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

KIAA1429 Gene

protein-coding   GIFtS: 46
GCID: GC08M095570

KIAA1429

 Explore 3 diseases affiliated with
KIAA1429 via our new
 Human Malady Compendium 
Biological research products
for KIAA1429
    

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

Aliases
KIAA14291 2
FSAP1211
DKFZP434I1161
Functional Spliceosome-Associated Protein 1212
Protein Virilizer Homolog2

External Ids:    HGNC: 245001   Entrez Gene: 259622   Ensembl: ENSG000001649447   UniProtKB: Q69YN43   

Export aliases for KIAA1429 gene to outside databases

Previous GC identifer: GC08M090709


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

UniProtKB/Swiss-Prot: VIR_HUMAN, Q69YN4
Function: May be involved in mRNA splicing regulation (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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1429 gene promoter:
         AML1a   AP-2gamma   C/EBPalpha   FOXL1   FAC1   STAT3   Meis-1a   ATF   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1429

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1429


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

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

KIAA1429 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1429 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M095570:  view genomic region     (about GC identifiers)

Start:
95,499,921 bp from pter      End:
95,565,757 bp from pter
Size:
65,837 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: VIR_HUMAN, Q69YN4 (See protein sequence)
Recommended Name: Protein virilizer homolog  
Size: 1812 amino acids; 202025 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAA91316.1; Type=Erroneous initiation; Sequence=BAB14301.1; Type=Erroneous initiation;
Sequence=CAB55922.1; Type=Erroneous initiation;
Secondary accessions: Q2M1N0 Q6AHX9 Q6NT78 Q7Z6C7 Q8IXH4 Q9BTH4 Q9H9C9 Q9NWR3 Q9P2B8 Q9UFW1
Alternative splicing: 4 isoforms:  Q69YN4-1   Q69YN4-2   Q69YN4-3   Q69YN4-4   

Explore the universe of human proteins at neXtProt for KIAA1429: NX_Q69YN4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q69YN4

  • KIAA1429 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_056311.2  NP_892121.1  

    ENSEMBL proteins: 
     ENSP00000297591   ENSP00000429909   ENSP00000430857   ENSP00000428784   ENSP00000398390  
     ENSP00000395600  

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    Uscn Proteins for KIAA1429

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    KIAA1429 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

    KIAA1429 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026736 vir

    Graphical View of Domain Structure for InterPro Entry Q69YN4

    ProtoNet protein and cluster: Q69YN4

    UniProtKB/Swiss-Prot: VIR_HUMAN, Q69YN4
    Similarity: Belongs to the vir family


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: VIR_HUMAN, Q69YN4
    Function: May be involved in mRNA splicing regulation (By similarity)

    miRNA
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    Inhib. RNA
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    1 GenomeRNAi human phenotype for KIAA1429:
     Decreased Hepatitis C virus re 


    (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 KIAA1429

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/17 Interacting proteins for KIAA1429 (Q69YN43 ENSP000002975914) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CENPAP494503, ENSP000003368684I2D: score=1 STRING: ENSP00000336868
    PIN1Q135263, ENSP000002479704I2D: score=2 STRING: ENSP00000247970
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    RPL36Q9Y3U83I2D: score=5 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--


    KIAA1429 for ontologies           About GeneDecksing



    (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 KIAA1429
    Search CenterWatch for drugs/clinical trials and news about KIAA1429 / VIR 

    (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 KIAA1429 gene (2 alternative transcripts): 
    NM_015496.4  NM_183009.2  

    Unigene Cluster for KIAA1429:

    KIAA1429
    Hs.202238  [show with all ESTs]
    Unigene Representative Sequence: CR627454
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297591(uc010maz.2 uc003ygo.2) ENST00000521080 ENST00000522263
    ENST00000522196 ENST00000517624 ENST00000523263 ENST00000523405 ENST00000421249(uc003ygp.3)
    ENST00000519001 ENST00000437199

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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA1429 (see all 16):
    hsa-miR-142-5p hsa-miR-300 hsa-miR-4328 hsa-miR-511 hsa-miR-133a hsa-miR-4330 hsa-miR-331-5p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1429 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB037850.1 AF116724.1 AK000668.1 AK022906.1 AL117434.1 AL832487.1 BC003701.1 BC053875.1 
    BC069239.1 BC112288.1 BC113380.1 CR627454.1 

