic activity: NADH + ubiquinone = NAD(+) + ubiquinolCatalytic activity: NADH + acceptor = NAD(+) + reduced acceptor Genatlas biochemistry entry for NDUFS1:NADH ubiquinone dehydrogenase (Q reductase),75kDa,component of the complex I multi-subunit enzyme of the oxidativephosphorylation (OXPHOS),iron-sulfur protein 1,inner mitochondrial membrane Enzyme Numbers (IUBMB): EC 1.6.99.31 EC 1.6.5.31
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 NDUFS1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFS1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): NDUFS1 (NM_005006) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NDUFS1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFS1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS1 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
NDUFS1 for ontologies About GeneDecksing
|
Pathways & Interactions for NDUFS1 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 | | | 3 | Metformin Pathway, Pharmacodynamic | |
Pathway sources See GeneCards unified pathways Show all pathways
2 BioSystems Pathways for NDUFS1 
4
Reactome Pathways for NDUFS1 1 PharmGKB Pathway for NDUFS1 5
Kegg Pathways (Kegg details for NDUFS1):
NDUFS1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFS1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/303 Interacting proteins for NDUFS1 (P283312, 3 ENSP000002331904) via UniProtKB, MINT, STRING, and/or I2D (see all 303)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
NDUFS1 for ontologies About GeneDecksing
|
Drugs & Compounds for NDUFS1 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 NDUFS1
9 HMDB Compounds for NDUFS1 About this table
1 DrugBank Compound for NDUFS1 About this table
Search CenterWatch for drugs/clinical trials and news about NDUFS1 / NDUS1 
|
Transcripts for NDUFS1 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 NDUFS1 gene (5 alternative transcripts): NM_001199981.1 NM_001199982.1 NM_001199983.1 NM_001199984.1 NM_005006.6 Unigene Cluster for NDUFS1: NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) Hs.471207 [show with all ESTs]Unigene Representative Sequence: BC03083310 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000233190(uc010ziq.2 uc002vbe.3 uc010zir.2 uc010zis.2 uc010zit.2 uc010ziu.2) ENST00000423725 ENST00000457011 ENST00000440274 ENST00000449699 ENST00000432169 ENST00000498520 ENST00000456284 ENST00000454195 ENST00000455934
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFS1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFS1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): NDUFS1 (NM_005006) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NDUFS1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFS1  |
Additional cDNA sequence: AK098395.1 AK295705.1 AK295966.1 AK295987.1 AK298320.1 AK300585.1 BC004133.2 BC012068.1 BC018900.1 BC022368.1 BC030833.1 BC113969.1 X61100.1 12 DOTS entries: DT.75192845 DT.100784130 DT.100784127 DT.91748760 DT.100784128 DT.121012994 DT.40118273 DT.92052606 DT.40293385 DT.121012946 DT.121012971 DT.97816121 24/262 AceView cDNA sequences (see all 262): AI372076 AA908880 AA782466 NM_005006 N32061 BP338160 BQ001746 BU622037 BQ574455 AA643580 CB306738 W02081 BM457919 AI888784 AJ708884 BU624022 BM720446 BQ882763 BE301761 BC012068 AA255456 BM468661 BM977881 BU149717 GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for NDUFS1
|
Expression for NDUFS1 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
| NDUFS1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TATTGTGTGT
About this image See NDUFS1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for NDUFS1
SOURCE GeneReport for Unigene cluster: Hs.471207 SABiosciences Expression via Pathway-Focused PCR Array including NDUFS1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFS1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NDUFS1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFS1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFS1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS1 |
Orthologs for NDUFS1 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 last universal common ancestor (LUCA).
