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KIAA0513 Gene

protein-coding   GIFtS: 50
GCID: GC16P085061

KIAA0513

  Search for KIAA0513
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
KIAA05131 2
Uncharacterized Protein KIAA05132

External Ids:    HGNC: 290581   Entrez Gene: 97642   Ensembl: ENSG000001357097   OMIM: 6116755   UniProtKB: O602683   

Export aliases for KIAA0513 gene to outside databases

Previous GC identifers: GC16P075607 GC16P086027 GC16P084800 GC16P084841 GC16P084876 GC16P083618 GC16P070814


(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 KIAA0513 Gene:
KIAA0513 (KIAA0513) 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_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0513 gene promoter:
         ER-alpha   JunB   FosB   Fra-1   Pax-2   Olf-1   Pax-2a   JunD   HOXA5   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA0513 promoter sequence
   Search Chromatin IP Primers for KIAA0513

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0513


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

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q24.1   HGNC cytogenetic band: 16q24.1

KIAA0513 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0513 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P085061:  view genomic region     (about GC identifiers)

Start:
85,061,375 bp from pter      End:
85,127,836 bp from pter
Size:
66,462 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: K0513_HUMAN, O60268 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0513  
Size: 411 amino acids; 46639 Da
Sequence caution: Sequence=BAA25439.2; Type=Erroneous initiation;
Secondary accessions: D3DUM2 Q8N6G0
Alternative splicing: 2 isoforms:  O60268-1   O60268-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0513: NX_O60268

Explore proteomics data for KIAA0513 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA0513 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273494.1  NP_001273495.1  NP_055547.1  

    ENSEMBL proteins: 
     ENSP00000457408   ENSP00000455544   ENSP00000454547   ENSP00000454758   ENSP00000446439  
     ENSP00000258180  

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for KIAA0513 


    (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: O60268


    (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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA0513
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    miRNA
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    miRTarBase miRNAs that target KIAA0513:
    hsa-mir-375 (MIRT019910)

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    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-330-5p hsa-miR-106a hsa-miR-519a hsa-miR-372 hsa-miR-93
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA0513

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    Clone
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    GenScript: all cDNA clones in your preferred vector: KIAA0513 (NM_014732)
    Browse Sino Biological Human cDNA Clones
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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 UniProtKB/Swiss-Prot
    K0513_HUMAN, O60268: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with KIAA0513           About GenesLikeMe


    (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 KIAA0513
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0513

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for KIAA0513 (O602683 ENSP000002581804) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAX1O001653, ENSP000003290024I2D: score=1 STRING: ENSP00000329002
    WWC1Q8IX033, ENSP000002652934I2D: score=1 STRING: ENSP00000265293
    INTS4Q96HW73I2D: score=1 
    --ENSP000003469134STRING: ENSP00000346913
    About this table

    (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 KIAA0513 (K0513)



    (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 KIAA0513 gene (3 alternative transcripts): 
    NM_001286565.1  NM_001286566.1  NM_014732.3  

    Unigene Cluster for KIAA0513:

    KIAA0513
    Hs.301658  [show with all ESTs]
    Unigene Representative Sequence: AB011085
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566428 ENST00000567328(uc002fit.3) ENST00000562580 ENST00000562564
    ENST00000562388 ENST00000538274 ENST00000258180(uc010voj.2 uc002fiu.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA0513 (see all 43):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-330-5p hsa-miR-106a hsa-miR-519a hsa-miR-372 hsa-miR-93
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector: KIAA0513 (NM_014732)
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      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0513
      QuantiFast Probe-based Assays in human, mouse, rat KIAA0513

    Additional mRNA sequence: 

    AB011085.1 AF055005.1 AK299892.1 BC030280.1 U79288.1 

    4 DOTS entries:

    DT.316374  DT.100651958  DT.100023529  DT.100726025 

    Selected AceView cDNA sequences (see all 169):

    BC030280 AI215834 CD673856 BP348674 AL706948 AI223261 BU932054 BU845602 
    BU541171 BQ935624 BU553840 CA436879 CA440403 CB851007 BQ187684 F01625 
    AA933585 BQ278088 BU849766 BU552658 CR609367 AI797051 BP362790 AF055005 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0513    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:        -                                                                                             
    SP2:                                                                                                      
    SP3:                                                                                -                     
    SP4:                                                              -                                       
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for KIAA0513

    (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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    KIAA0513 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTATATATT
    KIAA0513 Expression
    About this image


    KIAA0513 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
    KIAA0513 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0513 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.301658

    UniProtKB/Swiss-Prot: K0513_HUMAN, O60268
    Tissue specificity: Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and
    amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the
    dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals

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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 animals.

