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

Gene ID: 55196, updated on 7-Jan-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 assembly. Predicted to act upstream of or within response to bacterium. Predicted to be located in nucleus. Predicted to colocalize with gamma-tubulin complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lymph node (RPKM 38.5), ovary (RPKM 35.0) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (31959415..31993107)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (31835397..31869084)
105.20220307 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
  • 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 
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

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_018169.4NP_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_2023_10

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