Orthologs for NDUFS1 gene from 10/34 species (see all 34) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Ndufs11 , 5 |
NADH dehydrogenase (ubiquinone) Fe-S protein 11, 5 |
90.74(n)1 94.09(a)1 |
  |
1 (32.29 cM)5 2271971 NM_145518.21 NP_663493.21 631435965 |
chicken (Gallus gallus) |
Aves |
NDUFS11 |
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa more |
78.82(n) 86.8(a) |
  |
424102 NM_001006518.1 NP_001006518.1 |
lizard (Anolis carolinensis) |
Reptilia |
NDUFS16 |
-- |
85(a) |
1 ↔ 1 |
GL343208.1(659283-677898) |
African clawed frog (Xenopus laevis) |
Amphibia |
BC049394.12 |
-- |
77.3(n) |
  |
BC049394.1 |
zebrafish (Danio rerio) |
Actinopterygii |
wufb33h052 |
Transcribed sequence with moderate similarity to protein more |
78.22(n) |
  |
CF265860.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
ND751 , 3 |
oxidative phosphorylation, NADH to ubiquinone more3 NADH:ubiquinone reductase 75kD subunit precursor1 |
60(a)3 57.53(n)1 63.35(a)1 |
  |
1 7E13 317621 NM_078528.21 NP_511083.11 |
worm (Caenorhabditis elegans) |
Secernentea |
nuo-51 |
Protein NUO-5 |
58.79(n) 59.6(a) |
  |
178735 NM_071332.4 NP_503733.1 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
EMB14671 |
NADH-ubiquinone oxidoreductase subunit |
58.59(n) 55.95(a) |
  |
833729 NM_123110.2 NP_568550.1 |
rice (Oryza sativa) |
Liliopsida |
Os.121172 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
74.98(n) |
  |
AK071307.1 |
E. coli (Escherichia coli) |
Gamma proteobacteria |
nuoG6 |
NADH:ubiquinone oxidoreductase, chain G |
18(a) |
1 ↔ 1 |
Chromosome(2395461-2398187) |
ENSEMBL Gene Tree for NDUFS1 (if available) TreeFam Gene Tree for NDUFS1 (if available)  |
Paralogs for NDUFS1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for NDUFS1 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 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for NDUFS1 (206986149 - 207024327 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for NDUFS1: -- Human Gene Mutation Database (HGMD): NDUFS1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFS1 |
|
Disorders
/ Diseases for NDUFS1 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
|
NDUFS1 for disorders About GeneDecksing
OMIM gene information: 157655 OMIM disorders: 252010 UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331
Defects in NDUFS1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of themitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease toadult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specificencephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and someforms of Parkinson disease 12 diseases for NDUFS1: About MalaCardsleber hereditary optic neuropathy mitochondrial complex i deficiency leigh disease leukodystrophy huntington's disease neuropathy parkinson's disease schizophrenia tuberculosis prostatitis carcinoma mycobacterium tuberculosis 1 disease from the University of Copenhagen DISEASES database for NDUFS1:Leigh disease Human Genome Epidemiology (HuGE) Navigator: NDUFS1 (5 documents) Export disorders for NDUFS1 gene to outside databases
|
Publications for NDUFS1 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 NDUFS1 gene, integrated from 9 sources (see all 44): (articles sorted by number of sources associating them with NDUFS1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase. (PubMed id 1935949)1, 2, 3 Chow W.... Robinson B.H. (1991)
- Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PubMed id 11349233)1, 2, 9 Benit P....Roetig A. (2001)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- 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)
- 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)
- Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. (PubMed id 16478720)1, 9 Iuso A....Papa S. (2006)
- Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33----q34. (PubMed id 1505218)1, 9 Duncan A.M....Robinson B.H. (1992)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)
- Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
|
External Searches for NDUFS1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing NDUFS1 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 NDUFS1 gene
(According to HUGE)
About This Section
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Specialized Databases showing NDUFS1 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
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| Name | Description |
| PharmGKB entry for NDUFS1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS1 |
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About This Section
| Patent Information for NDUFS1 gene: Search GeneIP for patents involving NDUFS1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for NDUFS1 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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| | | | OriGene Antibodies for NDUFS1 | | OriGene shRNA RFP for NDUFS1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NDUFS1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFS1 | | OriGene Protein Over-expression Lysate for NDUFS1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for NDUFS1 | | OriGene 3'-UTR Clone for NDUFS1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFS1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFS1 | | 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 NDUFS1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for NDUFS1 | | OriGene Custom Protein Services for NDUFS1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NDUFS1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFS1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFS1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFS1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFS1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFS1 |
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| | | Search Tocris compounds for NDUFS1 |
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 | | NDUFS1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS1 |
|  |  |  | | | ThermoFisher Antibody for NDUFS1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFS1 |
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