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

KIAA1191 Gene

protein-coding   GIFtS: 45
GCID: GC05M175773

KIAA1191

 Explore 4 diseases affiliated with
KIAA1191 via our new
 Human Malady Compendium 
Biological research products
for KIAA1191
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KIAA11911 2     Putative Monooxygenase P33MONOX2
Brain-Derived Rescue Factor P60MONOX2 3     EC 1.-.-.-3
FLJ210221     P33MONOX3
Flavine Monooxygenase Motif-Containing Protein Of 33 KDa2     Flavin Monooxygenase Motif-Containing Protein Of 33 KDa3
P60MONOX1     

External Ids:    HGNC: 292091   Entrez Gene: 571792   Ensembl: ENSG000001222037   UniProtKB: Q96A733   

Export aliases for KIAA1191 gene to outside databases

Previous GC identifers: GC05M176084 GC05M176591 GC05M175708 GC05M175753 GC05M175705 GC05M170697


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

UniProtKB/Swiss-Prot: P33MX_HUMAN, Q96A73
Function: Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival,
differentiation and axonal outgrowth




(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_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1191 gene promoter:
         AML1a   FOXO3   CUTL1   Tal-1beta   FOXO3b   AREB6   Nkx6-1   HFH-1   FOXO3a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA1191 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA1191

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1191


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

Entrez Gene cytogenetic band: 5q35.2   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35.2

KIAA1191 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1191 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M175773:  view genomic region     (about GC identifiers)

Start:
175,773,064 bp from pter      End:
175,788,971 bp from pter
Size:
15,908 bases      Orientation:
minus strand

(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: P33MX_HUMAN, Q96A73 (See protein sequence)
Recommended Name: Putative monooxygenase p33MONOX  
Size: 305 amino acids; 33247 Da
Subunit: Interacts with COBRA1, NOL12 and PRNP
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: B2RD69 B8K1S6 Q6IA24 Q8NDU3 Q9BRE5 Q9H7D5 Q9ULM9
Alternative splicing: 3 isoforms:  Q96A73-1   Q96A73-2   Q96A73-3   

Explore the universe of human proteins at neXtProt for KIAA1191: NX_Q96A73

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96A73

  • KIAA1191 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001073152.1  NP_001073153.1  NP_065177.2  

    ENSEMBL proteins: 
     ENSP00000298569   ENSP00000377326   ENSP00000421061   ENSP00000433506   ENSP00000421746  
     ENSP00000423741   ENSP00000424906  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm ISS--


    KIAA1191 for ontologies           About GeneDecksing



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

    KIAA1191 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026759 P33MONOX

    Graphical View of Domain Structure for InterPro Entry Q96A73

    ProtoNet protein and cluster: Q96A73

    UniProtKB/Swiss-Prot: P33MX_HUMAN, Q96A73
    Similarity: Belongs to the P33MONOX family


    (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: P33MX_HUMAN, Q96A73
    Function: Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival,
    differentiation and axonal outgrowth

    Enzyme Number (IUBMB): EC 1.-.-.-1

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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:0003674molecular_function ND--
    GO:0016491oxidoreductase activity IEA--


    KIAA1191 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for KIAA1191:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1191

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

    5/7 Interacting proteins for KIAA1191 (Q96A731, 2, 3 ENSP000002985694) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3BP498412, 3MINT-8257372 I2D: score=2 
    PRNPP041561, 3EBI-725897,EBI-977302 I2D: score=1 
    SNCAP378403, ENSP000003383454I2D: score=1 STRING: ENSP00000338345
    NOL12Q9UGY13I2D: score=3 
    CACNA1AO005553I2D: score=1 
    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:0008150biological_process ND--


    KIAA1191 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIAA1191
    Search CenterWatch for drugs/clinical trials and news about KIAA1191 / P33MX 

    (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 KIAA1191 gene (3 alternative transcripts): 
    NM_001079684.1  NM_001079685.1  NM_020444.3  

    Unigene Cluster for KIAA1191:

    KIAA1191
    Hs.743257  [show with all ESTs]
    Unigene Representative Sequence: BX648859
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298569(uc003mdw.3 uc003mdx.3 uc003mdy.3 uc003mea.3 uc003mdz.3)
    ENST00000393728 ENST00000393725 ENST00000510164 ENST00000533553 ENST00000506983
    ENST00000503082 ENST00000504688 ENST00000506668 ENST00000508023 ENST00000506613


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    hsa-miR-3685 hsa-miR-539 hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-766 hsa-miR-373* hsa-miR-3692
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    Additional cDNA sequence: 

    AB033017.1 AK315428.1 AL390217.1 BC006316.2 BC010448.1 BC012848.1 BC017097.1 BX648859.1 
    CR457331.1 DQ073392.1 

    24/25 DOTS entries (see all 25):

    DT.100710904  DT.92000698  DT.100827620  DT.100834570  DT.91964047  DT.455871  DT.120886643  DT.95270113 
    DT.100827614  DT.100827625  DT.102843221  DT.102843222  DT.100783959  DT.120886666  DT.92472987  DT.95270114 
    DT.100827611  DT.304607  DT.95270112  DT.95270131  DT.100783961  DT.120886540  DT.86851858  DT.92473015 

    24/390 AceView cDNA sequences (see all 390):

