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

    Gene ID: 55196, updated on 3-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Towards effective and safe immunotherapy after allogeneic stem cell transplantation: identification of hematopoietic-specific minor histocompatibility antigen UTA2-1. Oostvogels R, et al. Leukemia, 2013 Mar. PMID 23079962, Free PMC Article
    2. Conserved expression of a novel gene during gonadal development. Hudson QJ, et al. Dev Dyn, 2005 Jul. PMID 15861396
    3. A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells. Fukuda K, et al. Genome Res, 2018 Jun. PMID 29728365, Free PMC Article
    4. Screening E3 substrates using a live phage display library. Guo Z, et al. PLoS One, 2013. PMID 24124579, Free PMC Article
    5. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA methylation-dependent heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA methylation-dependent heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of gamma-tubulin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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

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

    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_018169.4 → NP_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:670 → 1737
      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_011520722.2 → XP_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:670 → 1737
      DUF4617; Domain of unknown function (DUF4617)

    2. XM_017019550.3 → XP_016875039.1  retroelement silencing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RTU5, Q4KN17, Q9HCM1, Q9NVL6, Q9NWP9
      Conserved Domains (1) summary
      pfam15395
      Location:670 → 1737
      DUF4617; Domain of unknown function (DUF4617)

    3. XM_005253405.4 → XP_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:670 → 1737
      DUF4617; Domain of unknown function (DUF4617)

    4. XM_006719099.4 → XP_006719162.1  retroelement silencing factor 1 isoform X2

      Conserved Domains (1) summary
      pfam15395
      Location:670 → 1668
      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_054372391.1 → XP_054228366.1  retroelement silencing factor 1 isoform X1

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

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCM1.3 GenPept UniProtKB/Swiss-Prot:Q9HCM1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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