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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.

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