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

KIAA1430 Gene

protein-coding   GIFtS: 36
GCID: GC04M186080

KIAA1430
  Search for KIAA1430
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KIAA1430    

Aliases
for KIAA1430 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
KIAA14301 2
DKFZp434F17281
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


Summaries
for KIAA1430 gene

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

Genomic Views
for KIAA1430 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KIAA1430

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for KIAA1430 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P2B7

    • KIAA1430 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Protein Domains /
    Families
    for KIAA1430 gene

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

    ProtoNet protein and cluster: Q9P2B7

    UniProtKB/Swiss-Prot: K1430_HUMAN, Q9P2B7
    Similarity: Belongs to the UPF0501 family


    Function
    for KIAA1430 gene

    (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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    Pathways & Interactions
    for KIAA1430 gene

    (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 KIAA1430

    Drugs & Compounds
    for KIAA1430 gene

    (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
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    Browse Tocris compounds for KIAA1430
    Search CenterWatch for drugs/clinical trials and news about KIAA1430 / K1430 

    Transcripts
    for KIAA1430 gene

    (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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    About This Section
    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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    Additional cDNA 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

    Expression
    for KIAA1430 gene

    (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

    KIAA1430 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAAAGTAAA

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

    KIAA1430 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KIAA1430 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1430

    SOURCE GeneReport for Unigene cluster: Hs.535734
        SABiosciences Custom PCR Arrays for KIAA1430
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    In Situ
    Assay Products:     
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    Orthologs
    for KIAA1430 gene

    (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 KIAA1430 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 4933411K20Rik1 , 5 RIKEN cDNA 4933411K20 gene1, 5 79.09(n)1
    74.17(a)1    		   8 (26.16 cM)5
    667561  NM_025747.31  NP_080023.11 
     461517715 
    chicken
    (Gallus gallus)    		 Aves KIAA14301 KIAA1430 54.22(n)
    41.05(a)    		   422545  XM_420507.3  XP_420507.3 
    lizard
    (Anolis carolinensis)    		 Reptilia KIAA14306
    		 --
    		 49(a)
    		 1 ↔ 1
    		 5(112985264-113002685)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:859101 zgc:85910 47.61(n)
    41.06(a)    		   337459  NM_212778.1  NP_997943.1 


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

    Paralogs
    for KIAA1430 gene

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

    KIAA1430 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KIAA1430
    PGOHUM00000243967


    Genomic Variants
    for KIAA1430 gene

    (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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KIAA1430
         1 CNV: 64057
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    Disorders / Diseases
    for KIAA1430 gene

    (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
    		   --

    Publications
    for KIAA1430 gene

    (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 KIAA1430 gene, integrated from 9 sources (see all 12):
    (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. (2000)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. 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)
    6. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)

    External Searches for KIAA1430 gene

    (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)

    Genome Databases showing KIAA1430 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57587 HGNC: 29276 Ensembl:ENSG00000164323 euGenes: HUgn57587 ECgene: KIAA1430
    H-InvDB: KIAA1430

    Other Databases showing KIAA1430 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1430

    Specialized Databases showing KIAA1430 gene

    (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 KIAA1430 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KIAA1430 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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    About This Section

     
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