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

PYROXD1 Gene

protein-coding   GIFtS: 47
GCID: GC12P021590

Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1

  Search for PYROXD1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pyridine Nucleotide-Disulphide Oxidoreductase Domain 11 2
Pyridine Nucleotide-Disulfide Oxidoreductase Domain-Containing Protein 12
EC 1.8.1.-3
EC 1.8.18

External Ids:    HGNC: 261621   Entrez Gene: 799122   Ensembl: ENSG000001213507   UniProtKB: Q8WU103   

Export aliases for PYROXD1 gene to outside databases

Previous GC identifers: GC12P021482 GC12P021364


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for PYROXD1 Gene: 
PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1) is a protein-coding gene. GO annotations related to this gene include oxidoreductase activity.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PYROXD1 gene promoter:
         Pax-2   Pax-2a   Arnt   Max   NRF-2   FOXJ2 (long isoform)   FOXJ2   Pax-4a   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPYROXD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PYROXD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PYROXD1


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

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

PYROXD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PYROXD1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P021590:  view genomic region     (about GC identifiers)

Start:
21,590,538 bp from pter      End:
21,624,184 bp from pter
Size:
33,647 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PYRD1_HUMAN, Q8WU10 (See protein sequence)
Recommended Name: Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1  
Size: 500 amino acids; 55793 Da
Cofactor: Binds 1 FAD per subunit (By similarity)
Sequence caution: Sequence=BAB15214.1; Type=Frameshift; Positions=445;
Secondary accessions: A6NKI6 Q9H6P1

Explore the universe of human proteins at neXtProt for PYROXD1: NX_Q8WU10

Explore proteomics data for PYROXD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WU10

  • 4/10 DME Specific Peptides for PYROXD1 (Q8WU10) (see all 10)
     CEVKKIYL  YEIEGCEV  GNGGIALEL  LEEFDVEEQ 

    PYROXD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PYROXD1 Protein Expression
    REFSEQ proteins: NP_079130.2  
    ENSEMBL proteins: 
     ENSP00000440192   ENSP00000364415   ENSP00000240651   ENSP00000439106   ENSP00000438505  
     ENSP00000444800   ENSP00000443912  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013027 FAD_pyr_nucl-diS_OxRdtase
     IPR023753 Pyr_nucl-diS_OxRdtase_FAD/NAD

    Graphical View of Domain Structure for InterPro Entry Q8WU10

    ProtoNet protein and cluster: Q8WU10

    UniProtKB/Swiss-Prot: PYRD1_HUMAN, Q8WU10
    Similarity: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily


    PYROXD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Enzyme Numbers (IUBMB): EC 1.8.12 EC 1.8.1.-1

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
         
    PYROXD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PYROXD1:
     Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PYROXD1 
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    SwitchGear 3'UTR luciferase reporter plasmidPYROXD1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PYROXD1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/8 Interacting proteins for PYROXD1 (Q8WU102, 3 ENSP000002406514) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPRTQ96BW12, 3, ENSP000003624814MINT-66310 I2D: score=4 STRING: ENSP00000362481
    METTL1Q9UBP63, ENSP000003144414I2D: score=5 STRING: ENSP00000314441
    C10orf2Q96RR13I2D: score=5 
    ERGIC2Q96RQ13I2D: score=5 
    PGDP522093I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055114oxidation-reduction process ----

    PYROXD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PYROXD1 (PYRD1)

    2 HMDB Compounds for PYROXD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid2-KDN (see all 18)22594-61-2--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--

    Search CenterWatch for drugs/clinical trials and news about PYROXD1 / PYRD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PYROXD1 gene: 
    NM_024854.3  

    Unigene Cluster for PYROXD1:

    Pyridine nucleotide-disulphide oxidoreductase domain 1
    Hs.709545  [show with all ESTs]
    Unigene Representative Sequence: NM_024854
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000543476 ENST00000375266 ENST00000240651(uc001rew.3 uc009ziq.3)
    ENST00000544970 ENST00000538582 ENST00000538072 ENST00000544187 ENST00000536851
    ENST00000538615 ENST00000545178
    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PYROXD1:
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    SwitchGear 3'UTR luciferase reporter plasmidPYROXD1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PYROXD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PYROXD1

    Additional mRNA sequence: 

