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

Gene ID: 90625, updated on 5-Mar-2024

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
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Genomic context

See ERVH48-1 in Genome Data Viewer
Location:
21q22.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (42916803..42925630, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41305288..41314120, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44336913..44345740, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene WD repeat domain 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44298675-44299639 Neighboring gene uncharacterized LOC105372817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13354 Neighboring gene NADH:ubiquinone oxidoreductase subunit V3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44334874-44335381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44335382-44335888 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44345875-44346396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44346397-44346918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44348205-44348758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44348759-44349310 Neighboring gene uncharacterized LOC124905022 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44356879-44357537 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44357538-44358195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44358196-44358854 Neighboring gene uncharacterized LOC124905023 Neighboring gene microRNA 5692b

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

General gene information

Markers

Clone Names

  • AP001629.8

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

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.

mRNA and Protein(s)

  1. NM_001308491.2NP_001295420.1  suppressyn precursor

    See identical proteins and their annotated locations for NP_001295420.1

    Status: REVIEWED

    Source sequence(s)
    AP001629
    Consensus CDS
    CCDS93101.1
    UniProtKB/Swiss-Prot
    M5A8F1
    Related
    ENSP00000504647.1, ENST00000447535.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    42916803..42925630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    41305288..41314120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)