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

KIAA1239 Gene

protein-coding   GIFtS: 38
GCID: GC04P037250

KIAA1239
  Search for KIAA1239
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KIAA1239    

Aliases
for KIAA1239 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
KIAA12391 2
Leucine-Rich Repeat And WD Repeat-Containing Protein KIAA12392

External Ids:    HGNC: 292291   Entrez Gene: 574952   Ensembl: ENSG000001741457   UniProtKB: Q9ULI13   

Export aliases for KIAA1239 gene to outside databases

Previous GC identifers: GC04P037426 GC04P037609 GC04P037279 GC04P037254 GC04P036923 GC04P036570


Summaries
for KIAA1239 gene

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

Genomic Views
for KIAA1239 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_000004.11  NC_018915.1  NT_016297.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1239 gene promoter:
         ER-alpha   Pax-2   STAT5A   Pax-2a   FOXC1   FOXO1a   IRF-7A   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1239

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1239


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

Entrez Gene cytogenetic band: 4p14   Ensembl cytogenetic band:  4p14   HGNC cytogenetic band: 4p14

KIAA1239 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1239 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P037250:  view genomic region     (about GC identifiers)

Start:
 37,245,842 bp from pter      End:
 37,451,087 bp from pter
Size:
 205,246 bases      Orientation:
 plus strand

Proteins
for KIAA1239 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: K1239_HUMAN, Q9ULI1 (See protein sequence)
Recommended Name: Leucine-rich repeat and WD repeat-containing protein KIAA1239  
Size: 1742 amino acids; 197466 Da
Secondary accessions: A8MRU1

Explore the universe of human proteins at neXtProt for KIAA1239: NX_Q9ULI1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULI1

    • KIAA1239 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001138462.1  
    ENSEMBL proteins: 
     ENSP00000309501  

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    Protein Domains /
    Families
    for KIAA1239 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KIAA1239 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9ULI1

    ProtoNet protein and cluster: Q9ULI1

    1 Blocks protein family: IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

    UniProtKB/Swiss-Prot: K1239_HUMAN, Q9ULI1
    Similarity: Contains 5 LRR (leucine-rich) repeats
    Similarity: Contains 11 WD repeats


    Function
    for KIAA1239 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
    miRNA
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    1 GenomeRNAi human phenotype for KIAA1239:
     Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for KIAA1239 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1239

    Drugs & Compounds
    for KIAA1239 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 Small Molecules at EMD Millipore
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    Browse Tocris compounds for KIAA1239
    Search CenterWatch for drugs/clinical trials and news about KIAA1239 / K1239 

    Transcripts
    for KIAA1239 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,
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    About This Section
    REFSEQ mRNAs for KIAA1239 gene: 
    NM_001144990.1  

    Unigene Cluster for KIAA1239:

    KIAA1239
    Hs.4280  [show with all ESTs]
    Unigene Representative Sequence: NM_001144990
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000309447(uc011bxz.2)

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    hsa-miR-411* hsa-miR-579 hsa-miR-3607-3p hsa-miR-379* hsa-miR-3664-5p hsa-miR-485-3p hsa-miR-1258 hsa-miR-938
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    Inhib. RNA
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    Additional cDNA sequence: AB033065.2 

    4 DOTS entries:

    DT.412441  DT.75174074  DT.121227895  DT.121227902 

    22 AceView cDNA sequences:

    AB033065 Z45380 Z42604 F02114 AA631675 BM311576 Z41096 T10248 
    C15315 D60826 T23841 BM310988 AL037517 AL037481 R19208 R40516 
    D61309 R13086 C14950 R44470 D60378 T10249 

    GeneLoc Exon Structure


    Expression
    for KIAA1239 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

    KIAA1239 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCACACATTT

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

    KIAA1239 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainEpithalamusBrain
    BrainMedulla OblongataBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KIAA1239 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1239

    SOURCE GeneReport for Unigene cluster: Hs.4280
        SABiosciences Custom PCR Arrays for KIAA1239
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    In Situ
    Assay Products:     
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    Orthologs
    for KIAA1239 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KIAA1239 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KIAA12391 KIAA1239 78.47(n)
    85.49(a)    		   428789  XM_426345.3  XP_426345.3 
    lizard
    (Anolis carolinensis)    		 Reptilia KIAA12396
    		 --
    		 83(a)
    		 1 ↔ 1
    		 GL343361.1(856939-895245)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.263942 Xenopus laevis transcribed sequences 75.77(n)    CD361159.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5623201 leucine-rich repeat and WD repeat-containing protein more 69.34(n)
    73.18(a)    		   562320  XM_685709.4  XP_690801.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG101851 CG10185 43.93(n)
    30.33(a)    		   41953  NM_142264.1  NP_650521.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea qui-16
    		 QUInine non-avoider family member (qui-1)
    		 14(a)
    		 possible ortholog
    		 IV(13561849-13574395)


    ENSEMBL Gene Tree for KIAA1239 (if available)
    TreeFam Gene Tree for KIAA1239 (if available) 

    Paralogs
    for KIAA1239 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA1239 gene
    NWD12  

    KIAA1239 for paralogs           About GeneDecksing



    Genomic Variants
    for KIAA1239 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KIAA1239
         1 CNV: 98677
         1 Indel: 68701
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for KIAA1239 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
    KIAA1239 for disorders           About MalaCards

    KIAA1239 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: KIAA1239 (1 document)

    Export disorders for KIAA1239 gene to outside databases

    Publications
    for KIAA1239 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 KIAA1239 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KIAA1239)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)2 Nakajima D.... Nagase T. (2002)
    5. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)

    External Searches for KIAA1239 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 KIAA1239 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57495 HGNC: 29229 AceView: KIAA1239 Ensembl:ENSG00000174145 euGenes: HUgn57495
    ECgene: KIAA1239 H-InvDB: KIAA1239

    Other Databases showing KIAA1239 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1239

    Specialized Databases showing KIAA1239 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 KIAA1239 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KIAA1239 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KIAA1239 gene:
    Search GeneIP for patents involving KIAA1239

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



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    About This Section

     
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