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

KIAA1239 Gene

protein-coding   GIFtS: 39
GCID: GC04P037250

KIAA1239

  Search for KIAA1239
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
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


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

GeneCards Summary for KIAA1239 Gene: 
KIAA1239 (KIAA1239) is a protein-coding gene. An important paralog of this gene is NWD1.


(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_000004.11  NC_018915.2  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

(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: 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

Explore proteomics data for KIAA1239 at MOPED 

Post-translational modifications:

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

  • KIAA1239 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1239 Protein Expression
    REFSEQ proteins: NP_001138462.1  
    ENSEMBL proteins: 
     ENSP00000309501  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR027417 P-loop_NTPase
     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 domain: 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


    KIAA1239 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KIAA1239 for ontologies           About GeneDecksing


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

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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 KIAA1239

    (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 KIAA1239 (K1239)

    Search CenterWatch for drugs/clinical trials and news about KIAA1239 / K1239

    (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,
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    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 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)
    miRNA
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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 mRNA sequence: AB033065.2 

    4 DOTS entries:

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

    22 AceView cDNA sequences:

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

    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

    KIAA1239 expression in normal human tissues (normalized intensities)      KIAA1239 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACACATTT
    KIAA1239 Expression
    About this image


    KIAA1239 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Epithalamus
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer

    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:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1239

    (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 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 3110047P20Rik1 , 5 RIKEN cDNA 3110047P20 gene1, 5 88.17(n)1
    94.78(a)1
      5 (32.80 cM)5
    3198071  NM_177006.31  NP_795980.21 
     636491035 
    chicken
    (Gallus gallus)
    Aves KIAA12391 KIAA1239 78.47(n)
    85.49(a)
      428789  XM_426345.3  XP_426345.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA12396
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343361.1(856939-944244)
    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 T05C3.26
    Protein T05C3.2
    22(a)
    1 → many
    V(5493747-5503010)


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

    (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



    (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

    10/4129 SNPs in KIAA1239 are shown (see all 4129)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs340872241,2
    C--36742186(+) AACAT-/C/    
       CAT
    /T
    ATGTT
    1 -- int12NA 4
    rs1161664151,2
    C,F--37245621(+) GGAGCT/GGTCAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1889878001,2
    --37245742(+) GACCAC/GGCGGC 1 -- us2k10--------
    rs562414171,2
    C,F--37245797(+) AAGCGC/AGCGTG 1 -- us2k13Minor allele frequency- A:0.18NA EA 242
    rs1929575861,2
    --37246032(+) TGTGAA/CCTTTA 1 -- us2k10--------
    rs1440174851,2
    --37246183(+) CCCGGA/CCGTCC 1 -- us2k10--------
    rs1853702081,2
    --37246188(+) CCGTCC/GTCTAA 1 -- us2k10--------
    rs1887944791,2
    --37246216(+) CGCCCA/GAGAGA 1 -- us2k10--------
    rs1464563931,2
    --37246289(+) CGCACA/GGTCCC 1 -- us2k10--------
    rs1917084841,2
    --37246340(+) GGGGAC/GATGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1239 (37245842 - 37451087 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for KIAA1239 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2727423CNV Deletion23290073
    esv2727426CNV Deletion23290073
    esv2727427CNV Deletion23290073
    dgv871e201CNV Deletion23290073
    esv2727417CNV Deletion23290073
    esv2445355CNV Deletion19546169
    dgv872e201CNV Deletion23290073
    esv2727428CNV Deletion23290073
    esv2727416CNV Deletion23290073
    esv1660515CNV Deletion17803354

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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

    KIAA1239 for disorders           About MalaCards

    KIAA1239 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1239
    Human Genome Epidemiology (HuGE) Navigator: KIAA1239 (1 document)

    Export disorders for KIAA1239 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 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, 4 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)

    (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)

    (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

    (According to HUGE)
    About This Section
    HUGE: KIAA1239

    (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

    (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



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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