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Aliases for SP100 Gene

Aliases for SP100 Gene

  • SP100 Nuclear Antigen 2 3
  • Nuclear Dot-Associated Sp100 Protein 3 4
  • Speckled 100 KDa 3 4
  • SP100-HMG Nuclear Autoantigen 3
  • Nuclear Antigen Sp100 2
  • Lysp100b 3

External Ids for SP100 Gene

Previous GeneCards Identifiers for SP100 Gene

  • GC02P229341
  • GC02P230012
  • GC02P231245
  • GC02P231483
  • GC02P231106
  • GC02P230991
  • GC02P231280
  • GC02P223121

Summaries for SP100 Gene

Entrez Gene Summary for SP100 Gene

  • This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]

GeneCards Summary for SP100 Gene

SP100 (SP100 Nuclear Antigen) is a Protein Coding gene. Diseases associated with SP100 include myoblastoma and telogen effluvium. Among its related pathways are Immune System and Interleukin receptor SHC signaling. GO annotations related to this gene include protein homodimerization activity and chromatin binding. An important paralog of this gene is SP140L.

UniProtKB/Swiss-Prot for SP100 Gene

  • Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis. Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through mechanisms that may involve chromatin and/or transcriptional regulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP100 Gene

Genomics for SP100 Gene

Regulatory Elements for SP100 Gene

Genomic Location for SP100 Gene

Chromosome:
2
Start:
230,415,942 bp from pter
End:
230,545,602 bp from pter
Size:
129,661 bases
Orientation:
Plus strand

Genomic View for SP100 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SP100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP100 Gene

Proteins for SP100 Gene

  • Protein details for SP100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23497-SP100_HUMAN
    Recommended name:
    Nuclear autoantigen Sp-100
    Protein Accession:
    P23497
    Secondary Accessions:
    • B4DDX5
    • B8ZZD8
    • E7EUA7
    • E9PH61
    • F8WFE2
    • O75450
    • Q13343
    • Q8TE34
    • Q96F70
    • Q96T24
    • Q96T95
    • Q9NP33
    • Q9UE32

    Protein attributes for SP100 Gene

    Size:
    879 amino acids
    Molecular mass:
    100417 Da
    Quaternary structure:
    • Homodimer; isoforms are able to heterodimerize. Interacts with members of the HP1 family of nonhistone chromosomal protein, such as CBX5 and CBX3 via the PxVxL motif. Interacts with ETS1; the interaction is direct and modulates ETS1 transcriptional activity. Interacts with the MRN complex which is composed of two heterodimers RAD50/MRE11A associated with a single NBN; recruits the complex to PML-related bodies. Interacts with HIPK2; positively regulates TP53-dependent transcription. Interacts with CASP8AP2; may negatively regulate CASP8AP2 export from the nucleus to the cytoplasm. Interacts with Epstein-Barr virus EBNA-LP; this interaction is important for EBNA-LP coactivator activity. Interacts with human cytomegalovirus/HHV-5 protein UL123; may play a role in infection by the virus.
    Miscellaneous:
    • The major isoform Sp100-A, has a calculated molecular weight of 54 kDa, but exhibits aberrant electrophoretic mobilities, with an apparent molecular weight of 100 kDa

    Three dimensional structures from OCA and Proteopedia for SP100 Gene

    Alternative splice isoforms for SP100 Gene

neXtProt entry for SP100 Gene

Proteomics data for SP100 Gene at MOPED

Post-translational modifications for SP100 Gene

  • Sumoylated. Sumoylated with SUMO1. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or nuclear body targeting. Sumoylation may stabilize the interaction with CBX5
  • Sumoylated. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or nuclear body targeting
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for SP100

No data available for DME Specific Peptides for SP100 Gene

Domains & Families for SP100 Gene

Gene Families for SP100 Gene

Suggested Antigen Peptide Sequences for SP100 Gene

Graphical View of Domain Structure for InterPro Entry

P23497

UniProtKB/Swiss-Prot:

