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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFA5 Gene

protein-coding   GIFtS: 59
GCID: GC07M123177

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD,...)
 Explore 19 diseases affiliated with
NDUFA5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NDUFA5    

Aliases
for NDUFA5 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, 5, 13kDa1 2     NADH-Ubiquinone Oxidoreductase 13 KDa-B Subunit2 3
UQOR131 2 5     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5 (13kD, B13)1
B131 2     Complex I 13kDa Subunit B2
CI-13KD-B1 2     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 52
CI-13kB1 2     Type I Dehydrogenase2
NUFM1 2     Ubiquinone Reductase2
Complex I Subunit B132 3     CI-13kD-B3
Complex I-13kD-B2 3     

External Ids:    HGNC: 76881   Entrez Gene: 46982   Ensembl: ENSG000001286097   OMIM: 6016775   UniProtKB: Q167183   

Export aliases for NDUFA5 gene to outside databases

Previous GC identifers: GC07M121658 GC07M122721 GC07M122735 GC07M122775 GC07M122964 GC07M117543


Summaries
for NDUFA5 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 NDUFA5:
The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from
NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional
significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7
component-containing, water soluble 'iron-sulfur protein' (IP) fraction of complex I, although its specific role is
unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next
amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein
has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in
hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified
on four other chromosomes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is
believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the
respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone

Gene Wiki entry for NDUFA5


Genomic Views
for NDUFA5 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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFA5 gene promoter:
         c-Fos   C/EBPbeta   NF-1   NF-1/L   AP-1   FOXO3   FOXO3b   FOXO4   FOXO3a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NDUFA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.33   Ensembl cytogenetic band:  7q31.32   HGNC cytogenetic band: 7q31.33

NDUFA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M123177:  view genomic region     (about GC identifiers)

Start:
 123,177,051 bp from pter      End:
 123,198,309 bp from pter
Size:
 21,259 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 122,569,696-122,586,588     

Proteins
for NDUFA5 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: NDUA5_HUMAN, Q16718 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5  
Size: 116 amino acids; 13459 Da
Subunit: Complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: B2RD98 Q6IRX7

Explore the universe of human proteins at neXtProt for NDUFA5: NX_Q16718

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16718

    • NDUFA5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004991.1  
    ENSEMBL proteins: 
     ENSP00000417142   ENSP00000347988   ENSP00000368072   ENSP00000417331   ENSP00000418633  
    Reactome Protein details: Q16718
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551


    NDUFA5 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NDUFA5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NDUFA5 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006806 ETC_CI_29_9

    Graphical View of Domain Structure for InterPro Entry Q16718

    ProtoNet protein and cluster: Q16718

    1 Blocks protein family: IPB006806 ETC complex I subunit

    UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718
    Similarity: Belongs to the complex I NDUFA5 subunit family


    Function
    for NDUFA5 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: NDUA5_HUMAN, Q16718
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is
    believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the
    respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone

         Genatlas biochemistry entry for NDUFA5:
    NADH ubiquinone oxidoreductase (Q reductase),component alpha 5,hydrophobic fraction of the complex I multi-subunit
    enzyme of the oxidative phosphorylation (OXPHOS),13kDa,,homologous to bovine and rat subunit B13

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----


    NDUFA5 for ontologies           About GeneDecksing



    Pathways & Interactions
    for NDUFA5 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-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    8/9 pathways (see all 9)
    		Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    		Parkinson's disease0.61
    		Respiratory electron transport0.81
    		Oxidative phosphorylation0.52
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NDUFA5 
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for NDUFA5
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5         Kegg Pathways  (Kegg details for NDUFA5):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFA5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/68 Interacting proteins for NDUFA5 (Q167183 ENSP000003479884) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158343, ENSP000003116954I2D: score=4 STRING: ENSP00000311695
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0022904respiratory electron transport chain TAS--
    GO:0044281small molecule metabolic process TAS--


    NDUFA5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NDUFA5 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

    NDUFA5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFA5

    8 HMDB Compounds for NDUFA5    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFA5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17209562 17444656

