ERVH48-1 endogenous retrovirus group 48 member 1, envelope [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERVH48-1provided by HGNC
Official Full Name: endogenous retrovirus group 48 member 1, envelopeprovided by HGNC
Primary source: HGNC:HGNC:17216
See related: Ensembl:ENSG00000233056 AllianceGenome:HGNC:17216
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SUPYN; C21orf105; NDUFV3-AS1
Summary: Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]
Expression: Restricted expression toward placenta (RPKM 102.6) See more
Orthologs: all
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Genomic context

Location:: 21q22.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (42916803..42925630, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (41305288..41314120, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (44336913..44345740, complement)

Chromosome 21 - NC_000021.9 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?

Controlling Trophoblast Cell Fusion in the Human Placenta-Transcriptional Regulation of Suppressyn, an Endogenous Inhibitor of Syncytin-1.
Title: Controlling Trophoblast Cell Fusion in the Human Placenta-Transcriptional Regulation of Suppressyn, an Endogenous Inhibitor of Syncytin-1.

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Phenotypes

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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)

General gene information

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Markers

G20624 (e-PCR)
- UniSTS:60536

A005Z22 (e-PCR)
- UniSTS:60537

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 syncytium formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: suppressyn

Names: NDUFV3 antisense RNA 1 (non-protein coding); endogenous retrovirus group 48, member 1; endogenous retrovirus group Fb member 1; suppresyn

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.