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KIAA1731 Gene

protein-coding   GIFtS: 44
GCID: GC11P093396

KIAA1731

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KIAA17311 2
Centrosomal Protein KIAA17312

External Ids:    HGNC: 293661   Entrez Gene: 854592   Ensembl: ENSG000001660047   UniProtKB: Q9C0D23   

Export aliases for KIAA1731 gene to outside databases

Previous GC identifers: GC05U990162 GC11P094928 GC11P093605 GC11P093082 GC11P093083 GC11P093034 GC11P089472


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA1731 Gene:
KIAA1731 (KIAA1731) is a protein-coding gene. Diseases associated with KIAA1731 include schizophrenia. An important paralog of this gene is LOC100653515.

UniProtKB/Swiss-Prot: K1731_HUMAN, Q9C0D2
Function: May be involved in centriole formation or stability




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1731 gene promoter:
         Oct-B1   C/EBPbeta   oct-B2   Bach2   HNF-4alpha2   C/EBPalpha   HNF-4alpha1   FOXC1   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1731

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1731


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

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

KIAA1731 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1731 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P093396:  view genomic region     (about GC identifiers)

Start:
93,394,805 bp from pter      End:
93,463,522 bp from pter
Size:
68,718 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: K1731_HUMAN, Q9C0D2 (See protein sequence)
Recommended Name: Centrosomal protein KIAA1731  
Size: 2601 amino acids; 295176 Da
Sequence caution: Sequence=BAB21822.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB21822.2; Type=Frameshift; Positions=2016; Sequence=BAB71582.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAC04638.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: C9J5H9 C9JQY8 Q8N7L4 Q8N919 Q8N9B0 Q96LT8
Alternative splicing: 4 isoforms:  Q9C0D2-1   Q9C0D2-2   Q9C0D2-3   Q9C0D2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1731: NX_Q9C0D2

Explore proteomics data for KIAA1731 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys84, Lys292, Lys533, Lys859, Lys875, Lys951, Lys961, Lys1027, Lys1066, Lys1093,
                                 Lys1131, Lys1352, Lys1594, Lys1712, Lys2206
  • Modification sites at PhosphoSitePlus

  • See KIAA1731 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_203753.1  
    ENSEMBL proteins: 
     ENSP00000316681   ENSP00000433794   ENSP00000437323   ENSP00000431853   ENSP00000433650  
     ENSP00000433198   ENSP00000406505   ENSP00000341318  

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q9C0D2


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K1731_HUMAN, Q9C0D2
    Function: May be involved in centriole formation or stability

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA1731
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    miRNA
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    miRTarBase miRNAs that target KIAA1731:
    hsa-mir-192-5p (MIRT026912), hsa-mir-1 (MIRT024073)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    K1731_HUMAN, Q9C0D2: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with
    centriolar acetylated tubulin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005856cytoskeleton IDA--

    KIAA1731 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA1731
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1731

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for KIAA1731 (Q9C0D23 ENSP000003166814) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC1Q9NV703, ENSP000003265144I2D: score=2 STRING: ENSP00000326514
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIAA1731 (K1731)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIAA1731 gene: 
    NM_033395.1  

    Unigene Cluster for KIAA1731:

    KIAA1731
    Hs.458418  [show with all ESTs]
    Unigene Representative Sequence: NM_033395
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325212(uc009ywb.1) ENST00000531622 ENST00000531877 ENST00000531700(uc001pdu.1)
    ENST00000530425 ENST00000531404(uc001pdw.1) ENST00000529185 ENST00000411936(uc001pdx.1)
    ENST00000344196
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      QuantiFast Probe-based Assays in human, mouse, rat KIAA1731

    Additional mRNA sequence: 

    AB051518.2 AK057804.1 AK095218.1 AK095859.1 AK098232.1 BC015989.1 BC017394.1 

    13 DOTS entries:

    DT.70100314  DT.100028613  DT.86854061  DT.100746664  DT.95360435  DT.100028608  DT.95204168  DT.95360424 
    DT.97846568  DT.100746663  DT.95360426  DT.100721563  DT.120738195 

