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

    Gene ID: 83608, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See C18orf21 in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (35971878..35979287)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33552588..33559250)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene microRNA 187 Neighboring gene microRNA 3929 Neighboring gene uncharacterized LOC105372066 Neighboring gene Sharpr-MPRA regulatory region 2053 Neighboring gene regulation of nuclear pre-mRNA domain containing 1A Neighboring gene solute carrier family 39 member 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
    NHGRI GWA Catalog

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC131953

    General protein information

    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)

    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_001201474.1NP_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/Swiss-Prot
      Q32NC0
      UniProtKB/TrEMBL
      W4VSQ2
      Related
      ENSP00000480486.1, ENST00000610527.4
      Conserved Domains (1) summary
      pfam15719
      Location:1126
      DUF4674; Domain of unknown function (DUF4674)
    2. NM_001201475.1NP_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/Swiss-Prot
      Q32NC0
      UniProtKB/TrEMBL
      W4VSQ2
      Related
      ENSP00000329492.5, ENST00000333234.5
      Conserved Domains (1) summary
      pfam15719
      Location:1126
      DUF4674; Domain of unknown function (DUF4674)
    3. NM_001201476.1NP_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)
      AA648431, DN991579, W84353
      Consensus CDS
      CCDS74212.1
      UniProtKB/TrEMBL
      A0A087X0E7
      Related
      ENSP00000483334.1, ENST00000618334.1
      Conserved Domains (1) summary
      pfam15719
      Location:27100
      DUF4674; Domain of unknown function (DUF4674)
    4. NM_031446.5NP_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
      Related
      ENSP00000465517.1, ENST00000592875.6
      Conserved Domains (1) summary
      pfam15719
      Location:27214
      DUF4674; Domain of unknown function (DUF4674)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      35971878..35979287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258364.5XP_005258421.1  UPF0711 protein C18orf21 isoform X1

      Conserved Domains (1) summary
      pfam15719
      Location:33220
      DUF4674; Domain of unknown function (DUF4674)
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