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

KIAA0947 Gene

protein-coding   GIFtS: 37
GCID: GC05P005420

KIAA0947

  Search for KIAA0947
in our new
 Human Malady Compendium 
Biological research products
for KIAA0947
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KIAA09471 2
Uncharacterized Protein KIAA09472

External Ids:    HGNC: 291541   Entrez Gene: 233792   Ensembl: ENSG000001641517   UniProtKB: Q9Y2F53   

Export aliases for KIAA0947 gene to outside databases

Previous GC identifers: GC05P005601 GC05P005493 GC05P005474 GC05P005437 GC05P005475


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0947 gene promoter:
         AhR   p53   FOXJ2 (long isoform)   STAT3   FOXJ2   YY1   Arnt   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0947

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0947


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

Entrez Gene cytogenetic band: 5p15.32   Ensembl cytogenetic band:  5p15.32   HGNC cytogenetic band: 5p15

KIAA0947 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0947 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P005420:  view genomic region     (about GC identifiers)

Start:
5,420,777 bp from pter      End:
5,490,347 bp from pter
Size:
69,571 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K0947_HUMAN, Q9Y2F5 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0947  
Size: 2266 amino acids; 247891 Da
Sequence caution: Sequence=BAA76791.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC86755.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAB70661.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAB70661.1; Type=Erroneous termination; Positions=2051;
Note=Translated as Gln;
Secondary accessions: Q68DE1 Q6ZT40 Q7L587 Q7Z3A9 Q9NTH9

Explore the universe of human proteins at neXtProt for KIAA0947: NX_Q9Y2F5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y2F5

  • KIAA0947 Protein expression data from MOPED and PaxDb:    About this image 
    KIAA0947 Protein Expression
    REFSEQ proteins: NP_056140.1  
    ENSEMBL proteins: 
     ENSP00000296564  

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

    ProtoNet protein and cluster: Q9Y2F5


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0947

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for KIAA0947 (Q9Y2F52, 3 ENSP000002965644) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTRCQ9Y2972, 3, ENSP000003592064MINT-8249718 I2D: score=2 STRING: ENSP00000359206
    AIMP2Q131552, 3, ENSP000002230294MINT-8258929 I2D: score=2 STRING: ENSP00000223029
    JARID2Q928333, ENSP000003412804I2D: score=1 STRING: ENSP00000341280
    MTF2Q9Y4833, ENSP000003593214I2D: score=1 STRING: ENSP00000359321
    USPL1Q5W0Q73, ENSP000002553044I2D: score=2 STRING: ENSP00000255304
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 KIAA0947
    Search CenterWatch for drugs/clinical trials and news about KIAA0947 / K0947 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0947 gene: 
    NM_015325.2  

    Unigene Cluster for KIAA0947:

    KIAA0947
    Hs.449296  [show with all ESTs]
    Unigene Representative Sequence: NM_015325
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512608 ENST00000296564(uc003jdm.4) ENST00000505464

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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA0947 (see all 29):
    hsa-miR-300 hsa-miR-1197 hsa-miR-3653 hsa-miR-340 hsa-miR-1205 hsa-miR-103a hsa-miR-1297 hsa-miR-1273d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AB023164.3 AK024400.1 AK025279.1 AK095073.1 AK096615.1 AK130025.1 AL137260.1 AL832204.1 
    BC004902.2 BC041002.2 BX538020.1 CR749441.1 

    8 DOTS entries:

    DT.314743  DT.92429569  DT.101981446  DT.101955547  DT.120861410  DT.100777475  DT.40302217  DT.95363634 

    24/128 AceView cDNA sequences (see all 128):

    AL832204 AI918362 CA432431 CA388756 BM976435 AA938202 BM663707 CR749441 
    W74670 AK130025 AI470095 AI339461 N72874 AA557152 AI697136 AA447230 
    BQ447128 AA716553 AI362241 AI373422 AI148165 BU620442 AL137260 BM008307 

    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

    KIAA0947 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTTTGATTT
    KIAA0947 Expression
    About this image
    See KIAA0947 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0947

    SOURCE GeneReport for Unigene cluster: Hs.449296
        SABiosciences Custom PCR Arrays for KIAA0947

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0947

    (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 KIAA0947 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0185071 , 5 cDNA sequence BC0185071, 5 71.76(n)1
    62.93(a)1
      13 (35.97 cM)5
    2183331  NM_144837.31  NP_659086.21 
     705886895 
    chicken
    (Gallus gallus)
    Aves LOC4207931 uncharacterized LOC420793 65.29(n)
    58(a)
      420793  XM_418888.3  XP_418888.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA09476
    --
    64(a)
    1 ↔ 1
    GL343211.1(2744205-2750273)
    zebrafish
    (Danio rerio)
    Actinopterygii CU467889.46
    kiaa0947l6
    KIAA0947-like (H. sapiens)
    29(a)
    29(a)
    many → 1
    many → 1
    16(11008135-11028028)
    16(10728050-10747747)


    ENSEMBL Gene Tree for KIAA0947 (if available)
    TreeFam Gene Tree for KIAA0947 (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, UniProtKB, 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

    10/1152 NCBI SNPs in KIAA0947 are shown (see all 1152    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1391661371,2
    --5420893(+) ATTCTA/TTCTGA 1 -- us2k10--------
    rs1898837381,2
    --5420999(+) GATGTC/TACTAA 1 -- us2k10--------
    rs29133811,2
    C,H--5421137(+) CAGGTG/AAGGGG 1 -- us2k1 trp314Minor allele frequency- A:0.05NA NS WA CSA EA 743
    rs1822409101,2
    --5421174(+) GGGAGG/TCAGCA 1 -- us2k10--------
    rs1868427511,2
    --5421209(+) CATAAA/CAGTGC 1 -- us2k10--------
    rs1495800391,2
    --5421305(+) AACTGC/TACATA 1 -- us2k10--------
    rs1917766561,2
    --5421312(+) CATAAA/GAGGGA 1 -- us2k10--------
    rs1842219721,2
    --5421399(+) AATACC/TTGCTG 1 -- us2k10--------
    rs1442965551,2
    --5421462(+) CGCTAC/TGGATC 1 -- us2k10--------
    rs1138213131,2
    --5421494(+) TTAACC/TTTACC 1 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for KIAA0947 (5420777 - 5490347 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KIAA0947
         1 CNV: 3540

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 KIAA0947 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with KIAA0947)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Nagase T.... Ohara O. (1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    6. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    7. 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)
    8. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    9. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (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: 23379 HGNC: 29154 AceView: KIAA0947 Ensembl:ENSG00000164151 euGenes: HUgn23379
    ECgene: KIAA0947 H-InvDB: KIAA0947

    (According to HUGE)
    About This Section
    HUGE: KIAA0947

    (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 KIAA0947 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 KIAA0947 gene:
    Search GeneIP for patents involving KIAA0947

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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