    AK025681.1 AK095813.1 AK125461.1 AK293820.1 AK307710.1 AL832441.1 BC021662.1 DQ786312.1 

    15 DOTS entries:

    DT.415003  DT.75102422  DT.92435879  DT.415004  DT.121197305  DT.92435875  DT.121197214  DT.100797541 
    DT.121197301  DT.40130134  DT.100797544  DT.121197229  DT.121197252  DT.99947657  DT.95284340 

    24/120 AceView cDNA sequences (see all 120):

    AI671558 BM457957 AA456585 CR594393 AA939175 BM263857 AI560139 BM973819 
    AI478320 AI474213 AA084031 BE502851 AI685944 BX327486 AI636512 BM976615 
    AA889357 AA969326 AI434812 AA171768 BM473893 BF057856 T25148 BQ776691 

    GeneLoc Exon Structure


    (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

    PYROXD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTCATTG
    PYROXD1 Expression
    About this image


    See PYROXD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PYROXD1

    SOURCE GeneReport for Unigene cluster: Hs.709545
        SABiosciences Custom PCR Arrays for PYROXD1
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    In Situ
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    (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 PYROXD1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pyroxd11 , 5 pyridine nucleotide-disulphide oxidoreductase domain more1, 5 83.17(n)1
    85.51(a)1
      6 (73.90 cM)5
    2324911  NM_183165.31  NP_898988.21 
     1423456545 
    chicken
    (Gallus gallus)
    Aves PYROXD11 pyridine nucleotide-disulphide oxidoreductase domain more 75.03(n)
    77.11(a)
      418191  XM_416422.2  XP_416422.1 
    lizard
    (Anolis carolinensis)
    Reptilia PYROXD16
    Uncharacterized protein
    74(a)
    1 ↔ 1
    5(8253399-8273081)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164052 Xenopus laevis transcribed sequence with weak similarity more 73.84(n)    BJ614187.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc732542 hypothetical protein MGC73254 74.92(n)   393736  BC059591.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG107211 CG10721 53.68(n)
    49.57(a)
      35296  NM_136179.2  NP_610023.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C26D10.31 Protein C26D10.3 46.39(n)
    36.67(a)
      182937  NM_063353.2  NP_495754.2 


    ENSEMBL Gene Tree for PYROXD1 (if available)
    TreeFam Gene Tree for PYROXD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PYROXD1 gene

    PYROXD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PYROXD1
    PGOHUM00000258576


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/885 SNPs in PYROXD1 are shown (see all 885)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393497941,2
    C--21588551(+) GCTGCC/TCTCCC 1 -- us2k10--------
    rs730717481,2
    C,F--21588602(+) ACCCAC/TTTTAC 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1912583651,2
    --21588672(+) ACCCTC/TAGACA 1 -- us2k10--------
    rs1831649781,2
    --21588674(+) CCTTAA/GACATT 1 -- us2k10--------
    rs38092071,2
    C,F,H--21588816(-) GGAGGC/TTCCTC 1 -- us2k123Minor allele frequency- T:0.14EA NS NA WA 4034
    rs79793051,2
    C,F,H--21588844(+) TCCCAT/CAGACG 1 -- us2k117Minor allele frequency- C:0.01NS EA NA WA CSA 798
    rs1455526081,2
    C--21588980(+) TCTTT-/AGAAGGAC 1 -- us2k10--------
    rs123727741,2
    C,F,H--21589091(+) AAAAAT/CAATCC 1 -- us2k110Minor allele frequency- C:0.36NS EA NA WA 782
    rs745411631,2
    C,F--21589195(+) GTGCTA/GTAAGA 1 -- us2k15Minor allele frequency- G:0.05NA CSA WA EA 362
    rs1500461491,2
    --21589206(+) ACACAC/GGGAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PYROXD1 (21590538 - 21624184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PYROXD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv898895CNV Loss21882294
    nsv526789CNV Loss19592680
    nsv469163CNV Loss19166990
    nsv898896CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PYROXD1 for disorders           About MalaCards

    PYROXD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PYROXD1
    Human Genome Epidemiology (HuGE) Navigator: PYROXD1 (2 documents)

    Export disorders for PYROXD1 gene to outside databases

    (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 PYROXD1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with PYROXD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. 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)
    9. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79912 HGNC: 26162 AceView: FLJ22028 Ensembl:ENSG00000121350 euGenes: HUgn79912
    ECgene: PYROXD1 H-InvDB: PYROXD1

    (According to HUGE)
    About This Section
      --

    (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 PYROXD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PYROXD1 gene:
    Search GeneIP for patents involving PYROXD1

    GeneCards and IP:
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