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

KIAA1731 Gene

protein-coding   GIFtS: 42
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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KIAA1731

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: K1731_HUMAN, Q9C0D2 (See protein sequence)
Recommended Name: Centrosomal protein KIAA1731  
Size: 2601 amino acids; 295176 Da
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with
centriolar acetylated tubulin
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9C0D2

  • KIAA1731 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1731 Protein Expression
    REFSEQ proteins: NP_203753.1  
    ENSEMBL proteins: 
     ENSP00000316681   ENSP00000433794   ENSP00000437323   ENSP00000431853   ENSP00000433650  
     ENSP00000433198   ENSP00000406505   ENSP00000341318  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    KIAA1731 for ontologies           About GeneDecksing



    KIAA1731 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026615 KIAA1731

    Graphical View of Domain Structure for InterPro Entry Q9C0D2

    ProtoNet protein and cluster: Q9C0D2


    KIAA1731 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

    Molecular Function:

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

    Animal Models:

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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 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 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 KIAA1731 (K1731)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
    miRNA
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    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 

    24/69 AceView cDNA sequences (see all 69):

    AW805761 AK095218 AK057804 CB150534 BQ933718 AA436845 R54727 BG943685 
    CB145916 AK095859 AB051518 AJ009638 AW337911 BX103619 AA191071 BE538374 
    BG570424 AI627965 AA442603 BU155237 BP872343 BC017394 BU678167 W79020 

    GeneLoc Exon Structure

    5/8 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™, 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

    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


    See KIAA1731 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1731

    SOURCE GeneReport for Unigene cluster: Hs.458418
        SABiosciences Custom PCR Arrays for KIAA1731
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1731

    (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 KIAA1731 gene from 4/10 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 74.72(n)1
    62.99(a)1
      9 (4.79 cM)5
    3196751  NM_176976.41  NP_795950.21 
     153169155 
    chicken
    (Gallus gallus)
    Aves KIAA17316
    KIAA1731
    55(a)
    1 ↔ 1
    1(185103362-185107655)
    lizard
    (Anolis carolinensis)
    Reptilia KIAA17316
    Uncharacterized protein
    39(a)
    1 ↔ 1
    3(196147747-196172928)
    zebrafish
    (Danio rerio)
    Actinopterygii --
    --
    39(a)
    1 → many
    15(118500-120455)


    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)
    About This Section
    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) 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

    10/1379 SNPs in KIAA1731 are shown (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

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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 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)
    About This Section

    PubMed articles for KIAA1731 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with KIAA1731)
        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. Centriolar association of ALMS1 and likely centrosoma l functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. (PubMed id 20844083)1, 2 Knorz V.J....Hearn T. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2000)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (2007)
    10. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)

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

    (According to HUGE)
    About This Section
    HUGE: KIAA1731

    (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 KIAA1731 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 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, 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
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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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