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

Gene ID: 8933, updated on 5-Mar-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, Apr 2022]
Orthologs
all
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Genomic context

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Location:
Xq26.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135032355..135033546)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133357722..133358913)
105.20220307 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

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_2023_10

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
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