    Selected AceView cDNA sequences (see all 69):

    AW337911 AB051518 R54727 AW805761 BX103619 BQ933718 CB145916 AK057804 
    AK095218 AK095859 BG943685 AJ009638 AA436845 CB150534 AA159634 AI886266 
    AA402575 AA191570 BQ897973 AA442603 BX953920 BE538374 D20341 AA191071 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1731 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                    -                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for KIAA1731

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIAA1731 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGACTTTCT
    KIAA1731 Expression
    About this image

    KIAA1731 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1731 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.458418
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KIAA1731 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 5830418K08Rik1 , 5 RIKEN cDNA 5830418K08 gene1, 5 74.34(n)1
    62.5(a)1
      9 (4.79 cM)5
    3196751  NM_176976.41  NP_795950.21 
     153169155 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    54(a)
    1 → many
    1(185103362-185107655) ENSGALG00000022715
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    43(a)
    1 → many
    3(196147747-196172928)
    zebrafish
    (Danio rerio)
    Actinopterygii KIAA17316
    KIAA1731
    43(a)
    1 → many
    15(118500-120455) ENSDARG00000088160


    ENSEMBL Gene Tree for KIAA1731 (if available)
    TreeFam Gene Tree for KIAA1731 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1731 gene
    LOC1006535152  

    KIAA1731 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIAA1731 (see all 1379)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs110204681,2
    C,F,A,H--93392838(+) ATCTCC/TGTGCC 1 -- us2k115Minor allele frequency- T:0.09NS EA NA WA 1828
    rs1887431971,2
    --93392839(+) TCTCCA/GTGCCT 1 -- us2k10--------
    rs1921326111,2
    --93392951(+) GGGAAC/GGAAAC 1 -- us2k10--------
    rs1846076721,2
    --93392979(+) TTCACC/TCTTGA 1 -- us2k10--------
    rs1899286431,2
    --93393056(+) AGGTGA/GAATCA 1 -- us2k10--------
    rs79394601,2
    C,F,A,H--93393196(+) GCTAGC/G/TGTTTG 1 -- us2k1109NS EA PA EU CA WA NA 6812
    rs110204691,2
    C,F,A,H--93393213(+) CTCATG/ATAACA 1 -- us2k18Minor allele frequency- A:0.07NS EA NA WA 650
    rs1385403241,2
    --93393267(+) CTACCA/GATGTA 1 -- us2k10--------
    rs1813664821,2
    --93393289(+) ACAGTA/GCATCA 1 -- us2k10--------
    rs1860534871,2
    --93393293(+) TACATC/TACTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1731 (93394805 - 93463522 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for KIAA1731:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv441CNV Insertion18451855
    nsv898173CNV Loss21882294
    nsv525639CNV Loss19592680
    nsv527168CNV Loss19592680
    nsv832232CNV Gain17160897
    nsv819292CNV Gain19587683
    nsv898182CNV Gain21882294
    nsv898181CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1731
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1731

    (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.)
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    1 disease for KIAA1731:    
    About MalaCards
    schizophrenia


    KIAA1731 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1731
    Human Genome Epidemiology (HuGE) Navigator: KIAA1731 (1 document)

    Export disorders for KIAA1731 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 KIAA1731 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with KIAA1731)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. (PubMed id 20844083)1, 2, 3 Knorz V.J.... Hearn T. (Mol. Biol. Cell 2010)
    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. (Mol. Med. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (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: 85459 HGNC: 29366 AceView: KIAA1731 Ensembl:ENSG00000166004 euGenes: HUgn85459
    ECgene: KIAA1731 H-InvDB: KIAA1731

    (According to HUGE)
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    HUGE: KIAA1731

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIAA1731 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIAA1731 gene:
    Search GeneIP for patents involving KIAA1731

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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