Sp110 Sp110 nuclear body protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sp110provided by MGI
Official Full Name: Sp110 nuclear body proteinprovided by MGI
Primary source: MGI:MGI:1923364
See related: Ensembl:ENSMUSG00000070034 AllianceGenome:MGI:1923364
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: Ipr1; 52kDa; Ifi75; 5031415C07Rik; 5830484A20Rik
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within positive regulation of apoptotic process and response to bacterium. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in central nervous system; early conceptus; genitourinary system; and thymus primordium. Human ortholog(s) of this gene implicated in hepatic venoocclusive disease with immunodeficiency and tuberculosis. Orthologous to human SP110 (SP110 nuclear body protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in thymus adult (RPKM 21.8), spleen adult (RPKM 17.2) and 14 other tissues See more
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Genomic context

Location:: 1 C5; 1 43.6 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (85498462..85538571, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (85570735..85610850, complement)

Chromosome 1 - NC_000067.7 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?

mechanistic studies revealed that an arginine/lysine-rich element within the DNA-binding domain (SAND domain) is critical for Ipr1 binding to the importin protein receptor NPI-1, demonstrating that this element plays an essential role in mediating the nuclear localization of Ipr1 protein
Title: The Arginine/Lysine-Rich Element within the DNA-Binding Domain Is Essential for Nuclear Localization and Function of the Intracellular Pathogen Resistance 1.
Using mouse models and genetic characteristics of human patients the role of SP110b was studied to determine its role in controlling host immunity and susceptibility to TB by modulating nuclear factor-kappaB (NF-kappaB) activity resulting in down regulation of TNF-alpha production and upregulation of NF-kappaB-induced antipoptotic gene expression suppressing IFN-gamma-mediated monocyte and/or macrophage cell death.
Title: SP110b Controls Host Immunity and Susceptibility to Tuberculosis.
These findings not only reveal the transcriptional basis of Sp110-mediated macrophage resistance to Mtb, but also suggest potential regulatory roles for Sp110 related to inflammatory responses, miRNA profiles, and the intracellular growth of Mtb.
Title: The Transcriptional Foundations of Sp110-mediated Macrophage (RAW264.7) Resistance to Mycobacterium tuberculosis H37Ra.
strain-specific promoter region polymorphism is associated with resistance to tuberculosis
Title: Characterization of promoter of the tuberculosis-resistant gene intracellular pathogen resistance 1.
mediates RAW 264.7 macrophage cell line resistance to Mycobacterium bovis
Title: Ipr1 gene mediates RAW 264.7 macrophage cell line resistance to Mycobacterium bovis.
Ipr1 might be involved in apoptosis pathway via MYBBP1A.
Title: MYBBP1A: a new Ipr1's binding protein in mice.
identification and analysis of the genes Sp100, Csprs, and Ifi75 in two members of the genus Mus, M. musculus and M. caroli
Title: Source and component genes of a 6-200 Mb gene cluster in the house mouse.
data indicate that the Ipr1 gene product might have a previously undocumented function in integrating signals generated by intracellular pathogens with mechanisms controlling innate immunity, cell death and pathogenesis
Title: Ipr1 gene mediates innate immunity to tuberculosis.

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Variation

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Alleles

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

Endonuclease-mediated (1) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to bacterium	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sp110 nuclear body protein

Names: interferon-induced protein 75, 52kD; intracellular pathogen resistance 1; intracellular pathogen resistance protein 1

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_030194.1 → NP_084470.1 sp110 nuclear body protein

See identical proteins and their annotated locations for NP_084470.1

Status: VALIDATED

Description

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

Source sequence(s)

AK019873, AK077800, BF662066, BY234698

Consensus CDS

CCDS35637.1

UniProtKB/Swiss-Prot

Q05D41, Q3UCV7, Q80V00, Q8BVK9

Related

ENSMUSP00000091226.7, ENSMUST00000093508.7

Conserved Domains (2) summary

pfam01342
Location:359 → 432

SAND; SAND domain

pfam03172
Location:11 → 105

Sp100; Sp100 domain
NM_175397.4 → NP_780606.3 sp110 nuclear body protein

See identical proteins and their annotated locations for NP_780606.3

Status: VALIDATED

Description

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

Source sequence(s)

AK077800, AK150373, BF662066, CJ077357

Consensus CDS

CCDS35637.1

UniProtKB/Swiss-Prot

Q05D41, Q3UCV7, Q80V00, Q8BVK9

Conserved Domains (2) summary

pfam01342
Location:359 → 432

SAND; SAND domain

pfam03172
Location:11 → 105

Sp100; Sp100 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

85498462..85538571 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011247901.4 → XP_011246203.1 sp110 nuclear body protein isoform X4

Conserved Domains (1) summary

pfam03172
Location:8 → 106

HSR; HSR domain
XM_011247899.3 → XP_011246201.1 sp110 nuclear body protein isoform X2

Conserved Domains (2) summary

pfam01342
Location:360 → 433

SAND; SAND domain

pfam03172
Location:8 → 106

HSR; HSR domain
XM_011247900.3 → XP_011246202.1 sp110 nuclear body protein isoform X3

Conserved Domains (2) summary

pfam03172
Location:8 → 106

HSR; HSR domain

cl02536
Location:363 → 384

SAND; SAND domain
XM_006529069.3 → XP_006529132.1 sp110 nuclear body protein isoform X1

See identical proteins and their annotated locations for XP_006529132.1

Conserved Domains (2) summary

pfam01342
Location:363 → 436

SAND; SAND domain

pfam03172
Location:8 → 106

HSR; HSR domain
XM_011247897.3 → XP_011246199.1 sp110 nuclear body protein isoform X1

See identical proteins and their annotated locations for XP_011246199.1

Conserved Domains (2) summary

pfam01342
Location:363 → 436

SAND; SAND domain

pfam03172
Location:8 → 106

HSR; HSR domain
XM_011247898.4 → XP_011246200.1 sp110 nuclear body protein isoform X1

See identical proteins and their annotated locations for XP_011246200.1

Conserved Domains (2) summary

pfam01342
Location:363 → 436

SAND; SAND domain

pfam03172
Location:8 → 106

HSR; HSR domain
XM_030255685.1 → XP_030111545.1 sp110 nuclear body protein isoform X1

Conserved Domains (2) summary

pfam01342
Location:363 → 436

SAND; SAND domain

pfam03172
Location:8 → 106

HSR; HSR domain