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Aliases for SP110 Gene

Aliases for SP110 Gene

  • SP110 Nuclear Body Protein 2 3
  • Interferon-Induced Protein 41, 30kD 2 3
  • Transcriptional Coactivator Sp110 3 4
  • Interferon-Induced Protein 41/75 3 4
  • Speckled 110 KDa 3 4
  • Interferon-Induced Protein 75, 52kD 3
  • Interferon-Induced Protein 75 6
  • Phosphoprotein 41 3
  • Phosphoprotein 75 3
  • IFI41 3
  • IFI75 3
  • 52kD) 6
  • IPR1 3
  • VODI 3

External Ids for SP110 Gene

Previous Symbols for SP110 Gene

  • IFI41
  • IFI75

Summaries for SP110 Gene

Entrez Gene Summary for SP110 Gene

  • The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for SP110 Gene

SP110 (SP110 Nuclear Body Protein) is a Protein Coding gene. Diseases associated with SP110 include hepatic venoocclusive disease with immunodeficiency and tuberculosis. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is SP140L.

UniProtKB/Swiss-Prot for SP110 Gene

  • Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE)

Gene Wiki entry for SP110 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP110 Gene

Genomics for SP110 Gene

Genomic Location for SP110 Gene

Start:
230,167,293 bp from pter
End:
230,225,729 bp from pter
Size:
58,437 bases
Orientation:
Minus strand

Genomic View for SP110 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SP110 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP110 Gene

Regulatory Elements for SP110 Gene

Transcription factor binding sites by QIAGEN in the SP110 gene promoter:

Proteins for SP110 Gene

  • Protein details for SP110 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB58-SP110_HUMAN
    Recommended name:
    Sp110 nuclear body protein
    Protein Accession:
    Q9HB58
    Secondary Accessions:
    • B4DVI4
    • F5H1M1
    • Q14976
    • Q14977
    • Q53TG2
    • Q8WUZ6
    • Q9HCT8

    Protein attributes for SP110 Gene

    Size:
    689 amino acids
    Molecular mass:
    78396 Da
    Quaternary structure:
    • Isoform 3 interacts with HCV core protein.
    SequenceCaution:
    • Sequence=AAF99318.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAG09826.1; Type=Frameshift; Positions=141, 143; Evidence={ECO:0000305}; Sequence=AK026488; Type=Frameshift; Positions=296, 542, 567; Evidence={ECO:0000305};

    Alternative splice isoforms for SP110 Gene

neXtProt entry for SP110 Gene

Proteomics data for SP110 Gene at MOPED

Post-translational modifications for SP110 Gene

No data available for DME Specific Peptides for SP110 Gene

Domains for SP110 Gene

UniProtKB/Swiss-Prot:

SP110_HUMAN
Domain:
  • Contains 1 bromo domain.:
    • Q9HB58
  • Contains 1 HSR domain.:
    • Q9HB58
  • Contains 1 SAND domain.:
    • Q9HB58
Similarity:
  • Contains 1 PHD-type zinc finger.:
    • Q9HB58
genes like me logo Genes that share domains with SP110: view

No data available for Gene Families for SP110 Gene

Function for SP110 Gene

Molecular function for SP110 Gene

UniProtKB/Swiss-Prot Function: Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE)
UniProtKB/Swiss-Prot Induction: By IFNG/IFN-gamma and all-trans retinoic acid (ATRA)

Gene Ontology (GO) - Molecular Function for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
GO:0004871 signal transducer activity TAS 7693701
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with SP110: view

Phenotypes for SP110 Gene

genes like me logo Genes that share phenotypes with SP110: view

miRNA for SP110 Gene

miRTarBase miRNAs that target SP110

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SP110 Gene

Localization for SP110 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP110 Gene

Nucleus. Note=Found in the nuclear body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SP110 Gene COMPARTMENTS Subcellular localization image for SP110 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SP110: view

Pathways for SP110 Gene

SuperPathways for SP110 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IBA --
GO:0007165 signal transduction TAS 7693701
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with SP110: view

No data available for Pathways by source for SP110 Gene

Transcripts for SP110 Gene

Unigene Clusters for SP110 Gene

SP110 nuclear body protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SP110 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a ·
SP1: - - -
SP2: - - - -
SP3:
SP4: -
SP5: - -
SP6: - - -
SP7:

