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    C18orf21 chromosome 18 open reading frame 21 [ Homo sapiens (human) ]

    Gene ID: 83608, updated on 10-Oct-2024

    Summary

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    Official Symbol
    C18orf21provided by HGNC
    Official Full Name
    chromosome 18 open reading frame 21provided by HGNC
    Primary source
    HGNC:HGNC:28802
    See related
    Ensembl:ENSG00000141428 AllianceGenome:HGNC:28802
    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
    Also known as
    XTP13; HsT3108; PNAS-124; PNAS-131
    Expression
    Ubiquitous expression in testis (RPKM 16.8), bone marrow (RPKM 16.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C18orf21 in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (35972679..35979278)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (36164179..36170780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33552642..33559241)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33522236-33522395 Neighboring gene microRNA 3929 Neighboring gene uncharacterized LOC105372066 Neighboring gene Sharpr-MPRA regulatory region 2053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33552432-33553324 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:33564018-33565217 Neighboring gene regulation of nuclear pre-mRNA domain containing 1A Neighboring gene Sharpr-MPRA regulatory region 15530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:33647245-33647760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33664612-33665166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:33666275-33666828 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33678780-33678940 Neighboring gene solute carrier family 39 member 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33709101-33709606

    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. Molecular complex detection in protein interaction networks through reinforcement learning. Palukuri MV, et al. BMC Bioinformatics, 2023 Aug 2. PMID 37532987, Free PMC Article
    2. Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. Behr ER, et al. PLoS One, 2013. PMID 24223155, Free PMC Article
    3. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
    4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    5. Mapping the MOB proteins' proximity network reveals a unique interaction between human MOB3C and the RNase P complex. Elkholi IE, et al. J Biol Chem, 2023 Sep. PMID 37536630, 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
    Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of chromosome 18 open reading frame 21 (C18orf21) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131953

    General protein information

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    Preferred Names
    UPF0711 protein C18orf21
    Names
    HBV X-transactivated gene 13 protein
    HBV X-transactivated protein 13
    HBV XAg-transactivated protein 13

    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_001201474.2 → NP_001188403.1  UPF0711 protein C18orf21 isoform b

      See identical proteins and their annotated locations for NP_001188403.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AA648431, AW967900, BC108730, W84353
      Consensus CDS
      CCDS56064.1
      UniProtKB/TrEMBL
      L7N2F3
      Related
      ENSP00000480486.1, ENST00000610527.4
      Conserved Domains (1) summary
      pfam15719
      Location:1 → 126
      DUF4674; Domain of unknown function (DUF4674)

    2. NM_001201475.2 → NP_001188404.1  UPF0711 protein C18orf21 isoform b

      See identical proteins and their annotated locations for NP_001188404.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AA648431, BC025950, BC108730, W84353
      Consensus CDS
      CCDS56064.1
      UniProtKB/TrEMBL
      L7N2F3
      Related
      ENSP00000329492.5, ENST00000333234.5
      Conserved Domains (1) summary
      pfam15719
      Location:1 → 126
      DUF4674; Domain of unknown function (DUF4674)

    3. NM_001201476.2 → NP_001188405.1  UPF0711 protein C18orf21 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      DN991579, W84353
      Consensus CDS
      CCDS74212.1
      UniProtKB/TrEMBL
      A0A087X0E7
      Related
      ENSP00000483334.1, ENST00000618334.1
      Conserved Domains (1) summary
      pfam15719
      Location:27 → 100
      DUF4674; Domain of unknown function (DUF4674)

    4. NM_031446.5 → NP_113634.3  UPF0711 protein C18orf21 isoform a

      See identical proteins and their annotated locations for NP_113634.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA648431, BC108730
      Consensus CDS
      CCDS11916.2
      UniProtKB/Swiss-Prot
      Q32NC0, Q6GW03, Q9BXV6, Q9BXW2
      UniProtKB/TrEMBL
      Q8TBS0
      Related
      ENSP00000465517.1, ENST00000592875.6
      Conserved Domains (1) summary
      pfam15719
      Location:27 → 214
      DUF4674; Domain of unknown function (DUF4674)

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      35972679..35979278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258364.6 → XP_005258421.1  UPF0711 protein C18orf21 isoform X1

      UniProtKB/TrEMBL
      Q8TBS0
      Conserved Domains (1) summary
      pfam15719
      Location:33 → 220
      DUF4674; Domain of unknown function (DUF4674)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      36164179..36170780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319255.1 → XP_054175230.1  UPF0711 protein C18orf21 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32NC0.1 GenPept UniProtKB/Swiss-Prot:Q32NC0

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