RTL10 retrotransposon Gag like 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RTL10provided by HGNC
Official Full Name: retrotransposon Gag like 10provided by HGNC
Primary source: HGNC:HGNC:26112
See related: Ensembl:ENSG00000215012 MIM:620751; AllianceGenome:HGNC:26112
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: BOP; C22orf29
Summary: Involved in mitochondrial outer membrane permeabilization and regulation of mitochondrial membrane potential. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 6.6), brain (RPKM 5.5) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q11.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19846146..19854874, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20223015..20231743, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19833669..19842397, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BH3-only protein expression determines hepatocellular carcinoma response to sorafenib-based treatment.
Title: BH3-only protein expression determines hepatocellular carcinoma response to sorafenib-based treatment.
The BH3-only proteins were required for apoptosis induced as a result of BCL-XL inhibition, this requirement was overcome when both BCL-XL and MCL-1 were inhibited, implicating distinct mechanisms by which different anti-apoptotic BCL-2 family members may regulate apoptosis in cancer.
Title: BH3-only proteins are dispensable for apoptosis induced by pharmacological inhibition of both MCL-1 and BCL-X(L).
Studies indicate that BH3-only protein (C22orf29 protein) plays an important role in activation and communication in apoptosis pathways.
Title: [Effect and significance of BH3-only protein in targeted therapy of  non-small cell lung cancer].
Members of the subfamily of BH3-only proteins function as proapoptotic triggers, and mimetics of these proteins are already in clinical trials in other cancers.
Title: BH3-only proteins: possible proapoptotic triggers for melanoma therapy.
Bop may be a novel BH3-only factor that can engage with the regulatory network of Bcl-2 family members to process intrinsic apoptotic signaling
Title: Human Bop is a novel BH3-only member of the Bcl-2 protein family.

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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

RH46328 (e-PCR)
- UniSTS:12301

SHGC-56622 (e-PCR)
- UniSTS:53005

D11S2560 (e-PCR)
- UniSTS:37928

STS-AA041293 (e-PCR)
- UniSTS:33432

WI-15274 (e-PCR)
- UniSTS:81073

RH103410 (e-PCR)
- UniSTS:97735

STS-T79756 (e-PCR)
- UniSTS:49873

D22S958 (e-PCR)
- UniSTS:259319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial outer membrane permeabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein Bop

Names: BH3-only protein; retrotransposon Gag-like protein 10

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.