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KIAA0586 Gene

protein-coding   GIFtS: 47
GCID: GC14P058894

KIAA0586

  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)
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Aliases
KIAA05861 2
TALPID33 5
Talpid32
Ortholog Of Chicken Talpid{3}2
Protein TALPID32

External Ids:    HGNC: 199601   Entrez Gene: 97862   Ensembl: ENSG000001005787   OMIM: 6101785   UniProtKB: Q9BVV63   

Export aliases for KIAA0586 gene to outside databases

Previous GC identifers: GC14P056218 GC14P052690 GC14P056884 GC14P057963 GC14P039059


(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 KIAA0586 Gene:
KIAA0586 (KIAA0586) is a protein-coding gene. Diseases associated with KIAA0586 include cystic kidney, and brachydactyly.

UniProtKB/Swiss-Prot: TALD3_HUMAN, Q9BVV6
Function: Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)




(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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0586 gene promoter:
         Pax-6   Pax-2   Pax-2a   Ik-3   Evi-1   HNF-1A   IRF-2   HNF-1   FOXO4   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA0586

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0586


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

Entrez Gene cytogenetic band: 14q23.1   Ensembl cytogenetic band:  14q23.1   HGNC cytogenetic band: 14q23.1

KIAA0586 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0586 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P058894:  view genomic region     (about GC identifiers)

Start:
58,894,103 bp from pter      End:
59,015,549 bp from pter
Size:
121,447 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: TALD3_HUMAN, Q9BVV6 (See protein sequence)
Recommended Name: Protein TALPID3  
Size: 1533 amino acids; 169307 Da
Sequence caution: Sequence=BAA25512.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DZB6 E7EWM8 J3KQH9 O60328 Q6NYC6 Q6UV20
Alternative splicing: 4 isoforms:  Q9BVV6-1   Q9BVV6-2   Q9BVV6-3   Q9BVV6-4   (No experimental confirmation available. Ref.3 (BAG64028) sequence is in conflict in position: 1568:L->P)

Explore the universe of human proteins at neXtProt for KIAA0586: NX_Q9BVV6

Explore proteomics data for KIAA0586 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys380, Lys688
  • Modification sites at PhosphoSitePlus

  • See KIAA0586 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001231118.1  NP_001231119.1  NP_001231120.1  NP_001231121.1  NP_001231122.1  NP_055564.3  

    ENSEMBL proteins: 
     ENSP00000346359   ENSP00000452351   ENSP00000399427   ENSP00000452536   ENSP00000451831  
     ENSP00000450855   ENSP00000261244   ENSP00000451356  

    KIAA0586 Human Recombinant Protein Products:

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    (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: Q9BVV6

    UniProtKB/Swiss-Prot: TALD3_HUMAN, Q9BVV6
    Similarity: Belongs to the TALPID3 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,
    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: TALD3_HUMAN, Q9BVV6
    Function: Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

    Phenotypes:
         2 GenomeRNAi human phenotypes for KIAA0586:

     Increased G2M DNA content  Increased cell size 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for 2700049A03Rik):
     cardiovascular system  cellular  craniofacial  embryogenesis  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  skeleton 

    KIAA0586 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out 2700049A03Riktm1.2Arte for KIAA0586

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA0586
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    miRNA
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    miRTarBase miRNAs that target KIAA0586:
    hsa-mir-877-3p (MIRT036916)

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    4 qRT-PCR Assays for microRNAs that regulate KIAA0586:
    hsa-miR-3119 hsa-miR-3662 hsa-miR-590-3p hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0586 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0586


    (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
    TALD3_HUMAN, Q9BVV6: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA19144723

    KIAA0586 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 KIAA0586
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0586

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

    1 Interacting protein for KIAA0586 (ENSP000002612444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway ISS--
    GO:0060271cilium morphogenesis ISS--

    KIAA0586 for ontologies           About GeneDecksing



    (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 KIAA0586 (TALD3)



    (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 KIAA0586 gene (6 alternative transcripts): 
    NM_001244189.1  NM_001244190.1  NM_001244191.1  NM_001244192.1  NM_001244193.1  NM_014749.3  

    Unigene Cluster for KIAA0586:

    KIAA0586
    Hs.232532  [show with all ESTs]
    Unigene Representative Sequence: NM_001244189
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354386 ENST00000556134 ENST00000423743(uc010trr.2 uc001xdt.4 uc001xdu.4 uc010trs.2)
    ENST00000555203 ENST00000557192 ENST00000554463 ENST00000555833 ENST00000261244(uc001xdv.4)
    ENST00000557590 ENST00000538571(uc010tru.1 uc010trt.2) ENST00000555397
    ENST00000557392 ENST00000556235
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate KIAA0586:
    hsa-miR-3119 hsa-miR-3662 hsa-miR-590-3p hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0586 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat KIAA0586

