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

    Gene ID: 90625, updated on 9-Dec-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
    NEW
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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_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_000021.9Genomic 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)

    NEW Try the new Transcript table

    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_2024_08

    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)