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KIAA1430 Gene

protein-coding   GIFtS: 39
GCID: GC04M186080

KIAA1430

  Search for KIAA1430
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
KIAA14301 2
UPF0501 Protein KIAA14302

External Ids:    HGNC: 292761   Entrez Gene: 575872   Ensembl: ENSG000001643237   UniProtKB: Q9P2B73   

Export aliases for KIAA1430 gene to outside databases

Previous GC identifers: GC04M187117 GC04M186761 GC04M186777 GC04M186768 GC04U900414 GC04M186459 GC04M186317 GC04M181834


(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 KIAA1430 Gene:
KIAA1430 (KIAA1430) 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_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1430 gene promoter:
         AML1a   AP-2gamma   IRF-2   E2F-1   E2F   FOXJ2 (long isoform)   AP-2beta   FOXJ2   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1430

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1430


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

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35.1

KIAA1430 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1430 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M186080:  view genomic region     (about GC identifiers)

Start:
186,080,819 bp from pter      End:
186,130,658 bp from pter
Size:
49,840 bases      Orientation:
minus 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: K1430_HUMAN, Q9P2B7 (See protein sequence)
Recommended Name: UPF0501 protein KIAA1430  
Size: 532 amino acids; 59475 Da
Sequence caution: Sequence=AAH20772.1; Type=Frameshift; Positions=50; Sequence=AAH20772.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAY40976.1; Type=Erroneous gene
model prediction;
Secondary accessions: B3KRP7 D3DP60 Q05CU1 Q4W5M4 Q8N6E7 Q9UF45
Alternative splicing: 2 isoforms:  Q9P2B7-1   Q9P2B7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1430: NX_Q9P2B7

Explore proteomics data for KIAA1430 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys375
  • Modification sites at PhosphoSitePlus

  • See KIAA1430 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065878.1  
    ENSEMBL proteins: 
     ENSP00000409964   ENSP00000423312   ENSP00000420832   ENSP00000296775  

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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: Q9P2B7

    UniProtKB/Swiss-Prot: K1430_HUMAN, Q9P2B7
    Similarity: Belongs to the UPF0501 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, 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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    Animal Models:
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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
    nucleus3
    cytosol2

    (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 KIAA1430
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1430

    (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 KIAA1430 (K1430)



    (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 KIAA1430 gene: 
    NM_020827.1  

    Unigene Cluster for KIAA1430:

    KIAA1430
    Hs.535734  [show with all ESTs]
    Unigene Representative Sequence: NM_020827
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458385(uc003ixf.4) ENST00000514798(uc003ixg.3) ENST00000502992
    ENST00000503223 ENST00000296775
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    hsa-miR-3673 hsa-miR-200a hsa-miR-507 hsa-miR-570 hsa-miR-141 hsa-miR-7-1* hsa-miR-548x hsa-miR-28-5p
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      QuantiFast Probe-based Assays in human, mouse, rat KIAA1430

    Additional mRNA sequence: 

    AB037851.1 AK024878.1 AK091993.1 AK130263.1 AL133615.1 BC020772.1 BC030535.1 

    7 DOTS entries:

    DT.97809131  DT.444716  DT.91716353  DT.100045254  DT.91746316  DT.95266340  DT.99954266 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1430    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
    SP1:              -                 -               
    SP2:                                                


    ECgene alternative splicing isoforms for KIAA1430

    (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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    KIAA1430 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAGTAAA
    KIAA1430 Expression
    About this image


    KIAA1430 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Testis (Reproductive System)
    KIAA1430 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1430 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.535734
        Custom PCR Arrays for KIAA1430
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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 KIAA1430 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4933411K20Rik1 , 5 RIKEN cDNA 4933411K20 gene1, 5 78.45(n)1
    73.4(a)1
      8 (26.16 cM)5
    667561  NM_025747.31  NP_080023.11 
     461517715 
    chicken
    (Gallus gallus)
    Aves KIAA14306
    KIAA1430
    38(a)
    1 ↔ 1
    4(38786566-38804359)
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14306
    KIAA1430
    49(a)
    1 ↔ 1
    5(112985264-113002685)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa14301 KIAA1430 57.08(n)
    47.49(a)
      100124762  NM_001102741.1  NP_001096211.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:859106
    zgc:85910
    33(a)
    1 ↔ 1
    1(16422939-16435168) ENSDARG00000056381


    ENSEMBL Gene Tree for KIAA1430 (if available)
    TreeFam Gene Tree for KIAA1430 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1430 gene

    Find genes that share paralogs with KIAA1430           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KIAA1430
    PGOHUM00000243967


    (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 KIAA1430 (see all 1092)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs594698861,2
    --186080328(+) ATGGCA/GAAACC 1 -- int10--------
    rs286368371,2
    C,F--186080376(+) GATGGC/TGTGTG 1 -- int16Minor allele frequency- T:0.42NA WA CSA 12
    rs285844161,2
    C,F--186080388(+) CTGTAA/GTCCCA 1 -- int15Minor allele frequency- G:0.40NA WA CSA 10
    rs1894795561,2
    --186080428(+) GCTTGA/CACCTG 1 -- int10--------
    rs2019325531,2
    --186080516(+) ATACA-/AACAACAA 1 -- cds10--------
    rs588464571,2
    C--186080534(+) ACAACAAG/-AAGCC 1 -- cds11Minor allele frequency- -:0.50NA 2
    rs727022011,2
    C--186080534(+) AACAAG/CAAGCC 1 -- int11Minor allele frequency- C:0.50NA 2
    rs3765288701,2
    C--186080535(+) CAACA-/AAGAGCCC 1 -- cds10--------
    rs1930047181,2
    --186080754(+) AAATTA/TTTCTA 1 -- int10--------
    rs1844972391,2
    --186080912(+) AAGGAG/TGTTAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA1430 (186080819 - 186130658 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KIAA1430:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv989960CNV Insertion20482838
    esv28748CNV Loss19812545
    nsv461859CNV Loss19166990
    nsv822883CNV Gain20364138

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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.)
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      --

    (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 KIAA1430 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with KIAA1430)
        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. (DNA Res. 2000)
    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. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    4. 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)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. 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)
    7. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    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 quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (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: 57587 HGNC: 29276 Ensembl:ENSG00000164323 euGenes: HUgn57587 ECgene: KIAA1430
    H-InvDB: KIAA1430

    (According to HUGE)
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    HUGE: KIAA1430

    (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 KIAA1430 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 KIAA1430 gene:
    Search GeneIP for patents involving KIAA1430

    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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