SP100_HUMAN :
  • The HSR domain is important for the nuclear body targeting as well as for the dimerization.
Domain:
  • The HSR domain is important for the nuclear body targeting as well as for the dimerization.
  • Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
  • Contains 2 HMG box DNA-binding domains.
  • Contains 1 HSR domain.
  • Contains 1 SAND domain.
genes like me logo Genes that share domains with SP100: view

Function for SP100 Gene

Molecular function for SP100 Gene

UniProtKB/Swiss-Prot Function:
Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis. Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through mechanisms that may involve chromatin and/or transcriptional regulation.
UniProtKB/Swiss-Prot Induction:
Up-regulated by interferon, retinoic acid, TNF-alpha/TNFA and lipopolysaccharide (at protein level). Up-regulated following heat-shock.

Gene Ontology (GO) - Molecular Function for SP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
GO:0003713 transcription coactivator activity IDA 14647468
GO:0003714 transcription corepressor activity IDA 15247905
GO:0005125 cytokine activity IEA --
genes like me logo Genes that share ontologies with SP100: view
genes like me logo Genes that share phenotypes with SP100: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SP100 Gene

Localization for SP100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP100 Gene

Nucleus. Nucleus, PML body. Cytoplasm. Note=Differences in the subnuclear localization of the different isoforms seem to exist and may also be cell cycle- and interferon-dependent. Accumulates in the cytoplasm upon FAS activation.
Isoform Sp100-C: Nucleus. Note=Forms a reticulate or track-like nuclear pattern with denser concentrations at the nuclear lamina and surrounding the nucleoli, a pattern reminiscent of heterochromatin-rich regions according to PubMed:11313457.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SP100 Gene COMPARTMENTS Subcellular localization image for SP100 gene
Compartment Confidence
nucleus 5
chloroplast 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005634 nucleus IDA 2258622
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IMP 11313457
GO:0005737 cytoplasm IDA 9412458
genes like me logo Genes that share ontologies with SP100: view

Pathways & Interactions for SP100 Gene

genes like me logo Genes that share pathways with SP100: view

Pathways by source for SP100 Gene

2 KEGG pathways for SP100 Gene
1 GeneGo (Thomson Reuters) pathway for SP100 Gene

Gene Ontology (GO) - Biological Process for SP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15247905
GO:0000723 telomere maintenance IMP 15767676
GO:0006338 chromatin remodeling IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006954 inflammatory response IEA --
genes like me logo Genes that share ontologies with SP100: view

No data available for SIGNOR curated interactions for SP100 Gene

Drugs & Compounds for SP100 Gene

(1) Drugs for SP100 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 1404

(1) Additional Compounds for SP100 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
302-79-4
genes like me logo Genes that share compounds with SP100: view

Transcripts for SP100 Gene

Unigene Clusters for SP100 Gene

SP100 nuclear antigen:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SP100

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SP100 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: - - -
SP3:
SP4:
SP5:

ExUns: 24
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for SP100 Gene

GeneLoc Exon Structure for
SP100
ECgene alternative splicing isoforms for
SP100

Expression for SP100 Gene

mRNA expression in normal human tissues for SP100 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SP100 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for SP100 Gene

This gene is overexpressed in Blymphocyte (13.3), Monocytes (11.8), and Peripheral blood mononuclear cells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SP100 Gene



SOURCE GeneReport for Unigene cluster for SP100 Gene Hs.369056

mRNA Expression by UniProt/SwissProt for SP100 Gene

P23497-SP100_HUMAN
Tissue specificity: Widely expressed. Sp100-B is expressed only in spleen, tonsil, thymus, mature B-cell line and some T-cell line, but not in brain, liver, muscle or non-lymphoid cell lines
genes like me logo Genes that share expression patterns with SP100: view

Protein tissue co-expression partners for SP100 Gene

- Elite partner

Primer Products

  • 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

In Situ Assay Products

Orthologs for SP100 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SP100 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SP100 35
  • 77.37 (n)
  • 61.98 (a)
-- 36
  • 56 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SP100 35
  • 99.4 (n)
  • 99.1 (a)
SP100 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sp100 16
AC133103.3 36
  • 48 (a)
OneToMany
AC168977.2 36
  • 49 (a)
OneToMany
Sp100 36
  • 33 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 55 (a)
OneToMany
SP140L 36
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 22 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii BX569789.2 36
  • 37 (a)
ManyToMany
BX569789.4 36
  • 24 (a)
ManyToMany
zgc:113411 36
  • 22 (a)
ManyToMany
Species with no ortholog for SP100:
  • 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)
  • rat (Rattus norvegicus)
  • 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 SP100 Gene

