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

KIAA1468 Gene

protein-coding   GIFtS: 47
GCID: GC18P059861

KIAA1468

  See related diseases
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
KIAA14681 2
HsT33082
HsT8852
LisH Domain And HEAT Repeat-Containing Protein KIAA14682
EC 2.4.2.188
EC 5.3.1.248

External Ids:    HGNC: 292891   Entrez Gene: 576142   Ensembl: ENSG000001344447   UniProtKB: Q9P2603   

Export aliases for KIAA1468 gene to outside databases

Previous GC identifers: GC18P059726 GC18P058037 GC18P058005 GC18P056565


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

GeneCards Summary for KIAA1468 Gene: 
KIAA1468 (KIAA1468) is a protein-coding gene. Diseases associated with KIAA1468 include chronic recurrent multifocal osteomyelitis, and osteomyelitis.


(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_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1468 gene promoter:
         USF1   POU3F1   Olf-1   Nkx2-5   NF-kappaB   POU2F1   POU2F1a   NF-kappaB2   USF-1   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1468

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1468


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

Entrez Gene cytogenetic band: 18q21.33   Ensembl cytogenetic band:  18q21.33   HGNC cytogenetic band: 18q21.33

KIAA1468 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1468 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P059861:  view genomic region     (about GC identifiers)

Start:
59,854,491 bp from pter      End:
59,974,355 bp from pter
Size:
119,865 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: K1468_HUMAN, Q9P260 (See protein sequence)
Recommended Name: LisH domain and HEAT repeat-containing protein KIAA1468  
Size: 1216 amino acids; 134630 Da
Alternative splicing: 2 isoforms:  Q9P260-1   Q9P260-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1468: NX_Q9P260

Explore proteomics data for KIAA1468 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P260

  • 2 DME Specific Peptides for KIAA1468 (Q9P260)
     VGPTRVE  VDVASGVE 

    KIAA1468 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1468 Protein Expression
    REFSEQ proteins: NP_065905.2  
    ENSEMBL proteins: 
     ENSP00000256858   ENSP00000381198   ENSP00000468816   ENSP00000464995  

    Human Recombinant Protein Products for KIAA1468: 
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    Browse Proteins at Cloud-Clone Corp. 


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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR021133 HEAT_type_2
     IPR016024 ARM-type_fold
     IPR006594 LisH_dimerisation

    Graphical View of Domain Structure for InterPro Entry Q9P260

    ProtoNet protein and cluster: Q9P260

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: K1468_HUMAN, Q9P260
    Similarity: Contains 3 HEAT repeats
    Similarity: Contains 1 LisH domain


    KIAA1468 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 5.3.1.242 EC 2.4.2.182

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    KIAA1468 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KIAA1468:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA1468 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIAA1468 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKIAA1468 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 KIAA1468

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KIAA1468 (ENSP000003811984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 KIAA1468 (K1468)

    Search CenterWatch for drugs/clinical trials and news about KIAA1468 / K1468

    (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 KIAA1468 gene: 
    NM_020854.3  

    Unigene Cluster for KIAA1468:

    KIAA1468
    Hs.465323  [show with all ESTs]
    Unigene Representative Sequence: NM_020854
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256858(uc010xel.2 uc002lim.3) ENST00000398130(uc002lik.1 uc002lil.3)
    ENST00000587725 ENST00000590713 ENST00000592479 ENST00000591227 ENST00000588446
    ENST00000586920 ENST00000587764 ENST00000587198 ENST00000587714 ENST00000593217

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA1468 (see all 30):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-148b hsa-miR-624* hsa-miR-374a hsa-miR-301a hsa-miR-1297 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1468 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AK025228.1 AK091160.1 AK315400.1 BC011992.1 BX648481.1 

    7 DOTS entries:

    DT.91799396  DT.95140160  DT.416149  DT.100738739  DT.91976117  DT.92041400  DT.100023509 

    24/136 AceView cDNA sequences (see all 136):