ExUns: 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SP110 Gene

GeneLoc Exon Structure for
SP110
ECgene alternative splicing isoforms for
SP110

Expression for SP110 Gene

mRNA expression in normal human tissues for SP110 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SP110 Gene

This gene is overexpressed in Whole Blood (10.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SP110 Gene

SOURCE GeneReport for Unigene cluster for SP110 Gene Hs.145150

mRNA Expression by UniProt/SwissProt for SP110 Gene

Q9HB58-SP110_HUMAN
Tissue specificity: Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas
genes like me logo Genes that share expressions with SP110: view

Orthologs for SP110 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SP110 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SP110 36
  • 98.7 (n)
  • 97.97 (a)
cow
(Bos Taurus)
Mammalia SP110 36
  • 75.1 (n)
  • 61.47 (a)
SP110 37
  • 44 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SP110 36
  • 76.84 (n)
  • 62.71 (a)
SP110 37
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AC125149.3 37
  • 62 (a)
OneToMany
AC125149.4 37
  • 61 (a)
OneToMany
AC132444.3 37
  • 61 (a)
OneToMany
AC133103.4 37
  • 61 (a)
OneToMany
AC133103.5 37
  • 62 (a)
OneToMany
AC168977.1 37
  • 48 (a)
OneToMany
LOC677525 36
  • 71.7 (n)
  • 55.1 (a)
Sp110 16
Sp110 37
  • 45 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 18 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SP110 37
  • 25 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sp110 36
  • 64.16 (n)
  • 49.34 (a)
zebrafish
(Danio rerio)
Actinopterygii BX569789.2 37
  • 33 (a)
ManyToMany
BX569789.4 37
  • 21 (a)
ManyToMany
zgc:113411 37
  • 21 (a)
ManyToMany
Species with no ortholog for SP110:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SP110 Gene

ENSEMBL:
Gene Tree for SP110 (if available)
TreeFam:
Gene Tree for SP110 (if available)

Paralogs for SP110 Gene

Paralogs for SP110 Gene

genes like me logo Genes that share paralogs with SP110: view

Variants for SP110 Gene

Sequence variations from dbSNP and Humsavar for SP110 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs722555 -- 230,168,800(-) acact(A/G)cattt downstream-variant-500B
rs919178 -- 230,179,748(-) GCTAT(A/G)TTCAC intron-variant
rs930031 -- 230,194,717(+) CCTGC(C/T)TGGGG intron-variant
rs930032 -- 230,194,732(+) AGGTT(A/T)CTTGT intron-variant
rs957682 -- 230,178,554(+) CTTCT(A/C)TTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SP110 Gene

Variant ID Type Subtype PubMed ID
esv29172 CNV Loss 19812545

Relevant External Links for SP110 Gene

HapMap Linkage Disequilibrium report
SP110
Human Gene Mutation Database (HGMD)
SP110
Locus Specific Mutation Databases (LSDB)
SP110

Disorders for SP110 Gene

(2) OMIM Diseases for SP110 Gene (604457)

UniProtKB/Swiss-Prot

SP110_HUMAN
  • Hepatic venoocclusive disease with immunodeficiency (VODI) [MIM:235550]: Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. {ECO:0000269 PubMed:16648851}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SP110 Gene

Relevant External Links for SP110

GeneTests
SP110
GeneReviews
SP110
Genetic Association Database (GAD)
SP110
Human Genome Epidemiology (HuGE) Navigator
SP110
genes like me logo Genes that share disorders with SP110: view

Publications for SP110 Gene

  1. Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. (PMID: 10913195) Bloch D.B. … Bloch K.D. (Mol. Cell. Biol. 2000) 3 4 23
  2. Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins. (PMID: 7693701) Kadereit S. … Meurs E.F. (J. Biol. Chem. 1993) 2 3 4
  3. No associations of human pulmonary tuberculosis with Sp110 variants. (PMID: 16816019) Thye T. … Meyer C.G. (J. Med. Genet. 2006) 3 4 49
  4. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. (PMID: 16648851) Roscioli T. … Buckley M.F. (Nat. Genet. 2006) 3 4
  5. Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa. (PMID: 16803959) Tosh K. … Hill A.V.S. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4

Products for SP110 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Interferons & Receptors in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate SP110
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for SP110
    • Block miRNA regulation of SP110 using miScript Target Protectors

    Sources for SP110 Gene

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