    11 DOTS entries:

    DT.215218  DT.97762759  DT.100791871  DT.86847512  DT.405259  DT.105540  DT.100791873  DT.121477046 
    DT.95166092  DT.95166094  DT.95166096 

    24/250 AceView cDNA sequences (see all 250):

    CB157805 CB110204 CB109933 AI351181 AI624792 AA465319 BU190994 CB109234 
    BX331522 AK022906 AI652842 AA424182 CR620832 BC053875 CD108987 AA203689 
    CB109272 AI338824 CB109182 AA912095 CB109207 Z45498 BF035302 AI371073 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1429    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
    SP1:                                                              -                                                                                 
    SP2:                                                              -                       -                                   -     -               
    SP3:                                                                                                              -                                 
    SP4:                                                                                                                                                
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for KIAA1429

    (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

    KIAA1429 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACGCTCCTT

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

    About this image
    See KIAA1429 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1429

    SOURCE GeneReport for Unigene cluster: Hs.202238
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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 KIAA1429 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1110037F02Rik1 , 5 RIKEN cDNA 1110037F02 gene1, 5 89.91(n)1
    95.75(a)1
      4 (5.11 cM)5
    661851  NM_001081183.11  NP_001074652.11 
     114859585 
    chicken
    (Gallus gallus)
    Aves KIAA14291 KIAA1429 80.1(n)
    87.08(a)
      420227  XM_418337.3  XP_418337.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14296
    --
    84(a)
    1 ↔ 1
    4(19037927-19068865)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.95612 Xenopus laevis transcribed sequence with moderate similarity more 76.94(n)    BX854271.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5602601 protein virilizer homolog 60.71(n)
    59.61(a)
      560260  XM_683656.4  XP_688748.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta vir1 virilizer 41.22(n)
    30.29(a)
      47869  NM_080161.1  NP_524900.1 


    ENSEMBL Gene Tree for KIAA1429 (if available)
    TreeFam Gene Tree for KIAA1429 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA1429 gene

    KIAA1429 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KIAA1429
    PGOHUM00000244688


    (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

    10/1213 NCBI SNPs in KIAA1429 are shown (see all 1213    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs132622101,2
    C,F,--95499536(+) agctcG/Actctc 1 -- int14Minor allele frequency- A:0.04NA 126
    rs1458719951,2
    --95499573(+) TATGTC/GAGCAC 1 -- int10--------
    rs1406938991,2
    --95499598(+) GCATAC/TAAGCC 1 -- int10--------
    rs1446310791,2
    --95499831(+) AAAGTA/GTTTTC 1 -- int10--------
    rs1860571471,2
    --95499947(+) TTTACA/GCCACT 1 -- int10--------
    rs1150137061,2
    F,--95499954(+) CACTTA/TTATAG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1385241271,2
    --95499976(+) TAAGAC/TGTATC 1 -- int10--------
    rs1904758671,2
    --95499994(+) AAATAC/TGGCTA 1 -- int10--------
    rs1380151541,2
    C,--95500057(+) ATGTT-/TCTGATT 1 -- ut310--------
    rs1403077221,2
    --95500335(+) GAGGTA/GGTTTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA1429 (95499921 - 95565757 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for KIAA1429
         3 CNVs: 1798 95570 65197

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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

    KIAA1429 for disorders           About GeneDecksing

    3 diseases for KIAA1429:    About MalaCards
    virilization    oxyphilic adenoma    adenoma

    1 disease from the University of Copenhagen DISEASES database for KIAA1429:
    Oxyphilic adenoma

    Export disorders for KIAA1429 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 KIAA1429 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with KIAA1429)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. 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)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)
    9. 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)
    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: 25962 HGNC: 24500 AceView: DKFZP434I116 Ensembl:ENSG00000164944 euGenes: HUgn25962
    ECgene: KIAA1429 H-InvDB: KIAA1429

    (According to HUGE)
    About This Section
    HUGE: KIAA1429

    (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 KIAA1429 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 KIAA1429 gene:
    Search GeneIP for patents involving KIAA1429

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



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