ENSEMBL:
Gene Tree for SP100 (if available)
TreeFam:
Gene Tree for SP100 (if available)

Paralogs for SP100 Gene

Paralogs for SP100 Gene

Pseudogenes.org Pseudogenes for SP100 Gene

genes like me logo Genes that share paralogs with SP100: view

Variants for SP100 Gene

Sequence variations from dbSNP and Humsavar for SP100 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs77389393 -- 230,437,220(+) AAATA(C/T)GTTTT intron-variant
rs77203584 -- 230,423,905(+) TGAGA(A/G)TCAAT intron-variant
rs77164615 -- 230,539,500(+) ATAAG(A/G)AGCAG intron-variant
rs77138900 -- 230,541,550(+) GTCCC(A/G)GAGGC intron-variant
rs76942888 -- 230,433,026(+) ATCCT(C/T)GTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SP100 Gene

Variant ID Type Subtype PubMed ID
esv29172 CNV Loss 19812545
nsv875947 CNV Loss 21882294
nsv521344 CNV Gain 19592680
esv2721597 CNV Deletion 23290073
esv2481105 CNV Deletion 19546169
esv2087998 CNV Deletion 18987734
esv3308 CNV Deletion 18987735
esv2721598 CNV Deletion 23290073
esv2666499 CNV Deletion 23128226
esv1000746 CNV Deletion 20482838
esv7579 CNV Loss 19470904
esv1035307 CNV Deletion 17803354
esv2721599 CNV Deletion 23290073
esv2721600 CNV Deletion 23290073
esv2721601 CNV Deletion 23290073
nsv214779 CNV Insertion 16902084
esv994890 CNV Insertion 20482838
nsv875948 CNV Gain 21882294
esv2721602 CNV Deletion 23290073
esv2721603 CNV Deletion 23290073
esv2721604 CNV Deletion 23290073
dgv4445n71 CNV Gain 21882294

Variation tolerance for SP100 Gene

Residual Variation Intolerance Score: 52.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SP100 Gene

HapMap Linkage Disequilibrium report
SP100
Human Gene Mutation Database (HGMD)
SP100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP100 Gene

Disorders for SP100 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SP100 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
myoblastoma
  • benign granular cell tumor
telogen effluvium
autoimmune disease of urogenital tract
primary biliary cirrhosis
  • chronic nonsuppurative destructive cholangitis
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
- elite association
Search SP100 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SP100

Genetic Association Database (GAD)
SP100
Human Genome Epidemiology (HuGE) Navigator
SP100
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SP100
genes like me logo Genes that share disorders with SP100: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SP100 Gene

Publications for SP100 Gene

  1. Three-dimensional organization of promyelocytic leukemia nuclear bodies. (PMID: 20130140) Lang M. … Rippe K. (J. Cell. Sci. 2010) 23 67
  2. PML nuclear body component Sp140 is a novel autoantigen in primary biliary cirrhosis. (PMID: 19861957) Granito A. … Muratori P. (Am. J. Gastroenterol. 2010) 23 67
  3. Low expression of Sp100 in laryngeal cancer: correlation with cell differentiation. (PMID: 20512085) Li W. … Fu W. (Med. Sci. Monit. 2010) 23 67
  4. Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling. (PMID: 18984860) BeA S. … Campo E. (Blood 2009) 23 67
  5. Differential functions of interferon-upregulated Sp100 isoforms: herpes simplex virus type 1 promoter-based immediate-early gene suppression and PML protection from ICP0-mediated degradation. (PMID: 19279115) Negorev D.G. … Maul G.G. (J. Virol. 2009) 23 67

Products for SP100 Gene

Sources for SP100 Gene

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