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ERVFRD-1 endogenous retrovirus group FRD member 1, envelope [ Homo sapiens (human) ]

Gene ID: 405754, updated on 15-Apr-2019

Summary

Official Symbol
ERVFRD-1provided by HGNC
Official Full Name
endogenous retrovirus group FRD member 1, envelopeprovided by HGNC
Primary source
HGNC:HGNC:33823
See related
Ensembl:ENSG00000244476 MIM:610524
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
envFRD; UNQ6191; ERVFRDE1; GLLL6191; HERV-FRD; HERV-W/FRD
Summary
Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]
Expression
Biased expression in placenta (RPKM 15.8) and lung (RPKM 0.4) See more
Orthologs

Genomic context

See ERVFRD-1 in Genome Data Viewer
Location:
6p24.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (11102489..11111838, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (11102722..11112071, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ELOVL fatty acid elongase 2 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene small integral membrane protein 13 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9 Neighboring gene uncharacterized LOC105374925 Neighboring gene uncharacterized LOC112267953

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41944, FLJ90611, MGC87585

Gene Ontology Provided by GOA

Process Evidence Code Pubs
syncytium formation IDA
Inferred from Direct Assay
more info
PubMed 
syncytium formation by plasma membrane fusion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
syncytin-2
Names
HERV-FRD provirus ancestral Env polyprotein
HERV-FRD_6p24.1 provirus ancestral Env polyprotein
endogenous retrovirus group FRD member 1
envelope polyprotein
syncytin 2

NCBI Reference Sequences (RefSeq)

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_207582.3NP_997465.1  syncytin-2 preproprotein

    See identical proteins and their annotated locations for NP_997465.1

    Status: VALIDATED

    Source sequence(s)
    AL136139, BC068585
    Consensus CDS
    CCDS4519.1
    UniProtKB/Swiss-Prot
    P60508
    Related
    ENSP00000420174.1, ENST00000472091.2
    Conserved Domains (1) summary
    pfam00429
    Location:296486
    TLV_coat; ENV polyprotein (coat polyprotein)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    11102489..11111838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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