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

Gene ID: 55196, updated on 5-Aug-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (31959415..31993107)
110 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 uncharacterized LOC105369725 Neighboring gene Sharpr-MPRA regulatory region 8759 Neighboring gene BICD cargo adaptor 1 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

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    Q9NWP9
    Related
    ENSP00000310338.4, ENST00000312561.9
    Conserved Domains (1) summary
    pfam15395
    Location:6701737
    DUF4617; Domain of unknown function (DUF4617)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q9HCM1, 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
    Q9HCM1, 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
    Q9HCM1, 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)