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

Gene ID: 405754, updated on 22-Apr-2017
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; Vega:OTTHUMG00000159193
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]
Orthologs
Location:
6p24.2
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 LOC107986565

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
viral envelope IEA
Inferred from Electronic Annotation
more info
 
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

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_207582.2NP_997465.1  syncytin-2 preproprotein

    See identical proteins and their annotated locations for NP_997465.1

    Status: VALIDATED

    Source sequence(s)
    AL136139, BC068585, DA863475
    Consensus CDS
    CCDS4519.1
    UniProtKB/Swiss-Prot
    P60508
    Related
    ENSP00000420174.1, OTTHUMP00000214319, ENST00000472091.1, OTTHUMT00000353776
    Conserved Domains (1) summary
    cd09851
    Location:380456
    HTLV-1-like_HR1-HR2; heptad repeat 1-heptad repeat 2 region (ectodomain) of the transmembrane subunit of human T-cell leukemia virus type 1 (HTLV-1), and related domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    11104822..11114171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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