    8 Novoseek chemical compound relationships for NDUFA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ubiquinone 82.6 6 14695919 (2), 17894548 (1), 11403652 (1), 7757062 (1) (see all 5)
    rotenone 79.6 1 9831004 (1)
    nadh 72.7 3 11403652 (1), 16329995 (1), 1905649 (1)
    ferricyanide 68.6 1 1905649 (1)
    quinone 65.2 2 1497345 (2)
    semiquinone 57.2 1 7757062 (1)
    hydrogen 9.01 1 11403652 (1)
    atp 0 1 10071211 (1)

    Search CenterWatch for drugs/clinical trials and news about NDUFA5 / NDUA5 

    Transcripts
    for NDUFA5 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 NDUFA5 gene: 
    NM_005000.2  

    Unigene Cluster for NDUFA5:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
    Hs.651219  [show with all ESTs]
    Unigene Representative Sequence: NM_005000
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471770 ENST00000355749(uc003vks.3) ENST00000378795 ENST00000459880
    ENST00000466896 ENST00000467117 ENST00000470123 ENST00000492549 ENST00000491033
    ENST00000490618(uc003vkt.1)

    miRNA
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    hsa-miR-2052 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmid: NDUFA5 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK315458.1 BC000813.1 BC020821.1 BC070236.1 BC070237.1 BT006695.1 U53468.1 U64028.1 

    24/27 DOTS entries (see all 27):

    DT.452008  DT.97859663  DT.121079746  DT.91775843  DT.100823843  DT.121079760  DT.100823845  DT.121079732 
    DT.100823839  DT.121079792  DT.87015316  DT.91843498  DT.92355918  DT.100736757  DT.100823835  DT.100823840 
    DT.121079756  DT.121079765  DT.75194699  DT.95266854  DT.97765293  DT.99990054  DT.100809092  DT.100823838 

    24/725 AceView cDNA sequences (see all 725):

    CD678214 CA773727 NM_005000 CD676930 BM055402 BG289229 BQ777908 AV708208 
    AA234786 BQ574809 AA357044 N75063 BM055372 BQ049180 BU069455 CR606314 
    CD677163 CA395116 AA412050 BQ717907 AA441852 AW074690 CA336592 AA808927 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA5 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
    SP1:                    -     -     -           -     -     -                                 
    SP2:                    -                       -     -     -                                 
    SP3:                    -     -     -           -           -                                 
    SP4:                                            -     -     -                                 
    SP5:                                                                                          


    ECgene alternative splicing isoforms for NDUFA5

    Expression
    for NDUFA5 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

    NDUFA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTTTCGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NDUFA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFA5

    SOURCE GeneReport for Unigene cluster: Hs.651219

    UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718
    Tissue specificity: Expressed in all tissues examined with highest levels in heart, skeletal muscle and brain

        SABiosciences Expression via Pathway-Focused PCR Array including NDUFA5: 
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    In Situ
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    Orthologs
    for NDUFA5 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 eukaryotes.

    Orthologs for NDUFA5 gene from 9/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ndufa51 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 less1, 5 83.62(n)1
    82.76(a)1    		   6 (11.28 cM)5
    682021  NM_026614.21  NP_080890.11 
     245186665 
    chicken
    (Gallus gallus)    		 Aves NDUFA51 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa less 73.56(n)
    71.55(a)    		   417753  NM_001097637.1  NP_001091106.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NDUFA56
    		 --
    		 74(a)
    		 1 ↔ 1
    		 5(67500184-67504238)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.154812 Transcribed sequence with moderate similarity to protein spQ16718 (H.sapiens) NUFM_HUMAN NADH-ubiquinone oxidoreductase 13 kDa-B subunit (Complex I-13Kd-B) (CI-13Kd-B) (Complex I subunit B13) less 76.47(n)    137696040 
    zebrafish
    (Danio rerio)    		 Actinopterygii CK361353.12   -- 72.66(n)    CK361353.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG64631 CG6463 53.62(n)
    50.43(a)    		   39214  NM_140152.1  NP_648409.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea C33A12.13
    CELE_C33A12.11    		 NADH-ubiquinone oxidoreductase 13 KD-B
    subunit less3
    Protein C33A12.11    		 54(a)3
    56.76(n)1
    54.05(a)1    		   IV(9523720-9525297)3
    1777861  NM_069287.31  NP_501688.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G528406
    		 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    		 24(a)
    		 1 ↔ 1
    		 5(21413646-21415006)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 NADH dehydrogenase 1 alpha subcomplex subunit 5, p...
    		 26(a)
    		 1 ↔ 1
    		 3(11179673-11182680)