    Orthologs for KIAA0513 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 6430548M08Rik1 , 5 RIKEN cDNA 6430548M08 gene1, 5 85.42(n)1
    89.68(a)1
      8 (68.99 cM)5
    2347971  NM_001163760.11  NP_001157232.11 
     1201141525 
    chicken
    (Gallus gallus)
    Aves KIAA05131 KIAA0513 78.93(n)
    79.01(a)
      772040  XM_001235239.3  XP_001235240.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA05136
    KIAA0513
    52(a)
    1 ↔ 1
    GL343957.1(648-20713)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa05131 KIAA0513 70.71(n)
    74.26(a)
      100125070  NM_001102984.1  NP_001096454.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj54b012 Transcribed sequence with weak similarity to protein more 78.06(n)    CD585862.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG173786
    --
    15(a)
    1 ↔ 1
    2L(6774041-6778444)


    ENSEMBL Gene Tree for KIAA0513 (if available)
    TreeFam Gene Tree for KIAA0513 (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 KIAA0513 (see all 1886)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18752461,2
    C,F,A,H--85059568(-) TGAACT/CTGACA 1 -- us2k128Minor allele frequency- C:0.46NS EA NA WA CSA 2769
    rs1875912011,2
    --85059611(+) CTCTTG/TTAAAA 1 -- us2k10--------
    rs129178971,2
    H--85059622(+) AATGGT/CCATGT 1 -- us2k14Minor allele frequency- C:0.00NS EA 418
    rs591096281,2
    C,F--85059628(+) CATGTA/CATCTG 1 -- us2k110Minor allele frequency- C:0.19NA WA CSA EA 371
    rs1477131661,2
    --85059718(+) GAATCA/TGACTC 1 -- us2k10--------
    rs1146966981,2
    F--85059719(+) AATCTG/AACTCT 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1425828591,2
    --85059856(+) CATCCA/GTCCTC 1 -- us2k10--------
    rs1502484101,2
    --85059872(+) TTCCCA/GTGAAT 1 -- us2k10--------
    rs1180934281,2
    F--85059938(+) AAAGCG/ATACCC 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1919232671,2
    --85059947(+) CCACTC/TGCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA0513 (85061375 - 85127836 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIAA0513 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671736CNV Deletion23128226
    esv273211CNV Insertion20981092
    nsv1912CNV Insertion18451855
    esv269266CNV Insertion20981092
    nsv907090CNV Loss21882294
    nsv907087CNV Loss21882294
    nsv520920CNV Loss19592680
    nsv907089CNV Loss21882294
    nsv907088CNV Gain21882294
    nsv907091CNV Gain21882294

    Human Gene Mutation Database (HGMD): KIAA0513
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0513
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0513

    (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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    OMIM gene information: 611675    OMIM disorders: --


    Find genes that share disorders with KIAA0513           About GenesLikeMe

    Genetic Association Database (GAD): KIAA0513
    Human Genome Epidemiology (HuGE) Navigator: KIAA0513 (1 document)

    Export disorders for KIAA0513 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 KIAA0513 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with KIAA0513)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. (PubMed id 17010949)1, 2 Lauriat T.L.... McInnes L.A. (Brain Res. 2006)
    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. (Genome Res. 2004)
    5. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. (PubMed id 22959728)1  ....Zheng J.G. (Neurobiol. Aging 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (Genome Res. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    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: 9764 HGNC: 29058 AceView: KIAA0513 Ensembl:ENSG00000135709 euGenes: HUgn9764
    ECgene: KIAA0513 H-InvDB: KIAA0513

    (According to HUGE)
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    HUGE: KIAA0513

    (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 KIAA0513 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 KIAA0513 gene:
    Search GeneIP for patents involving KIAA0513

    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
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