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

Summary

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, Dec 2024]
Orthologs: all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7503 (e-PCR)
- UniSTS:1798

Cda0xg09 (e-PCR)
- UniSTS:87073

A002L20 (e-PCR)
- UniSTS:5849

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.