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KIAA0947 Gene

protein-coding   GIFtS: 42
GCID: GC05P005420

KIAA0947

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(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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA0947 Gene:
KIAA0947 (KIAA0947) is a protein-coding gene.


(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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_006576.17  
Regulatory elements:
   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 Chromatin IP Primers for KIAA0947

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

Explore proteomics data for KIAA0947 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA0947 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056140.1  
    ENSEMBL proteins: 
     ENSP00000296564  

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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: 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, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity ----
         
    Find genes that share ontologies with KIAA0947           About GenesLikeMe


    Animal Models:
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    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
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1

    (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 KIAA0947
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0947

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected 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
    MTF2Q9Y4833, ENSP000003593214I2D: score=1 STRING: ENSP00000359321
    USPL1Q5W0Q73, ENSP000002553044I2D: score=2 STRING: ENSP00000255304
    JARID2Q928333I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport ----

    Find genes that share ontologies with KIAA0947           About GenesLikeMe



    (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 KIAA0947 (K0947)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0947
      QuantiFast Probe-based Assays in human, mouse, rat KIAA0947

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 128):

    BX538020 AI470095 AL560388 CD106980 AK095073 BM008307 CA388756 AA807247 
    AA973163 AA938202 CB322002 BU620442 AI280238 CR749441 AI148165 BM663707 
    AL520454 W74670 AA447230 AA557152 BM976435 AI697136 AI373422 AL137260 

    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™, 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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    KIAA0947 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTGATTT
    KIAA0947 Expression
    About this image

    KIAA0947 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0947 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.449296
        Custom PCR Arrays for KIAA0947
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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 KIAA0947 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0185071 , 5 cDNA sequence BC0185071, 5 71.74(n)1
    62.85(a)1
      13 (35.97 cM)5
    2183331  NM_144837.31  NP_659086.21 
     705886895 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    61(a)
    55(a)
    many → 1
    many → 1
    2(55449412-55452927)
    2(55418732-55434205)
    lizard
    (Anolis carolinensis)
    Reptilia KIAA09476
    KIAA0947
    62(a)
    1 ↔ 1
    GL343211.1(2744205-2750273)
    zebrafish
    (Danio rerio)
    Actinopterygii kiaa0947l6
    KIAA0947 (2 of 2)6
    KIAA0947
    28(a)
    28(a)
    many → 1
    many → 1
    16(10728050-10747747) ENSDARG00000058461
    16(11008135-11028028) ENSDARG00000090222


    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)
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      --

    (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 KIAA0947 (see all 1498)    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
    C--5421462(+) CGCTAC/TGGATC 1 -- us2k10--------
    rs1138213131,2
    C,F--5421494(+) TTAACC/TTTACC 1 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for KIAA0947 (5420777 - 5490347 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA0947:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528309CNV Loss19592680
    dgv1749e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0947
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0947

    (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.)
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    Find genes that share disorders with KIAA0947           About GenesLikeMe

    Genetic Association Database (GAD): KIAA0947

    Export disorders for KIAA0947 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 KIAA0947 gene, integrated from 10 sources (see all 26):
    (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. (DNA Res. 1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PubMed id 23648065)1 Low S.K....Nakamura Y. (Cancer Sci. 2013)
    4. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    5. Human mediator subunit MED26 functions as a docking site for transcription elongation factors. (PubMed id 21729782)1 Takahashi H....Conaway J.W. (Cell 2011)
    6. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23379 HGNC: 29154 AceView: KIAA0947 Ensembl:ENSG00000164151 euGenes: HUgn23379
    ECgene: KIAA0947 H-InvDB: KIAA0947

    (According to HUGE)
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    HUGE: KIAA0947

    (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 KIAA0947 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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