Resf1 retroelement silencing factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Resf1provided by MGI
Official Full Name: retroelement silencing factor 1provided by MGI
Primary source: MGI:MGI:1914496
See related: Ensembl:ENSMUSG00000032712 AllianceGenome:MGI:1914496
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GET; 2810474O19Rik; 6720435I21Rik
Summary: Enables histone methyltransferase binding activity. Involved in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate and positive regulation of DNA methylation-dependent heterochromatin assembly. Acts upstream of or within response to bacterium. Located in nucleus. Part of gamma-tubulin complex. Is expressed in limb; reproductive system; somite; and urinary system. Orthologous to human RESF1 (retroelement silencing factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 4.3), ovary adult (RPKM 3.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6; 6 G3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (149210907..149237161)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (149309409..149335663)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Resf1 reduces the efficiency of embryonic stem cell self-renewal and germline entry.
Title: Loss of <i>Resf1</i> reduces the efficiency of embryonic stem cell self-renewal and germline entry.
We characterized two factors, MORC2A and RESF1, of which RESF1 is a novel molecule in retroelement silencing. Although both factors are recruited to repress provirus, their roles in repression are different. MORC2A appears to function dependent on repressive epigenetic modifications, while RESF1 regulates repressive epigenetic modifications associated with SETDB1
Title: A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BE105191 (e-PCR)
- UniSTS:245769

NoName (e-PCR)
- UniSTS:235581

RH124542 (e-PCR)
- UniSTS:161364

2810474O19Rik (e-PCR), detects polymorphism
- UniSTS:527225

RH136339 (e-PCR)
- UniSTS:210329

BE628502 (e-PCR)
- UniSTS:208055

UniSTS:471005 (e-PCR)
- UniSTS:471005

2810474O19Rik (e-PCR), detects polymorphism
- UniSTS:471005

Homology

Homologs of the Resf1 gene: The Resf1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, and rat.
Orthologs from Annotation Pipeline: 326 organisms have orthologs with human gene Resf1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables histone methyltransferase binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables histone methyltransferase 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA methylation-dependent heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of DNA methylation-dependent heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of gamma-tubulin complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: retroelement silencing factor 1

Names: likely orthologue of H. sapiens chromosome 12 open reading frame 35 (C12orf35); uncharacterized protein C12orf35 homolog

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)

NM_001289661.1 → NP_001276590.1 retroelement silencing factor 1

See identical proteins and their annotated locations for NP_001276590.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC163647, AK020121, BC139436, DV644998

Consensus CDS

CCDS20717.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Related

ENSMUSP00000098328.5, ENSMUST00000100765.11

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
NM_001289662.1 → NP_001276591.1 retroelement silencing factor 1

See identical proteins and their annotated locations for NP_001276591.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC163647, AK020121, BC139435, DV644998

Consensus CDS

CCDS20717.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Related

ENSMUSP00000140026.2, ENSMUST00000189932.7

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
NM_026054.3 → NP_080330.1 retroelement silencing factor 1

See identical proteins and their annotated locations for NP_080330.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC163647, AK017376, AK020121, BC139436, DV644998

Consensus CDS

CCDS20717.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Related

ENSMUSP00000041180.7, ENSMUST00000046689.13

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

149210907..149237161

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507083.4 → XP_006507146.1 retroelement silencing factor 1 isoform X1

See identical proteins and their annotated locations for XP_006507146.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
XM_006507081.5 → XP_006507144.1 retroelement silencing factor 1 isoform X1

See identical proteins and their annotated locations for XP_006507144.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
XM_006507086.5 → XP_006507149.1 retroelement silencing factor 1 isoform X2

See identical proteins and their annotated locations for XP_006507149.1

Conserved Domains (1) summary

pfam15395
Location:452 → 1470

DUF4617; Domain of unknown function (DUF4617)
XM_011241622.3 → XP_011239924.1 retroelement silencing factor 1 isoform X1

See identical proteins and their annotated locations for XP_011239924.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
XM_036152270.1 → XP_036008163.1 retroelement silencing factor 1 isoform X1

UniProtKB/Swiss-Prot

Q9CU82

UniProtKB/TrEMBL

B2KFD2

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
XM_006507084.4 → XP_006507147.1 retroelement silencing factor 1 isoform X1

See identical proteins and their annotated locations for XP_006507147.1

UniProtKB/Swiss-Prot

Q5DTW7, Q9CU82

UniProtKB/TrEMBL

B2KFD2

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)
XM_030255554.2 → XP_030111414.1 retroelement silencing factor 1 isoform X1

UniProtKB/Swiss-Prot

Q9CU82

UniProtKB/TrEMBL

B2KFD2

Related

ENSMUSP00000139660.2, ENSMUST00000189837.2

Conserved Domains (1) summary

pfam15395
Location:452 → 1511

DUF4617; Domain of unknown function (DUF4617)