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    RESF1 retroelement silencing factor 1 [ Homo sapiens (human) ]

    Gene ID: 55196, updated on 14-Nov-2024

    Summary

    Official Symbol
    RESF1provided by HGNC
    Official Full Name
    retroelement silencing factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25559
    See related
    Ensembl:ENSG00000174718 MIM:615621; AllianceGenome:HGNC:25559
    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
    GET; UTA2-1; C12orf35; KIAA1551
    Summary
    Predicted to enable histone binding activity and histone methyltransferase binding activity. Predicted to be involved in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate and positive regulation of DNA methylation-dependent heterochromatin formation. Predicted to act upstream of or within response to bacterium. Predicted to be located in gamma-tubulin complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lymph node (RPKM 38.5), ovary (RPKM 35.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RESF1 in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (31959415..31993107)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (31835397..31869084)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32112349..32146041)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 98 member B pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32109971-32110470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32110474-32111267 Neighboring gene uncharacterized LOC105369725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32115989-32116489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6180 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:32146822-32146986 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:32166152-32166877 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32169109-32170104 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32170105-32171101 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:32174641-32175314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32175989-32176662 Neighboring gene Sharpr-MPRA regulatory region 8759 Neighboring gene MPRA-validated peak1660 silencer Neighboring gene MPRA-validated peak1661 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4334 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:32242366-32242866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32260751-32261388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32271849-32272465 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32273271-32273980 Neighboring gene BICD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32284941-32285442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6185 Neighboring gene BICD cargo adaptor 1 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32308728-32309229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32326137-32326651 Neighboring gene WW domain binding protein 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10652, FLJ20696

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone methyltransferase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in transposable element silencing by heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    retroelement silencing factor 1
    Names
    gonad expressed transcript
    uncharacterized protein C12orf35

    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_018169.4NP_060639.4  retroelement silencing factor 1

      Status: VALIDATED

      Source sequence(s)
      AC016957, AC023050
      Consensus CDS
      CCDS8725.2
      UniProtKB/Swiss-Prot
      B2RTU5, Q4KN17, Q9HCM1, Q9NVL6, Q9NWP9
      Related
      ENSP00000310338.4, ENST00000312561.9
      Conserved Domains (1) summary
      pfam15395
      Location:6701737
      DUF4617; Domain of unknown function (DUF4617)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      31959415..31993107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520722.2XP_011519024.1  retroelement silencing factor 1 isoform X1

      See identical proteins and their annotated locations for XP_011519024.1

      UniProtKB/Swiss-Prot
      B2RTU5, Q4KN17, Q9HCM1, Q9NVL6, Q9NWP9
      Conserved Domains (1) summary
      pfam15395
      Location:6701737
      DUF4617; Domain of unknown function (DUF4617)
    2. XM_017019550.3XP_016875039.1  retroelement silencing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RTU5, Q4KN17, Q9HCM1, Q9NVL6, Q9NWP9
      Conserved Domains (1) summary
      pfam15395
      Location:6701737
      DUF4617; Domain of unknown function (DUF4617)
    3. XM_005253405.4XP_005253462.1  retroelement silencing factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005253462.1

      UniProtKB/Swiss-Prot
      B2RTU5, Q4KN17, Q9HCM1, Q9NVL6, Q9NWP9
      Conserved Domains (1) summary
      pfam15395
      Location:6701737
      DUF4617; Domain of unknown function (DUF4617)
    4. XM_006719099.4XP_006719162.1  retroelement silencing factor 1 isoform X2

      Conserved Domains (1) summary
      pfam15395
      Location:6701668
      DUF4617; Domain of unknown function (DUF4617)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      31835397..31869084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372391.1XP_054228366.1  retroelement silencing factor 1 isoform X1

    2. XM_054372393.1XP_054228368.1  retroelement silencing factor 1 isoform X2

    3. XM_054372390.1XP_054228365.1  retroelement silencing factor 1 isoform X1

    4. XM_054372392.1XP_054228367.1  retroelement silencing factor 1 isoform X1