    AI589660 BE881090 AI878895 CB123540 AA553894 BC012848 BU171535 AA563597 
    BM547296 BM468029 BE786685 BG680901 BC006316 BG109185 BX648859 BE783604 
    NM_020444 BM975821 BM013894 CA396654 BX951658 CF551964 BQ940727 AA134352 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1191 (see all 18)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e
    SP1:                                      -           -                 -     -           -                                                               
    SP2:                                                                    -     -           -                                                               
    SP3:                                                                                      -                                                               
    SP4:                                      -     -     -     -     -     -     -     -     -                                                               
    SP5:                                      -     -     -                 -     -           -                                                               


    ECgene alternative splicing isoforms for KIAA1191

    (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

    KIAA1191 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAAGCCAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KIAA1191 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1191

    SOURCE GeneReport for Unigene cluster: Hs.743257

    UniProtKB/Swiss-Prot: P33MX_HUMAN, Q96A73
    Tissue specificity: Down-regulated in the occipital lobe of an early stage Alzheimer's disease patients

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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 chordates.

    Orthologs for KIAA1191 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4833439L19Rik1 , 5 RIKEN cDNA 4833439L19 gene1, 5 84.71(n)1
    81.19(a)1
      13 (28.79 cM)5
    978201  NM_133797.41  NP_598558.11 
     545512185 
    chicken
    (Gallus gallus)
    Aves P33MONOX1 KIAA1191 72.56(n)
    69.96(a)
      416230  NM_001030610.1  NP_001025781.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA11916
    --
    67(a)
    1 ↔ 1
    GL343548.1(363456-372075)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD326906.12   -- 75.41(n)    CD326906.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1231051 zgc:123105 63.96(n)
    59.12(a)
      664766  NM_001039994.2  NP_001035083.2 


    ENSEMBL Gene Tree for KIAA1191 (if available)
    TreeFam Gene Tree for KIAA1191 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA1191 gene

    KIAA1191 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for KIAA1191 (see all 6)
    PGOHUM00000242877 PGOHUM00000249133 PGOHUM00000244473 PGOHUM00000245682 PGOHUM00000233511


    (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

    10/281 NCBI SNPs in KIAA1191 are shown (see all 281    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1425344411,2
    --175772834(+) GAGACA/GTTCAT 4 -- ut31 int10--------
    rs34201,2
    C,F,H,--175772906(-) CCTATT/CCATTA 4 -- ut31 int122Minor allele frequency- C:0.14EA NA MN NS WA 4142
    rs1896989231,2
    --175772913(+) TAGGGC/GGTAGA 4 -- int1 ut310--------
    rs4284941,2
    C,F,A,H,--175773021(+) GTGGGC/TAGAGT 4 -- int126Minor allele frequency- T:0.28MN EA NS NA WA CSA 4008
    rs111241,2
    C,H,--175773162(+) GCCTCT/CCTATG 4 -- ut31 int1 ese32Minor allele frequency- C:0.01NS NA 102
    rs1509315141,2
    --175773180(+) CAGCTG/TCTTAT 4 -- ut31 int10--------
    rs94271,2
    C--175773208(+) CAAAAA/CAAAAA 4 -- ut31 int10--------
    rs756311931,2
    C--175773251(+) GTGAAC/GTTGTA 4 -- ut31 int10--------
    rs788656561,2
    C--175773252(+) TGAACA/TTGTAC 4 -- ut31 int10--------
    rs4097441,2
    C,F,A,H,--175773287(-) AATACG/AGAAGC 4 -- int1 ut31 ese328Minor allele frequency- A:0.29EA NA NS WA CSA 3989

    HapMap Linkage Disequilibrium report for KIAA1191 (175773064 - 175788971 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KIAA1191
         1 CNV: 99369

    SABiosciences Cancer Mutation PCR Assays
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    (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

    KIAA1191 for disorders           About GeneDecksing

    4 diseases for KIAA1191:    About MalaCards
    macular degeneration    alzheimer's disease    ataxia    neuronitis


    Export disorders for KIAA1191 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)
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    PubMed articles for KIAA1191 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with KIAA1191)
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    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (1999)
    2. Characterizing the novel protein p33MONOX. (PubMed id 21153684)1, 2 Mishra M....Heese K. (2011)
    3. Brain site-specific gene expression analysis in Alzheimer's disease patients. (PubMed id 17032350)1, 2 Yokota T....Heese K. (2006)
    4. Isolation and characterization of novel CAG repeat containing genes expressed in human brain. (PubMed id 10565538)1, 3 Zuehlke C.... Schwinger E. (1999)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (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. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
    9. Protein microarray analysis identifies human cellular prion protein interactors. (PubMed id 18482256)1 Satoh J....Tabunoki H. (2009)
    10. Protein array analysis of oligomerization-induced changes in alpha-synuclein protein-protein interactions points to an interference with Cdc42 effector proteins. (PubMed id 18541383)1 Schnack C....Gillardon F. (2008)

    (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)
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    Entrez Gene: 57179 HGNC: 29209 AceView: KIAA1191 Ensembl:ENSG00000122203 euGenes: HUgn57179
    ECgene: KIAA1191 H-InvDB: KIAA1191

    (According to HUGE)
    About This Section
    HUGE: KIAA1191

    (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 KIAA1191 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 KIAA1191 gene:
    Search GeneIP for patents involving KIAA1191

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



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