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    KIAA0232 KIAA0232 [ Homo sapiens (human) ]

    Gene ID: 9778, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KIAA0232provided by HGNC
    Official Full Name
    KIAA0232provided by HGNC
    Primary source
    HGNC:HGNC:28992
    See related
    Ensembl:ENSG00000170871 MIM:619237; AllianceGenome:HGNC:28992
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable ATP binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 12.8), heart (RPKM 11.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA0232 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6782727..6884164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6757716..6859144)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6784454..6885891)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:6718303-6718942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6728408-6728987 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:6733860-6735059 Neighboring gene Sharpr-MPRA regulatory region 12223 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6749910-6750687 Neighboring gene uncharacterized LOC105374367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6765388-6765903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6894345-6894901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6902995-6903643 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:6903699-6903925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6917519-6918483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6918484-6919448 Neighboring gene TBC1 domain family member 14 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:6937591-6937729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15241 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6941327-6941904 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6941905-6942482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6944645-6945470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6945471-6946296 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6946297-6947122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6961085-6961585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6972505-6973142 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6974420-6975057 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:6975058-6975696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6987679-6988438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6988439-6989198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21269 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7009000-7009638 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7009639-7010278 Neighboring gene RN7SK pseudogene 292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7017555-7018058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7018059-7018562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7023455-7024032 Neighboring gene uncharacterized LOC100129931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15244 Neighboring gene cilia and flagella associated protein 184

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. STK40 Is a Pseudokinase that Binds the E3 Ubiquitin Ligase COP1. Durzynska I, et al. Structure, 2017 Feb 7. PMID 28089446, Free PMC Article
    2. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Shameer K, et al. Hum Genet, 2014 Jan. PMID 24026423, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. Nagase T, et al. DNA Res, 1996 Oct 31. PMID 9039502
    4. New gene functions in megakaryopoiesis and platelet formation. Gieger C, et al. Nature, 2011 Nov 30. PMID 22139419, Free PMC Article
    5. DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169. Menon VR, et al. Cell Cycle, 2019 Mar. PMID 30773093, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein KIAA0232

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100590.2 → NP_001094060.1  uncharacterized protein KIAA0232

      See identical proteins and their annotated locations for NP_001094060.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC106045
      Consensus CDS
      CCDS43209.1
      UniProtKB/Swiss-Prot
      A7E2D2, Q92628
      UniProtKB/TrEMBL
      A5YKK5
      Related
      ENSP00000413739.1, ENST00000425103.5
      Conserved Domains (1) summary
      pfam15376
      Location:27 → 1298
      DUF4603; Domain of unknown function (DUF4603)

    2. NM_014743.3 → NP_055558.2  uncharacterized protein KIAA0232

      See identical proteins and their annotated locations for NP_055558.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC106045
      Consensus CDS
      CCDS43209.1
      UniProtKB/Swiss-Prot
      A7E2D2, Q92628
      UniProtKB/TrEMBL
      A5YKK5
      Related
      ENSP00000303928.5, ENST00000307659.6
      Conserved Domains (1) summary
      pfam15376
      Location:27 → 1298
      DUF4603; Domain of unknown function (DUF4603)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      6782727..6884164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416450.1 → XP_047272406.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    2. XM_047416446.1 → XP_047272402.1  uncharacterized protein KIAA0232 isoform X1

    3. XM_047416453.1 → XP_047272409.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    4. XM_047416442.1 → XP_047272398.1  uncharacterized protein KIAA0232 isoform X1

    5. XM_047416455.1 → XP_047272411.1  uncharacterized protein KIAA0232 isoform X3

    6. XM_047416452.1 → XP_047272408.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    7. XM_047416444.1 → XP_047272400.1  uncharacterized protein KIAA0232 isoform X1

    8. XM_047416451.1 → XP_047272407.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    9. XM_047416441.1 → XP_047272397.1  uncharacterized protein KIAA0232 isoform X1

    10. XM_047416449.1 → XP_047272405.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    11. XM_047416456.1 → XP_047272412.1  uncharacterized protein KIAA0232 isoform X6

    12. XM_047416443.1 → XP_047272399.1  uncharacterized protein KIAA0232 isoform X1

    13. XM_024454289.2 → XP_024310057.1  uncharacterized protein KIAA0232 isoform X1

      UniProtKB/TrEMBL
      A5YKK5
      Conserved Domains (1) summary
      pfam15376
      Location:27 → 1322
      DUF4603; Domain of unknown function (DUF4603)

    14. XM_047416454.1 → XP_047272410.1  uncharacterized protein KIAA0232 isoform X3

    15. XM_024454291.2 → XP_024310059.1  uncharacterized protein KIAA0232 isoform X6

      UniProtKB/TrEMBL
      A5YKK5
      Conserved Domains (1) summary
      pfam15376
      Location:27 → 1298
      DUF4603; Domain of unknown function (DUF4603)

    16. XM_047416447.1 → XP_047272403.1  uncharacterized protein KIAA0232 isoform X1

    17. XM_047416448.1 → XP_047272404.1  uncharacterized protein KIAA0232 isoform X1

    18. XM_047416445.1 → XP_047272401.1  uncharacterized protein KIAA0232 isoform X1

    19. XM_011513598.4 → XP_011511900.1  uncharacterized protein KIAA0232 isoform X4

      UniProtKB/TrEMBL
      A5YKK5
      Conserved Domains (1) summary
      pfam15376
      Location:15 → 1215
      DUF4603; Domain of unknown function (DUF4603)

    20. XM_024454290.2 → XP_024310058.1  uncharacterized protein KIAA0232 isoform X4

      UniProtKB/TrEMBL
      A5YKK5
      Conserved Domains (1) summary
      pfam15376
      Location:15 → 1215
      DUF4603; Domain of unknown function (DUF4603)

    21. XM_005248041.6 → XP_005248098.1  uncharacterized protein KIAA0232 isoform X5

      See identical proteins and their annotated locations for XP_005248098.1

      UniProtKB/TrEMBL
      A5YKK5
      Conserved Domains (1) summary
      pfam15376
      Location:12 → 1213
      DUF4603; Domain of unknown function (DUF4603)

    22. XM_047416457.1 → XP_047272413.1  uncharacterized protein KIAA0232 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      6757716..6859144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351316.1 → XP_054207291.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    2. XM_054351313.1 → XP_054207288.1  uncharacterized protein KIAA0232 isoform X1

    3. XM_054351319.1 → XP_054207294.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    4. XM_054351309.1 → XP_054207284.1  uncharacterized protein KIAA0232 isoform X1

    5. XM_054351321.1 → XP_054207296.1  uncharacterized protein KIAA0232 isoform X3

    6. XM_054351318.1 → XP_054207293.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    7. XM_054351311.1 → XP_054207286.1  uncharacterized protein KIAA0232 isoform X1

    8. XM_054351317.1 → XP_054207292.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    9. XM_054351308.1 → XP_054207283.1  uncharacterized protein KIAA0232 isoform X1

    10. XM_054351315.1 → XP_054207290.1  uncharacterized protein KIAA0232 isoform X2

      UniProtKB/Swiss-Prot
      A7E2D2, Q92628

    11. XM_054351326.1 → XP_054207301.1  uncharacterized protein KIAA0232 isoform X6

    12. XM_054351310.1 → XP_054207285.1  uncharacterized protein KIAA0232 isoform X1

    13. XM_054351307.1 → XP_054207282.1  uncharacterized protein KIAA0232 isoform X1

    14. XM_054351320.1 → XP_054207295.1  uncharacterized protein KIAA0232 isoform X3

    15. XM_054351325.1 → XP_054207300.1  uncharacterized protein KIAA0232 isoform X6

    16. XM_054351312.1 → XP_054207287.1  uncharacterized protein KIAA0232 isoform X1

    17. XM_054351314.1 → XP_054207289.1  uncharacterized protein KIAA0232 isoform X1

    18. XM_054351322.1 → XP_054207297.1  uncharacterized protein KIAA0232 isoform X4

    19. XM_054351323.1 → XP_054207298.1  uncharacterized protein KIAA0232 isoform X4

    20. XM_054351324.1 → XP_054207299.1  uncharacterized protein KIAA0232 isoform X5

    21. XM_054351327.1 → XP_054207302.1  uncharacterized protein KIAA0232 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92628.5 GenPept UniProtKB/Swiss-Prot:Q92628

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