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

KIAA0020 Gene

protein-coding   GIFtS: 53
GCID: GC09M002720

KIAA0020

 Explore 3 diseases affiliated with
KIAA0020 via our new
 Human Malady Compendium 
Biological research products
for KIAA0020
    

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

Aliases
KIAA00201 2     Minor Histocompatibility Antigen HA-82 3
XTP51 2 3     HBV X-Transactivated Gene 5 Protein2 3
HLA-HA82 3 5     HBV XAg-Transactivated Protein 52 3
HA-81 2     Penguin Homolog2
PEN1 2     Protein 5 Transactivated By Hepatitis B Virus X Antigen (HBxAg)2
PUF61 2     Pumilio Domain-Containing Protein KIAA00202
HPUF-A1     

External Ids:    HGNC: 296761   Entrez Gene: 99332   Ensembl: ENSG000000806087   OMIM: 6099605   UniProtKB: Q153973   

Export aliases for KIAA0020 gene to outside databases

Previous GC identifers: GC09M002958 GC09M002785 GC09M002795 GC09M002796 GC09M002797


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

Gene Wiki entry for KIAA0020


(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_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0020 gene promoter:
         E2F-4   E2F-3a   E2F-5   Sp1   MEF-2   E2F-2   MEF-2A   E2F   E2F-1   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0020

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0020


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

Entrez Gene cytogenetic band: 9p24.2   Ensembl cytogenetic band:  9p24.2   HGNC cytogenetic band: 9p24.2

KIAA0020 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0020 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M002720:  view genomic region     (about GC identifiers)

Start:
2,720,469 bp from pter      End:
2,844,241 bp from pter
Size:
123,773 bases      Orientation:
minus 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: K0020_HUMAN, Q15397 (See protein sequence)
Recommended Name: Pumilio domain-containing protein KIAA0020  
Size: 648 amino acids; 73584 Da
Subcellular location: Nucleus, nucleolus
Sequence caution: Sequence=BAA02808.1; Type=Erroneous initiation; Sequence=CAI12924.2; Type=Erroneous gene model
prediction; Sequence=CAI15123.2; Type=Erroneous gene model prediction;
Secondary accessions: A8K804 Q547G7 Q5SZY9 Q6IB47 Q96B27 Q96L78 Q96L79 Q96L80

Explore the universe of human proteins at neXtProt for KIAA0020: NX_Q15397

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15397

  • KIAA0020 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055693.4  
    ENSEMBL proteins: 
     ENSP00000380982  

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    Uscn Proteins for KIAA0020

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005783endoplasmic reticulum IDA10942595


    KIAA0020 for ontologies           About GeneDecksing



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

    KIAA0020 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011989 ARM-like
     IPR001313 Pumilio_RNA-bd_rpt
     IPR012959 CPL
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q15397

    ProtoNet protein and cluster: Q15397

    2 Blocks protein families:
    IPB001313 Pumilio/Puf RNA-binding
    IPB012959 CPL


    UniProtKB/Swiss-Prot: K0020_HUMAN, Q15397
    Domain: The HA-8 region can be cleaved and exposed at the cell surface where it plays a role as a minor
    histocompatibility HLA-A*0201-restricted antigen
    Similarity: Contains 1 PUM-HD domain
    Similarity: Contains 6 pumilio repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--


    KIAA0020 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KIAA0020:
     Decreased circadian period len 


    (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 KIAA0020

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/203 Interacting proteins for KIAA0020 (Q153972, 3 ENSP000003809824) via UniProtKB, MINT, STRING, and/or I2D (see all 203)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=3 
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    HIST1H4DP628053I2D: score=3 
    HIST1H4EP628053I2D: score=3 
    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 KIAA0020
    Search CenterWatch for drugs/clinical trials and news about KIAA0020 / K0020 

    (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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0020 gene (2 alternative transcripts): 
    NM_001031691.1  NM_014878.4  

    Unigene Cluster for KIAA0020:

    KIAA0020
    Hs.493309  [show with all ESTs]
    Unigene Representative Sequence: NM_014878
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490444 ENST00000397885(uc003zhp.1 uc003zhq.1) ENST00000382032
    ENST00000469168

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF490254.1 AK225953.1 AK292169.1 AK315531.1 AL832239.1 AL832245.1 AY047588.1 AY047589.1 
    AY047590.1 BC016137.2 BC020598.1 CR456957.1 D13645.1 

    9 DOTS entries:

    DT.212586  DT.40131893  DT.100810484  DT.91648820  DT.100809145  DT.100810491  DT.120794743  DT.121198176 
    DT.99952277 

    24/177 AceView cDNA sequences (see all 177):

    CA442401 CR605925 NM_014878 AY047590 BU194185 CB162869 CR607424 AF490254 
    BM015604 BX388854 BX330429 BU688253 BM917085 AA577507 BX349676 BP341803 
    BP364867 AI936509 BF431123 AA454662 BU194937 BP364238 BM789425 BG109169 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0020    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                                                      
    SP2:                                                                                                      


    ECgene alternative splicing isoforms for KIAA0020

    (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

    KIAA0020 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGGTATGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KIAA0020 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0020

    SOURCE GeneReport for Unigene cluster: Hs.493309

    UniProtKB/Swiss-Prot: K0020_HUMAN, Q15397
    Tissue specificity: Widely expressed

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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 eukaryotes.