    Additional mRNA sequence: 

    AB011158.1 AK126155.1 AK302579.1 AK302635.1 AK302718.1 AK302836.1 AK310356.1 AY359881.1 
    BC000900.2 BC066647.1 

    12 DOTS entries:

    DT.317242  DT.97844413  DT.102828530  DT.99993511  DT.120771694  DT.120793161  DT.120771690  DT.92422402 
    DT.95112905  DT.120771683  DT.92422401  DT.101968142 

    Selected AceView cDNA sequences (see all 92):

    BP355287 BE276527 BI334348 CA392494 CB068020 AL044626 AI378482 CR621962 
    H84811 BC066647 AK126155 NM_014749 AY359881 CD244426 BX097526 AL044952 
    AI554198 BQ437979 CD678364 BC000900 AB011158 BV166913 AI538677 BP359670 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0586    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                  
    SP2:                                -                       -         
    SP3:                                                                  


    ECgene alternative splicing isoforms for KIAA0586

    (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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    KIAA0586 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA0586 Expression
    About this image

    KIAA0586 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0586 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.232532
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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 KIAA0586 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2700049A03Rik1 , 5 RIKEN cDNA 2700049A03 gene1, 5 78.86(n)1
    70.46(a)1
      12 (29.39 cM)5
    769671  NM_001163378.11  NP_001156850.11 
     711368485 
    chicken
    (Gallus gallus)
    Aves KIAA05861 KIAA0586 60.99(n)
    48.44(a)
      423540  NM_001040707.1  NP_001035797.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA05866
    KIAA0586
    41(a)
    1 ↔ 1
    GL343459.1(421468-530460)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa05861 KIAA0586 54.22(n)
    44.88(a)
      733508  XM_002933744.2  XP_002933790.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005373451 protein TALPID3-like 48.98(n)
    38.73(a)
      100537345  XM_003200321.2  XP_003200369.2 


    ENSEMBL Gene Tree for KIAA0586 (if available)
    TreeFam Gene Tree for KIAA0586 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA0586 gene
    4 SIMAP similar genes for KIAA0586 using alignment to 6 protein entries:     TALD3_HUMAN (see all proteins):
    TXNRD1    L3MBTL2    ADCY7    PAM16

    KIAA0586 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 KIAA0586 (see all 2357)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1884513341,2
    --58896316(+) TGTTTC/GAGACA 5 -- int10--------
    rs1465931751,2
    C--58896409(+) AACTC-/TCTTAC 5 -- int10--------
    rs1116349741,2
    F--58896461(+) TCTTAG/CGTAAA 5 -- int11Minor allele frequency- C:0.50CSA 2
    rs1176721591,2
    F--58896554(+) TGGTTT/GTCTTA 5 -- int11Minor allele frequency- G:0.03EA 120
    rs1418318491,2
    --58896664(+) GACTTA/TGACGG 5 -- int10--------
    rs1506223521,2
    C--58896667(+) TTTGAC/TGGCTA 5 -- int10--------
    rs740556941,2
    C,F--58896775(+) TTCAAT/ATGAGA 5 -- int11Minor allele frequency- A:0.50WA 2
    rs1812461291,2
    --58896810(+) TCACAA/GTAAAA 5 -- int10--------
    rs1493877801,2
    --58896938(+) CAAATG/TTATGG 5 -- int10--------
    rs1849006851,2
    --58897250(+) AATATA/GAAATA 5 -- int10--------

    HapMap Linkage Disequilibrium report for KIAA0586 (58894103 - 59015549 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA0586:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv826960CNV Loss20364138
    nsv901985CNV Loss21882294

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 610178    OMIM disorders: --

    3 diseases for KIAA0586:    About MalaCards
    cystic kidney    brachydactyly    polydactyly

    1 disease from the University of Copenhagen DISEASES database for KIAA0586:
    Brachydactyly

    KIAA0586 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA0586

    Export disorders for KIAA0586 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 KIAA0586 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with KIAA0586)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation. (PubMed id 19144723)1, 2 Yin Y.... Tickle C. (Development 2009)
    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. (Proteomics 2007)
    3. The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling. (PubMed id 16702409)1, 3 Davey M.G....Burt D.W. (amp 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    6. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    7. 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)
    8. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    9. 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)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. 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: 9786 HGNC: 19960 AceView: KIAA0586 Ensembl:ENSG00000100578 euGenes: HUgn9786
    ECgene: KIAA0586 H-InvDB: KIAA0586

    (According to HUGE)
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    HUGE: KIAA0586

    (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 KIAA0586 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 KIAA0586 gene:
    Search GeneIP for patents involving KIAA0586

    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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