    BP873077 BM692461 CB160116 BU608724 BU150470 CA431586 BQ022228 CA975894 
    AI697837 AX746817 AA491114 CB160223 BM996436 BC011992 F09701 N35330 
    BF475612 AA426182 AW629301 AL044816 CD722738 BF055274 AI990627 AI688222 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1468    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:                                                                                -                                                                       -   
    SP2:                                                                                -                                                                           
    SP3:                                                                                -                                                           -           -   
    SP4:                                                                                                                                                            

    ExUns: 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:              -     -                                             
    SP2:              -           -                                       
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for KIAA1468

    (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

    KIAA1468 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAAAATGT
    KIAA1468 Expression
    About this image


    See KIAA1468 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1468

    SOURCE GeneReport for Unigene cluster: Hs.465323
        SABiosciences Custom PCR Arrays for KIAA1468
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    In Situ
    Assay Products:
     

     
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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 eukaryotes.

    Orthologs for KIAA1468 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2310035C23Rik1 , 5 RIKEN cDNA 2310035C23 gene1, 5 89.99(n)1
    93.26(a)1
      1 (49.64 cM)5
    2274461  NM_173187.31  NP_775279.21 
     1056638615 
    chicken
    (Gallus gallus)
    Aves KIAA14681 KIAA1468 80.58(n)
    85.69(a)
      420907  XM_418993.3  XP_418993.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14686
    Uncharacterized protein
    86(a)
    1 ↔ 1
    GL343265.1(503318-559516)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480569202   -- 81.75(n)    48056920 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660142 hypothetical protein MGC66014 78.36(n)   393817  BC061956.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G162101 HEAT repeat-containing protein 43.13(n)
    30.81(a)
      831480  NM_121626.3  NP_197125.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g05143001 hypothetical protein 42.62(n)
    29.46(a)
      4323992  NM_001049723.1  NP_001043188.1 


    ENSEMBL Gene Tree for KIAA1468 (if available)
    TreeFam Gene Tree for KIAA1468 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA1468 gene

    KIAA1468 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KIAA1468
    PGOHUM00000232969


    (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

    10/2156 SNPs in KIAA1468 are shown (see all 2156)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0376604
    A colorectal cancer sample4--see VAR_0376602 G E mis40--------
    rs1503049021,2
    --59856419(+) CTCATG/TGCTGA 1 -- int10--------
    rs1379026871,2
    --59856474(+) TGTGTG/TGTGGT 1 -- int10--------
    rs1997003911,2
    C--59856482(+) GGTGGG/TTCTTT 1 -- int10--------
    rs1906719761,2
    C--59856489(+) CTTTTC/TTTGTT 1 -- int10--------
    rs1134629741,2
    C--59856502(+) TTTTTG/TTTGTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1491790891,2
    C--59856505(+) TTTTT-/GTTG  
            
    TTTTT
    1 -- int10--------
    rs2005081951,2
    C--59856508(+) TTTTT-/TGGTTT 1 -- int10--------
    rs1832853401,2
    --59856620(+) AGGCTA/TAGGTA 1 -- int10--------
    rs734566081,2
    C,F--59856749(+) TTATAA/GTAAAT 1 -- int16Minor allele frequency- G:0.12WA CSA NA EA 364

    HapMap Linkage Disequilibrium report for KIAA1468 (59854491 - 59974355 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA1468:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676512CNV Deletion23128226
    nsv819755CNV Loss19587683

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for KIAA1468:    About MalaCards
    chronic recurrent multifocal osteomyelitis    osteomyelitis


    KIAA1468 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1468
    Human Genome Epidemiology (HuGE) Navigator: KIAA1468 (1 document)

    Export disorders for KIAA1468 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 KIAA1468 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with KIAA1468)
        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. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. (PubMed id 11973628)1, 3 Golla A....Meindl A. (2002)
    3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
    4. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
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    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
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    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)
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    (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: 57614 HGNC: 29289 AceView: KIAA1468 Ensembl:ENSG00000134444 euGenes: HUgn57614
    ECgene: KIAA1468 H-InvDB: KIAA1468

    (According to HUGE)
    About This Section
    HUGE: KIAA1468

    (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 KIAA1468 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 KIAA1468 gene:
    Search GeneIP for patents involving KIAA1468

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



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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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