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

KIAA1009 Gene

protein-coding   GIFtS: 46
GCID: GC06M084891

KIAA1009

(Previous name: chromosome 6 open reading frame 84)
(Previous symbol: C6orf84)
  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
KIAA10091 2     QN12 3
C6orf841 2 3     Chromosome 6 Open Reading Frame 841
Protein QN1 Homolog2 3     Centrosomal Protein Of 162 KDa2
CEP1622 3     Cep1623

External Ids:    HGNC: 211071   Entrez Gene: 228322   Ensembl: ENSG000001353157   OMIM: 6102015   UniProtKB: Q5TB803   

Export aliases for KIAA1009 gene to outside databases

Previous GC identifers: GC06M084780 GC06M082063


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

GeneCards Summary for KIAA1009 Gene: 
KIAA1009 (KIAA1009) is a protein-coding gene. Diseases associated with KIAA1009 include infective endocarditis, and endocarditis.

UniProtKB/Swiss-Prot: CE162_HUMAN, Q5TB80
Function: Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing
and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly
binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the
cilia base. Required to mediate CEP290 association with microtubules




(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_000006.11  NT_007299.13  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1009 gene promoter:
         AML1a   FOXD1   LCR-F1   C/EBPalpha   MEF-2A   POU2F1   FOXJ2 (long isoform)   POU2F1a   aMEF-2   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA1009 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA1009

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1009


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

Entrez Gene cytogenetic band: 6q14.3   Ensembl cytogenetic band:  6q14.3   HGNC cytogenetic band: 6q14.3

KIAA1009 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1009 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M084891:  view genomic region     (about GC identifiers)

Start:
84,833,960 bp from pter      End:
84,937,353 bp from pter
Size:
103,394 bases      Orientation:
minus 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: CE162_HUMAN, Q5TB80 (See protein sequence)
Recommended Name: Centrosomal protein of 162 kDa  
Size: 1403 amino acids; 161943 Da
Subunit: Interacts with alpha-tubulin (By similarity). Interacts with CEP290
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm,
cytoskeleton, spindle. Nucleus. Note=Localizes to the distal end of centrioles throughout the cell cycle. During
ciliogenesis, found at the cilia base. Localizes to spindle microtubules during mitosis
Miscellaneous: Promotes ectopic assembly of transition zone components at cilia tips when targeted outside distal
ends of centrioles, generating extra-long cilia with strikingly swollen tips (PubMed:23644468)
Caution: Was initially thought to regulate chromosome segregation and mitotic spindle assembly (PubMed:16302001).
However, it was later shown that its absence neither affect mitosis nor centriole duplication (PubMed:23644468)
Sequence caution: Sequence=BAA76853.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6PVL7 A6PVL8 Q6P475 Q9Y2L2
Alternative splicing: 2 isoforms:  Q5TB80-1   Q5TB80-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1009: NX_Q5TB80

Explore proteomics data for KIAA1009 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5TB80

  • KIAA1009 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1009 Protein Expression
    REFSEQ proteins: NP_055710.2  
    ENSEMBL proteins: 
     ENSP00000257766   ENSP00000385215   ENSP00000410813  

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    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--

    KIAA1009 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q5TB80

    UniProtKB/Swiss-Prot: CE162_HUMAN, Q5TB80
    Similarity: Belongs to the CEP162 family


    (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: CE162_HUMAN, Q5TB80
    Function: Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing
    and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly
    binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the
    cilia base. Required to mediate CEP290 association with microtubules

         Genatlas biochemistry entry for KIAA1009:
    related to quail neuronal cell cycle withdrawal protein

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    KIAA1009 for ontologies           About GeneDecksing


    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 KIAA1009

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for KIAA1009 (Q5TB803 ENSP000003852154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YEATS4O956193, ENSP000002478434I2D: score=1 STRING: ENSP00000247843
    LXNQ9BS403, ENSP000002642654I2D: score=2 STRING: ENSP00000264265
    CPNE4Q96A233I2D: score=1 
    --ENSP000003506494STRING: ENSP00000350649
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042384cilium assembly IMP--

    KIAA1009 for ontologies           About GeneDecksing



    (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 KIAA1009 (CE162)

    Search CenterWatch for drugs/clinical trials and news about KIAA1009 / CE162

    (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 KIAA1009 gene: 
    NM_014895.2  

    Unigene Cluster for KIAA1009:

