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KIAA1522 Gene

protein-coding   GIFtS: 42
GCID: GC01P033207

KIAA1522

  See related disease
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
KIAA15221 2
Uncharacterized Protein KIAA15222

External Ids:    HGNC: 293011   Entrez Gene: 576482   Ensembl: ENSG000001625227   UniProtKB: Q9P2063   

Export aliases for KIAA1522 gene to outside databases

Previous GC identifers: GC01P033050 GC01P032186 GC01P032658 GC01P032722 GC01P032888 GC01P032980 GC01P031322


(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 KIAA1522 Gene:
KIAA1522 (KIAA1522) is a protein-coding gene. Diseases associated with KIAA1522 include cerebritis.


(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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1522 gene promoter:
         HFH-3   SREBP-1c   RelA   Nkx5-1   Tal-1beta   E47   SREBP-1b   FOXI1   SREBP-1a   LyF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1522

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1522


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

Entrez Gene cytogenetic band: 1p35.1   Ensembl cytogenetic band:  1p35.1   HGNC cytogenetic band: 1p35.1

KIAA1522 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1522 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P033207:  view genomic region     (about GC identifiers)

Start:
33,207,486 bp from pter      End:
33,240,571 bp from pter
Size:
33,086 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: K1522_HUMAN, Q9P206 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1522  
Size: 1035 amino acids; 107095 Da
Sequence caution: Sequence=BAA96046.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DQU8 B5MDY0 C9JH84 Q8TCQ0
Alternative splicing: 4 isoforms:  Q9P206-1   Q9P206-2   Q9P206-3   Q9P206-4   (Initiator Met-1 is removed. Contains a N-myristoyl glycine at position 2)

Explore the universe of human proteins at neXtProt for KIAA1522: NX_Q9P206

Explore proteomics data for KIAA1522 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA1522 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001185901.1  NP_001185902.1  NP_065939.2  

    ENSEMBL proteins: 
     ENSP00000383851   ENSP00000362580   ENSP00000294521   ENSP00000362579  

    KIAA1522 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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: Q9P206


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 KIAA1522
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    miRNA
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    miRTarBase miRNAs that target KIAA1522:
    hsa-mir-1 (MIRT024038), hsa-mir-335-5p (MIRT018868)

    Block miRNA regulation of human, mouse, rat KIAA1522 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA1522 (see all 87):
    hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-632 hsa-miR-502-3p hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1522 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1522

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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
    endoplasmic reticulum1
    plasma membrane1

    (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 KIAA1522
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1522

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

    3 Interacting proteins for KIAA1522 (ENSP000003838514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1ENSP000003809214STRING: ENSP00000380921
    NCK1ENSP000002889864STRING: ENSP00000288986
    SFRP1ENSP000002207724STRING: ENSP00000220772
    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 KIAA1522 (K1522)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIAA1522 gene (3 alternative transcripts): 
    NM_001198972.1  NM_001198973.1  NM_020888.2  

    Unigene Cluster for KIAA1522:

    KIAA1522
    Hs.591502  [show with all ESTs]
    Unigene Representative Sequence: NM_020888
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401073(uc001bvu.1) ENST00000468130 ENST00000373481(uc010ohm.1)
    ENST00000294521 ENST00000373480(uc001bvv.2 uc010ohn.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KIAA1522 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA1522 (see all 87):
    hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-30d hsa-miR-632 hsa-miR-502-3p hsa-miR-1304 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1522 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KIAA1522
    Predesigned siRNA for gene silencing in human, mouse, rat KIAA1522
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    OriGene ORF clones in mouse, rat for KIAA1522
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): KIAA1522 (NM_020888)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA1522
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1522
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA1522
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA1522
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA1522
      QuantiFast Probe-based Assays in human, mouse, rat KIAA1522

    Additional mRNA sequence: 

    AB040955.1 AK298965.1 AL713671.1 AL833933.1 BC020306.1 

    7 DOTS entries:

    DT.416870  DT.95335382  DT.92037531  DT.92462058  DT.121452394  DT.95267987  DT.97827425 

    Selected AceView cDNA sequences (see all 229):

