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Aliases for SP140 Gene

Aliases for SP140 Gene

  • SP140 Nuclear Body Protein 2 3
  • Lymphoid-Restricted Homolog Of Sp100 3 4
  • Nuclear Autoantigen Sp-140 3 4
  • Speckled 140 KDa 3 4
  • LYSP100 3 4
  • Lymphoid-Specific SP100 Homolog 3
  • Nuclear Body Protein SP140 3
  • LYSP100-A 3
  • LYSP100-B 3

External Ids for SP140 Gene

Summaries for SP140 Gene

GeneCards Summary for SP140 Gene

SP140 (SP140 Nuclear Body Protein) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SP140L.

UniProtKB/Swiss-Prot for SP140 Gene

  • Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP140 Gene

Genomics for SP140 Gene

Genomic Location for SP140 Gene

Start:
230,203,110 bp from pter
End:
230,314,407 bp from pter
Size:
111,298 bases
Orientation:
Plus strand

Genomic View for SP140 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SP140 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP140 Gene

Regulatory Elements for SP140 Gene

Transcription factor binding sites by QIAGEN in the SP140 gene promoter:

Proteins for SP140 Gene

  • Protein details for SP140 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13342-SP140_HUMAN
    Recommended name:
    Nuclear body protein SP140
    Protein Accession:
    Q13342
    Secondary Accessions:
    • E7ESH9
    • E7EUR5
    • E9PFJ6
    • Q0VGE5
    • Q13341
    • Q3KR17
    • Q4ZG66
    • Q53TG1
    • Q6NSG4
    • Q92881
    • Q96TG3

    Protein attributes for SP140 Gene

    Size:
    867 amino acids
    Molecular mass:
    98223 Da
    Quaternary structure:
    • Interacts with PIN1.
    Miscellaneous:
    • This antigen is recognized by autoantibodies from patients with primary biliary cirrhosis.
    SequenceCaution:
    • Sequence=AAB18617.1; Type=Frameshift; Positions=862; Evidence={ECO:0000305}; Sequence=AAX93282.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SP140 Gene

    Alternative splice isoforms for SP140 Gene

neXtProt entry for SP140 Gene

Proteomics data for SP140 Gene at MOPED

Post-translational modifications for SP140 Gene

  • Phosphorylation at Thr-726 promotes binding of PIN1 and subsequent isomerization of Pro-727.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys494, Lys676, and Lys736

No data available for DME Specific Peptides for SP140 Gene

Domains for SP140 Gene

Gene Families for SP140 Gene

HGNC:
  • PHF :Zinc fingers, PHD-type

UniProtKB/Swiss-Prot:

SP140_HUMAN
Domain:
  • Contains 1 bromo domain.:
    • Q13342
  • Contains 1 HSR domain.:
    • Q13342
  • Contains 1 SAND domain.:
    • Q13342
Similarity:
  • Contains 1 PHD-type zinc finger.:
    • Q13342
genes like me logo Genes that share domains with SP140: view

Function for SP140 Gene

Molecular function for SP140 Gene

UniProtKB/Swiss-Prot Function: Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382).
UniProtKB/Swiss-Prot Induction: By gamma-interferon.

Gene Ontology (GO) - Molecular Function for SP140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 8695863
GO:0005515 protein binding IPI 24267382
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with SP140: view
genes like me logo Genes that share phenotypes with SP140: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SP140 Gene

Localization for SP140 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP140 Gene

Nucleus. Nucleus, PML body. Cytoplasm. Note=Localized to nuclear structures termed LANDS, for LYSp100-associated nuclear domains. LANDS are globular, electron-dense structures most often found in the nucleoplasm, but also found at the nuclear membrane and in the cytoplasm, suggesting that these structures may traffic between the cytoplasm and the nucleus (PubMed:8695863). Also colocalizes with PML in a subset of PML nuclear bodies (PubMed:8910577). {ECO:0000269 PubMed:8695863, ECO:0000269 PubMed:8910577}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SP140 Gene COMPARTMENTS Subcellular localization image for SP140 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SP140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005635 nuclear envelope TAS 8695863
GO:0005654 nucleoplasm TAS 8695863
GO:0005737 cytoplasm IEA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with SP140: view

Pathways for SP140 Gene

SuperPathways for SP140 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling IBA --
GO:0006355 regulation of transcription, DNA-templated IBA --
GO:0006952 defense response TAS 8910577
genes like me logo Genes that share ontologies with SP140: view