    KIAA1009
    Hs.485865  [show with all ESTs]
    Unigene Representative Sequence: NM_014895
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461137 ENST00000257766(uc003pki.4 uc003pkj.4) ENST00000403245(uc010kbp.3 uc003pkk.2)
    ENST00000487999 ENST00000497936 ENST00000435955
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    Additional mRNA sequence: 

    AB023226.1 AK023613.1 AK308190.1 BC127206.1 BC127207.1 

    6 DOTS entries:

    DT.452599  DT.99967385  DT.121334581  DT.99977045  DT.40202924  DT.101978881 

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

    AA431701 AA988550 BU677375 BX280084 Z43299 AA938917 BU608630 CA428990 
    BI825870 BX483150 AI474053 AI147106 AW592426 CB215854 BP377633 BU622745 
    BG620341 BC063632 AB023226 Z39374 BX480748 AA953896 CA429366 AK023613 

    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

    KIAA1009 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAAAGAGA
    KIAA1009 Expression
    About this image


    See KIAA1009 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1009

    SOURCE GeneReport for Unigene cluster: Hs.485865
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    In Situ
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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 animals.

    Orthologs for KIAA1009 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4922501C03Rik1 , 5 RIKEN cDNA 4922501C03 gene1, 5 81.24(n)1
    75.95(a)1
      9 (46.78 cM)5
    3820901  NM_199316.21  NP_955020.21 
     871895735 
    chicken
    (Gallus gallus)
    Aves KIAA10091 KIAA1009 63.24(n)
    50.97(a)
      421835  XM_419856.3  XP_419856.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA10096
    Uncharacterized protein
    50(a)
    1 ↔ 1
    1(197159026-197216138)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.187472 Transcribed sequence with weak similarity to protein more 73.45(n)    BX769321.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5620351 protein QN1 homolog 50.88(n)
    41.43(a)
      562035  XM_685430.2  XP_690522.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426996
    --
    18(a)
    1 ↔ 1
    X(5658608-5683609)


    ENSEMBL Gene Tree for KIAA1009 (if available)
    TreeFam Gene Tree for KIAA1009 (if available)

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

    (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

    10/2162 SNPs in KIAA1009 are shown (see all 2162)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1463642181,2
    --84833525(+) AAATAC/TATGCA 1 -- int10--------
    rs766789661,2
    C,F--84833531(+) ATGCAA/GGTTAT 1 -- int11Minor allele frequency- G:0.08WA 118
    rs1384468461,2
    --84833673(+) AAACAC/TGTGAA 1 -- int10--------
    rs1920328231,2
    --84833742(+) TTATAC/TCAGTC 1 -- int10--------
    rs1428399291,2
    --84833954(+) AAATCA/GTTATA 1 -- int10--------
    rs1162723801,2
    F--84833989(+) GTTTAT/CTGCAG 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs787415491,2
    C,F--84834040(+) TCTACC/GAACAA 1 -- ut313Minor allele frequency- G:0.17WA CSA 122
    rs752998611,2
    C,F--84834079(+) ATATAG/TAGAGA 1 -- ut313Minor allele frequency- T:0.19WA CSA 122
    rs1461004601,2
    --84834101(+) GGAGTA/GTTATG 1 -- ut310--------
    rs2018292071,2
    C--84834193(+) GACAT-/AAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA1009 (84833960 - 84937353 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KIAA1009:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2732368CNV Deletion23290073
    esv2657841CNV Deletion23128226
    nsv5379CNV Insertion18451855
    nsv519202CNV Loss19592680

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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
    OMIM gene information: 610201    OMIM disorders: --

    3 diseases for KIAA1009:    About MalaCards
    infective endocarditis    endocarditis    neuronitis


    KIAA1009 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1009

    Export disorders for KIAA1009 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 KIAA1009 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with KIAA1009)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base. (PubMed id 23644468)1, 2 Wang W.J.... Bryan Tsou M.F. (2013)
    2. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (2007)
    3. QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly. (PubMed id 16302001)1, 2 Leon A.... Crisanti P. (2006)
    4. Expression, cellular distribution and protein binding of the glioma amplified sequence (GAS41), a highly conserved putative transcription factor. (PubMed id 11521196)1, 2 Munnia A.... Meese E. (2001)
    5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    6. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    7. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (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: 22832 HGNC: 21107 AceView: C6orf84 Ensembl:ENSG00000135315 euGenes: HUgn22832
    ECgene: KIAA1009 H-InvDB: KIAA1009

    (According to HUGE)
    About This Section
    HUGE: KIAA1009

    (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 KIAA1009 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 KIAA1009 gene:
    Search GeneIP for patents involving KIAA1009

    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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    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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