    Orthologs for KIAA0020 gene from 10/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D19Bwg1357e1 , 5 DNA segment, Chr 19, Brigham & Women's Genetics 1357 more1, 5 86.07(n)1
    89.78(a)1
      19 (21.96 cM)5
    528741  NM_177474.41  NP_803425.11 
     273887025 
    chicken
    (Gallus gallus)
    Aves KIAA00201 KIAA0020 72.11(n)
    71.78(a)
      427350  NM_001031437.1  NP_001026608.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA00206
    --
    70(a)
    1 ↔ 1
    2(51238658-51275874)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984712 hypothetical protein LOC398471 75.28(n)    BC043888.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb3792 sbcb379 77.4(n)   321231  CA471926.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pen1 , 3 penguin1 27(a)3
    43.43(n)1
    30.68(a)1
      19F53
    331121  NM_078705.21  NP_523429.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK945.33
    puf-121
    pumilio-repeat like domain3
    Protein PUF-121
    32(a)3
    46.18(n)1
    31.82(a)1
      II(10100238-10102780)3
    1745721  NM_063777.41  NP_496178.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUF61 Puf6p 42.96(n)
    28.16(a)
      852107   NP_010784.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PUM241 protein pumilio 24 44.74(n)
    30.99(a)
      820934  NM_112555.1  NP_566559.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g08311001 hypothetical protein 43.38(n)
    30.68(a)
      4334667  NM_001058326.1  NP_001051791.1 


    ENSEMBL Gene Tree for KIAA0020 (if available)
    TreeFam Gene Tree for KIAA0020 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA0020 gene

    KIAA0020 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KIAA0020
    PGOHUM00000248172 PGOHUM00000245490


    (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

    UniProtKB/Swiss-Prot: K0020_HUMAN, Q15397
    Polymorphism: The following alleles of HA-8 are known: HA-8R, HA-8P, HA-8PL, of which only HA-8R leads to specific
    cytotoxic T lymphocyte (CTL) recognition. The lack of CTL recognition of cells expressing HA-8P may be due to impaired
    transport associated with antigen processing. The sequence shown is that of HA-8R


    10/886 NCBI SNPs in KIAA0020 are shown (see all 886    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs109682201,2
    C,F,A,H,--2803726(+) AACACC/TGCAAT 1 -- int121Minor allele frequency- T:0.12NS EA NA WA CSA 2348
    rs1932494831,2
    --2803807(+) CAAAAC/TCTAGC 1 -- int10--------
    rs1495619861,2
    --2803819(+) TGGAAC/TCTAAT 1 -- int10--------
    rs1179394951,2
    F,--2803836(+) AACAGC/GTAGGT 1 -- int11Minor allele frequency- G:0.02NA 120
    rs1472565651,2
    --2803870(+) CCCCGA/GTACTC 1 -- int10--------
    rs726946411,2
    C,F,--2803925(+) TTTTCC/TACATC 1 -- int11Minor allele frequency- T:0.02NA 120
    rs1397538491,2
    --2804034(+) AACTCA/TTTCAA 1 -- int10--------
    rs1141983721,2
    C,F,--2804168(+) GACCAT/CTTAAA 1 -- ut311Minor allele frequency- C:0.04WA 118
    rs625343871,2
    --2804197(+) AGATTC/TGTATA 1 -- ut310--------
    rs772940141,2
    --2804272(+) CTGCAT/CTGGGA 1 -- ut313Minor allele frequency- C:0.04CSA WA 121

    HapMap Linkage Disequilibrium report for KIAA0020 (2720469 - 2844241 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KIAA0020
         1 CNV: 100559

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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

    KIAA0020 for disorders           About GeneDecksing

    OMIM gene information: 609960    OMIM disorders: --

    3 diseases for KIAA0020:    About MalaCards
    hepatitis b    hepatitis    celiac disease

    Human Genome Epidemiology (HuGE) Navigator: KIAA0020 (3 documents)

    Export disorders for KIAA0020 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 KIAA0020 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with KIAA0020)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2, 3 Nomura N.... Tabata S. (1994)
    2. hPuf-A/KIAA0020 modulates PARP-1 cleavage upon genoto xic stress. (PubMed id 21266351)1, 3 Chang H.Y....Chang M.S. (2011)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    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. (2004)
    5. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (2002)
    6. The immunogenicity of a new human minor histocompatibility antigen results from differential antigen processing. (PubMed id 11148223)1, 2 Brickner A.G.... Riddell S.R. (2001)
    7. Prediction of the coding sequences of unidentified hu man genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell li ne KG-1 (supplement). (PubMed id 7584028)1, 3 Nomura N....Tabata S. (1994)
    8. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    9. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (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)
    About This Section
    Entrez Gene: 9933 HGNC: 29676 AceView: KIAA0020 Ensembl:ENSG00000080608 euGenes: HUgn9933
    ECgene: KIAA0020 H-InvDB: KIAA0020

    (According to HUGE)
    About This Section
    HUGE: KIAA0020

    (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 KIAA0020 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 KIAA0020 gene:
    Search GeneIP for patents involving KIAA0020

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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