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    RTL8C retrotransposon Gag like 8C [ Homo sapiens (human) ]

    Gene ID: 8933, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RTL8Cprovided by HGNC
    Official Full Name
    retrotransposon Gag like 8Cprovided by HGNC
    Primary source
    HGNC:HGNC:2569
    See related
    Ensembl:ENSG00000134590 MIM:300213; AllianceGenome:HGNC:2569
    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
    CXX1; Mar8; MAR8C; Mart8; SIRH5; MART8C; FAM127A
    Summary
    Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Orthologs
    all
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    Genomic context

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    See RTL8C in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135032355..135033546)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133357722..133358913)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (134166385..134167576)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:134138102-134138612 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:134138613-134139121 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:134156026-134156526 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:134156527-134157027 Neighboring gene retrotransposon Gag like 8B Neighboring gene NANOG hESC enhancer GRCh37_chrX:134164366-134164867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:134184927-134185713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29979 Neighboring gene retrotransposon Gag like 8A Neighboring gene nucleolin pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Evaluation of expression level and methylation profile of CXX1 gene in breast cancer tissue blocks. Mohammadi Z, et al. J Cancer Res Ther, 2021 Oct-Dec. PMID 34916361
    2. Sequence-Selective Covalent CaaX-Box Receptors Prevent Farnesylation of Oncogenic Ras Proteins and Impact MAPK/PI3 K Signaling. Franz M, et al. ChemMedChem, 2021 Aug 19. PMID 33899342, Free PMC Article
    3. A low-copy repeat in Xq26 represents a novel putatively prenylated protein gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and DXS9916). Frattini A, et al. Genomics, 1997 Nov 15. PMID 9403077
    4. RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control. Mohan HM, et al. Cell Mol Life Sci, 2022 Mar 5. PMID 35247097, Free PMC Article
    5. Transposable elements as a source of genetic innovation: expression and evolution of a family of retrotransposon-derived neogenes in mammals. Brandt J, et al. Gene, 2005 Jan 17. PMID 15716091

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control.
      Title: RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control.
    2. Evaluation of expression level and methylation profile of CXX1 gene in breast cancer tissue blocks.
      Title: Evaluation of expression level and methylation profile of CXX1 gene in breast cancer tissue blocks.
    3. Sequence-Selective Covalent CaaX-Box Receptors Prevent Farnesylation of Oncogenic Ras Proteins and Impact MAPK/PI3 K Signaling.
      Title: Sequence-Selective Covalent CaaX-Box Receptors Prevent Farnesylation of Oncogenic Ras Proteins and Impact MAPK/PI3 K Signaling.
    Submit: New GeneRIF Correction

    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

    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

    Clone Names

    • MGC117411

    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
    retrotransposon Gag-like protein 8C
    Names
    CAAX box 1
    Sushi-Ichi retrotransposon homolog 5
    family with sequence similarity 127 member A
    mammalian retrotransposon derived protein 8C
    mammalian retrotransposon-derived 8C
    protein FAM127A
    retrotransposon Gag-like protein 8B

    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_001078171.2 → NP_001071639.1  retrotransposon Gag-like protein 8C

      See identical proteins and their annotated locations for NP_001071639.1

      Status: VALIDATED

      Source sequence(s)
      BC002385, CD367165, CX784259
      Consensus CDS
      CCDS43997.1
      UniProtKB/Swiss-Prot
      A6ZKI3
      Related
      ENSP00000257013.7, ENST00000257013.9
      Conserved Domains (1) summary
      pfam16297
      Location:2 → 113
      DUF4939; Domain of unknown function (DUF4939)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      135032355..135033546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133357722..133358913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003928.1: Suppressed sequence

      Description
      NM_003928.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6ZKI3.1 GenPept UniProtKB/Swiss-Prot:A6ZKI3

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools