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

KIAA1024 Gene

protein-coding   GIFtS: 43
GCID: GC15P079724

KIAA1024

 Explore 1 disease affiliated with
KIAA1024 via our new
 Human Malady Compendium 
Biological research products
for KIAA1024
    

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

Aliases
KIAA10241 2
UPF0258 Protein KIAA10242

External Ids:    HGNC: 291721   Entrez Gene: 232512   Ensembl: ENSG000001693307   UniProtKB: Q9UPX63   

Export aliases for KIAA1024 gene to outside databases

Previous GC identifers: GC15P075709 GC15P072905 GC15P077300 GC15P077440 GC15P077511 GC15P056483


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

  --

(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1024 gene promoter:
         HOXA9   HOXA9B   AML1a   Olf-1   Meis-1b   Arnt   FOXO1   Meis-1   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1024

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1024


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

Entrez Gene cytogenetic band: 15q25.1   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q25.1

KIAA1024 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1024 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P079724:  view genomic region     (about GC identifiers)

Start:
79,724,858 bp from pter      End:
79,764,642 bp from pter
Size:
39,785 bases      Orientation:
plus 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: K1024_HUMAN, Q9UPX6 (See protein sequence)
Recommended Name: UPF0258 protein KIAA1024  
Size: 916 amino acids; 102993 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=BAA82976.2; Type=Erroneous initiation;
Secondary accessions: A7MD43

Explore the universe of human proteins at neXtProt for KIAA1024: NX_Q9UPX6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPX6

  • KIAA1024 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056021.1  
    ENSEMBL proteins: 
     ENSP00000307461   ENSP00000454088  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    KIAA1024 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

    KIAA1024 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009626 UPF0258

    Graphical View of Domain Structure for InterPro Entry Q9UPX6

    ProtoNet protein and cluster: Q9UPX6

    UniProtKB/Swiss-Prot: K1024_HUMAN, Q9UPX6
    Similarity: Belongs to the UPF0258 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

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    (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 KIAA1024

    (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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    Search CenterWatch for drugs/clinical trials and news about KIAA1024 / K1024 

    (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,
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    About This Section

    REFSEQ mRNAs for KIAA1024 gene: 
    NM_015206.2  

    Unigene Cluster for KIAA1024:

    KIAA1024
    Hs.301654  [show with all ESTs]
    Unigene Representative Sequence: BC152466
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305428(uc002bew.1 uc010unk.1) ENST00000559272

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    Additional cDNA sequence: 

    AB028947.2 AF035294.1 AL110095.1 BC144700.1 BC152466.1 

    1 DOTS entry:

    DT.410930 

    24/25 AceView cDNA sequences (see all 25):

    BX485466 F13302 BX485465 AB028947 BM129225 AF035294 BX509345 BM129714 
    CK819641 F10900 BM129425 BQ787772 N54776 AI425065 BX099669 BM453711 
    H29603 BM713723 BQ434216 AL110095 AA310244 N45328 R18551 H29691 

    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™, 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

    KIAA1024 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAATTGGC

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

    About this image

    KIAA1024 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KIAA1024 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1024

    SOURCE GeneReport for Unigene cluster: Hs.301654
        SABiosciences Custom PCR Arrays for KIAA1024
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KIAA1024 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KIAA10241 KIAA1024 75.39(n)
    81.6(a)
      415485  NM_001007827.1  NP_001007828.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA10246
    --
    76(a)
    1 ↔ 1
    GL343332.1(351349-367233)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003315041 UPF0258 protein KIAA1024-like 63.42(n)
    62.22(a)
      100331504  XM_002667392.1  XP_002667438.1 


    ENSEMBL Gene Tree for KIAA1024 (if available)
    TreeFam Gene Tree for KIAA1024 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA1024 gene
    KIAA1024L2  

    KIAA1024 for paralogs           About GeneDecksing



    (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

    10/987 NCBI SNPs in KIAA1024 are shown (see all 987    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs342506471,2
    C,F,--56509728(+) GCACTC/-CAGCC 1 -- int14Minor allele frequency- -:0.38NA 8
    rs1511293851,2
    --79722996(+) GCAAGA/GTACAG 1 -- us2k10--------
    rs1401186691,2
    --79723155(+) CAACAC/TGTATC 1 -- us2k10--------
    rs1411252641,2
    C,--79723230(+) TTTTT-/AAAAAA 1 -- us2k10--------
    rs783617211,2
    C,F,--79723242(+) CTTTTT/CATTAG 1 -- us2k11Minor allele frequency- C:0.20EA 120
    rs1168585021,2
    F,--79723364(+) CTGAGA/GCTGAG 1 -- us2k11Minor allele frequency- G:0.08EA 120
    rs1907443041,2
    --79723382(+) TCCCCC/GCAGGG 1 -- us2k10--------
    rs802424611,2
    C,F,--79723400(+) TCCGAT/CCACAG 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1143269591,2
    F,--79723585(+) CCCCGA/GAACTA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs777582291,2
    C,F,--79723669(+) CCCCAG/ACCACA 1 -- us2k11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for KIAA1024 (79724858 - 79764642 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KIAA1024
         1 CNV: 72297
         1 Indel: 72296

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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

    KIAA1024 for disorders           About GeneDecksing

    1 disease for KIAA1024:    About MalaCards
    keratoconus

    1 disease from the University of Copenhagen DISEASES database for KIAA1024:
    Keratoconus

    Export disorders for KIAA1024 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 KIAA1024 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KIAA1024)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
    2. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. 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. (2002)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (1996)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23251 HGNC: 29172 AceView: KIAA1024 Ensembl:ENSG00000169330 euGenes: HUgn23251
    ECgene: KIAA1024 H-InvDB: KIAA1024

    (According to HUGE)
    About This Section
    HUGE: KIAA1024

    (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 KIAA1024 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 KIAA1024 gene:
    Search GeneIP for patents involving KIAA1024

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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