    BM757206 BQ072116 AI741332 AA357655 BC020306 BQ024363 BU192527 BQ933230 
    Z45056 BM465670 CD674382 CB159861 AW572119 BG674824 BM985258 AI218557 
    CD674383 BQ958170 BI829869 AA304912 BM728167 AI017824 BM728155 T31316 

    GeneLoc Exon Structure


    (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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    KIAA1522 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAAACTG
    KIAA1522 Expression
    About this image


    KIAA1522 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    KIAA1522 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1522 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591502
        Custom PCR Arrays for KIAA1522
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA1522
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIAA1522
    QuantiTect SYBR Green Assays in human, mouse, rat KIAA1522
    QuantiFast Probe-based Assays in human, mouse, rat KIAA1522
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1522

    (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 KIAA1522 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C770801 , 5 expressed sequence C770801, 5 81.99(n)1
    82.24(a)1
      4 (63.11 cM)5
    971301  NM_001033189.31  NP_001028361.11 
     1292195785 
    chicken
    (Gallus gallus)
    Aves KIAA15226
    KIAA1522
    50(a)
    1 ↔ 1
    23(5208687-5215113)
    lizard
    (Anolis carolinensis)
    Reptilia KIAA15226
    KIAA1522
    50(a)
    1 ↔ 1
    GL343711.1(198830-209072)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa15221 KIAA1522 ortholog 54.56(n)
    52.77(a)
      100485399  XM_004911614.1  XP_004911671.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-194e15.56
    si:dkey-157l19.26
    si:dkey-157l19.2
    26(a)
    23(a)
    many → 1
    many → 1
    19(32141804-32208780) ENSDARG00000061804
    13(36391869-36436181) ENSDARG00000060340


    ENSEMBL Gene Tree for KIAA1522 (if available)
    TreeFam Gene Tree for KIAA1522 (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 KIAA1522 (see all 687)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394627241,2
    C--31320830(+) AACAA-/TATTTT 1 -- us2k10--------
    rs21849301,2
    C,F,H--31320882(+) gtctcC/Gaactc 1 -- us2k18Minor allele frequency- G:0.47NA WA 254
    rs1822329841,2
    --33205668(+) ACAGGC/TATGCA 1 -- us2k10--------
    rs74191921,2
    C--33205814(+) caccaG/Tgcctg 1 -- us2k10--------
    rs1472203701,2
    --33205832(+) TAACAC/TTTTTC 1 -- us2k10--------
    rs774222001,2
    C,F--33205917(+) TAGGCT/CGGGCC 1 -- us2k11Minor allele frequency- C:0.05EA 120
    rs1880456991,2
    --33206104(+) CTGAGC/GCCCTG 1 -- us2k10--------
    rs1932495991,2
    --33206107(+) AGCCCC/TTGGGG 1 -- us2k10--------
    rs1834360451,2
    --33206154(+) CTGCAC/TTCTAG 1 -- us2k10--------
    rs1884994471,2
    --33206201(+) GCGCCG/TGGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1522 (33207486 - 33240571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KIAA1522:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664118CNV Deletion23128226
    esv2657788CNV Deletion23128226
    esv2746552CNV Deletion23290073
    esv2746563CNV Deletion23290073
    nsv509158CNV Insertion20534489
    nsv519188CNV Loss19592680
    nsv322CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1522
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1522

    (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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    1 disease for KIAA1522:    
    About MalaCards
    cerebritis


    KIAA1522 for disorders           About GeneDecksing


    Export disorders for KIAA1522 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 KIAA1522 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with KIAA1522)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    4. 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)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. Strategy for comprehensive identification of human N-myristoylated proteins using an insect cell-free protein synthesis system. (PubMed id 20213681)2 Suzuki T.... Utsumi T. (Proteomics 2010)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. Proteins recruited by SH3 domains of Ruk/CIN85 adaptor identified by LC-MS/MS. (PubMed id 19531213)1 Havrylov S....Redowicz M.J. (Proteome Sci 2009)

    (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: 57648 HGNC: 29301 AceView: KIAA1522 Ensembl:ENSG00000162522 euGenes: HUgn57648
    ECgene: KIAA1522 H-InvDB: KIAA1522

    (According to HUGE)
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    HUGE: KIAA1522

    (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 KIAA1522 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 KIAA1522 gene:
    Search GeneIP for patents involving KIAA1522

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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