    ENSEMBL Gene Tree for NDUFA5 (if available)
    TreeFam Gene Tree for NDUFA5 (if available) 

    Paralogs
    for NDUFA5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFA5 gene
    1 SIMAP similar gene for NDUFA5 using alignment to 4 protein entries:     NDUA5_HUMAN (see all proteins):
    DKFZp781K1356

    NDUFA5 for paralogs           About GeneDecksing


    5/13 Pseudogenes.org Pseudogenes for NDUFA5 (see all 13)
    PGOHUM00000242553 PGOHUM00000242554 PGOHUM00000239954 PGOHUM00000248882 PGOHUM00000244139


    Genomic Variants
    for NDUFA5 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

    10/306 NCBI SNPs in NDUFA5 are shown (see all 306)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1812592141,2
    		--123180629(+) TGAAAA/GTGTTG 1 -- ds50010--------
    rs1847046731,2
    		--123180709(+) CTCAAC/TGTAGT 1 -- ds50010--------
    rs1448557131,2
    		--123180766(+) TTCTAA/TCTCCC 1 -- ds50010--------
    rs1481397041,2
    		--123180873(+) ATGAGA/GGGAGA 1 -- ds50010--------
    rs1440354521,2
    		--123180904(+) AAATAC/TCATTT 1 -- ds50010--------
    rs2017846211,2
    		--123180938(+) CGCAT-/GCGCGTG 1 -- ds50010--------
    rs69433981,2
    		A,--123180943(+) GCGCGC/TGcaca 1 -- ds50010--------
    rs1425747971,2
    		C,--123180943(+) CGCGT-/GCGCGC
                GCACA     		1 -- ds50010--------
    rs102800401,2
    		C,--123180946(+) CGTGCA/GCACAC 1 -- ds5001 ese30--------
    rs102800411,2
    		C--123180948(+) TGCACA/GCACAC 1 -- ds5001 ese30--------

    HapMap Linkage Disequilibrium report for NDUFA5 (123177051 - 123198309 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NDUFA5: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFA5
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    Disorders / Diseases
    for NDUFA5 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
    NDUFA5 for disorders           About GeneDecksing

    OMIM gene information: 601677    OMIM disorders: --

    19 diseases for NDUFA5:    About MalaCards
    leber hereditary optic neuropathy    ankylosing spondylitis    multiple system atrophy    psoriatic arthritis
    fanconi's anemia    respiratory failure    spondylitis    huntington's disease
    neuropathy    cardiomyopathy    parkinson's disease    anemia
    cervical carcinoma    cervicitis    arthritis    psoriasis
    hypoxia    carcinoma    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for NDUFA5:
    Psoriasis     Chagas disease     Psoriatic arthritis
    Human Genome Epidemiology (HuGE) Navigator: NDUFA5 (5 documents)

    Export disorders for NDUFA5 gene to outside databases

    Publications
    for NDUFA5 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 NDUFA5 gene, integrated from 9 sources (see all 56):
    (articles sorted by number of sources associating them with NDUFA5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15. (PubMed id 9021153)1, 2, 3 Russell M.W....Brody L.C. (1997)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. 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)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Genomic organization of the human complex I 13-kDa subunit gene NDUFA5. (PubMed id 10343126)1, 2 Tensing K.... Metspalu A. (1999)
    7. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)1, 3 Emahazion T....Brookes A.J. (1998)
    8. A human cDNA encoding the homologue of NADH:ubiquinone oxidoreductase subunit B13. (PubMed id 9048877)1, 2 Pata I.... Metspalu A. (1997)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for NDUFA5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NDUFA5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4698 HGNC: 7688 AceView: NDUFA5 Ensembl:ENSG00000128609 euGenes: HUgn4698
    ECgene: NDUFA5 Kegg: 4698 H-InvDB: NDUFA5

    Other Databases showing NDUFA5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NDUFA5 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
    NameDescription
    PharmGKB entry for NDUFA5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NDUFA5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NDUFA5 gene:
    Search GeneIP for patents involving NDUFA5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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