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    RTL8A retrotransposon Gag like 8A [ Homo sapiens (human) ]

    Gene ID: 26071, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RTL8Aprovided by HGNC
    Official Full Name
    retrotransposon Gag like 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:24514
    See related
    Ensembl:ENSG00000203950 AllianceGenome:HGNC:24514
    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
    CXX1b; MAR8A; SIRH6; FAM127B
    Expression
    Ubiquitous expression in ovary (RPKM 21.7), fat (RPKM 19.6) and 25 other tissues See more
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    Genomic context

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    See RTL8A in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135050932..135052135, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133376299..133377502, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (134184962..134186165, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes 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 retrotransposon Gag like 8C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:134184927-134185713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29979 Neighboring gene nucleolin pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21018 Neighboring gene small integral membrane protein 10 like 2B

    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. 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
    2. 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
    3. 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
    4. A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes. Brandt J, et al. Cytogenet Genome Res, 2005. PMID 16093683
    5. HAPSTR1 localizes HUWE1 to the nucleus to limit stress signaling pathways. Monda JK, et al. Cell Rep, 2023 May 30. PMID 37167062, Free PMC Article

    See all (18) 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.
    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

    • MGC8471, DKFZp564B147

    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 8A
    Names
    Sushi-Ichi retrotransposon homolog 6
    family with sequence similarity 127 member B
    mammalian retrotransposon derived protein 8A
    mammalian retrotransposon-derived 8A
    protein FAM127B

    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_001078172.2 → NP_001071640.1  retrotransposon Gag-like protein 8A isoform 1

      See identical proteins and their annotated locations for NP_001071640.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is intronless and encodes the longer isoform (1).
      Source sequence(s)
      AL136169
      Consensus CDS
      CCDS43998.1
      UniProtKB/Swiss-Prot
      A2A2V9, Q8TBU2, Q9BWD3
      Related
      ENSP00000375267.1, ENST00000370775.3
      Conserved Domains (1) summary
      pfam16297
      Location:2 → 113
      DUF4939; Domain of unknown function (DUF4939)

    2. NM_001134321.2 → NP_001127793.1  retrotransposon Gag-like protein 8A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal segment, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      BC000393, CN367136
      UniProtKB/TrEMBL
      Q6IPB9
      Related
      ENST00000522309.1
      Conserved Domains (1) summary
      pfam16297
      Location:2 → 64
      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
      135050932..135052135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133376299..133377502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015582.2: Suppressed sequence

      Description
      NM_015582.2: This RefSeq was permanently suppressed because it contains the wrong CDS.

    2. NR_002732.1: Suppressed sequence

      Description
      NR_002732.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BWD3.3 GenPept UniProtKB/Swiss-Prot:Q9BWD3

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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