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    KIAA1143 KIAA1143 [ Homo sapiens (human) ]

    Gene ID: 57456, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KIAA1143provided by HGNC
    Official Full Name
    KIAA1143provided by HGNC
    Primary source
    HGNC:HGNC:29198
    See related
    Ensembl:ENSG00000163807 AllianceGenome:HGNC:29198
    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
    Expression
    Ubiquitous expression in ovary (RPKM 11.8), thyroid (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA1143 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44748744..44761619, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44764418..44777307, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (44790236..44803111, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377056 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:44761628-44762827 Neighboring gene zinc finger protein 502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19770 Neighboring gene zinc finger protein 501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44801624-44802266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19771 Neighboring gene kinesin family member 15 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19772 Neighboring gene microRNA 564 Neighboring gene transmembrane protein 42

    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
    • 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. The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome. Gunawardana CG, et al. Mol Cell Proteomics, 2015 Nov. PMID 26269332, Free PMC Article
    2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    3. TXLNA enhances TBK1 phosphorylation by suppressing PPM1B recruitment. Tian X, et al. Biochim Biophys Acta Mol Cell Res, 2023 Oct. PMID 37506885
    4. HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137. Zhang F, et al. Elife, 2020 Jun 15. PMID 32538781, Free PMC Article
    5. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. Elzi DJ, et al. J Proteome Res, 2014 Aug 1. PMID 24999758, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein KIAA1143

    NCBI Reference Sequences (RefSeq)

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    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_001320334.2 → NP_001307263.1  uncharacterized protein KIAA1143 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC098649, BU741967, CD049061, DB238094
      Conserved Domains (1) summary
      pfam15377
      Location:5 → 84
      DUF4604; Domain of unknown function (DUF4604)

    2. NM_020696.4 → NP_065747.1  uncharacterized protein KIAA1143 isoform 1

      See identical proteins and their annotated locations for NP_065747.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC098649, BC008468, BU741967, DA192476
      Consensus CDS
      CCDS2721.1
      UniProtKB/Swiss-Prot
      A8K0I4, Q96AT1, Q96HJ8, Q9ULS7
      Related
      ENSP00000296121.4, ENST00000296121.6
      Conserved Domains (1) summary
      pfam15377
      Location:5 → 150
      DUF4604; Domain of unknown function (DUF4604)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      44748744..44761619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646197.1 Reference GRCh38.p14 PATCHES

      Range
      274094..286969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      44764418..44777307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AT1.2 GenPept UniProtKB/Swiss-Prot:Q96AT1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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