No data available for Pathways by source for SP140 Gene

Transcripts for SP140 Gene

Unigene Clusters for SP140 Gene

SP140 nuclear body protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SP140 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - -
SP4:
SP5: - - - -
SP6: -
SP7: - - -
SP8: - - -
SP9: - -

ExUns: 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SP140 Gene

GeneLoc Exon Structure for
SP140
ECgene alternative splicing isoforms for
SP140

Expression for SP140 Gene

mRNA expression in normal human tissues for SP140 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SP140 Gene

This gene is overexpressed in Whole Blood (9.0), Spleen (8.5), and Small Intestine - Terminal Ileum (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SP140 Gene

SOURCE GeneReport for Unigene cluster for SP140 Gene Hs.632549

mRNA Expression by UniProt/SwissProt for SP140 Gene

Q13342-SP140_HUMAN
Tissue specificity: High levels in spleen and peripheral blood leukocytes, much lower levels in tonsils, thymus, prostate, ovary, small intestine, and colon (PubMed:8695863, PubMed:8910577.) Very low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas (PubMed:8910577). Not detected in brain, liver and muscle (PubMed:8695863).
genes like me logo Genes that share expressions with SP140: view

Orthologs for SP140 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SP140 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SP140 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SP140 36
  • 72.22 (n)
  • 58.13 (a)
SP140L 37
  • 34 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SP140 36
  • 73.78 (n)
  • 60.39 (a)
SP140 37
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia A530032D15Rik 37
  • 34 (a)
OneToMany
AC125149.1 37
  • 61 (a)
OneToMany
AC125149.2 37
  • 59 (a)
OneToMany
AC132444.5 37
  • 46 (a)
OneToMany
AC133103.1 37
  • 33 (a)
OneToMany
C130026I21Rik 37
  • 32 (a)
OneToMany
Sp140 36
  • 69 (n)
  • 55.49 (a)
Sp140 16
Sp140 37
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 20 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 47 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Sp140 36
  • 65.16 (n)
  • 52.33 (a)
zebrafish
(Danio rerio)
Actinopterygii BX569789.2 37
  • 33 (a)
ManyToMany
BX569789.4 37
  • 22 (a)
ManyToMany
zgc:113411 37
  • 24 (a)
ManyToMany
Species with no ortholog for SP140:
  • 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 SP140 Gene

ENSEMBL:
Gene Tree for SP140 (if available)
TreeFam:
Gene Tree for SP140 (if available)

Paralogs for SP140 Gene

Paralogs for SP140 Gene

Pseudogenes.org Pseudogenes for SP140 Gene

genes like me logo Genes that share paralogs with SP140: view

Variants for SP140 Gene

Sequence variations from dbSNP and Humsavar for SP140 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs730010 -- 230,314,161(+) ATAGA(G/T)GTACC intron-variant
rs890581 -- 230,266,672(-) tatgt(C/T)aacaa intron-variant
rs933956 -- 230,314,745(-) AGTGT(C/T)CCCCT downstream-variant-500B
rs933957 -- 230,313,189(-) ataac(A/G)tatgt utr-variant-3-prime, intron-variant
rs1010491 -- 230,295,806(+) CCCAG(A/G)ATAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SP140 Gene

Variant ID Type Subtype PubMed ID
esv29172 CNV Loss 19812545
esv2721594 CNV Deletion 23290073
nsv875944 CNV Gain 21882294
dgv4444n71 CNV Gain 21882294

Relevant External Links for SP140 Gene

HapMap Linkage Disequilibrium report
SP140

Disorders for SP140 Gene

Relevant External Links for SP140

Genetic Association Database (GAD)
SP140
Human Genome Epidemiology (HuGE) Navigator
SP140
genes like me logo Genes that share disorders with SP140: view

No data available for UniProtKB/Swiss-Prot for SP140 Gene

Publications for SP140 Gene

  1. LYSP100-associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies. (PMID: 8695863) Dent A.L. … Staudt L.M. (Blood 1996) 2 3 4 23
  2. Identification and characterization of a leukocyte-specific component of the nuclear body. (PMID: 8910577) Bloch D.B. … Bloch K.D. (J. Biol. Chem. 1996) 2 3 4 23
  3. Implication of the lymphocyte-specific nuclear body protein Sp140 in an innate response to human immunodeficiency virus type 1. (PMID: 12368356) Madani N. … Kabat D. (J. Virol. 2002) 2 3 23
  4. Genetic susceptibility variants for chronic lymphocytic leukemia. (PMID: 20332261) Slager S.L. … Cerhan J.R. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 49
  5. Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong. (PMID: 20731705) Lan Q. … Rothman N. (Eur. J. Haematol. 2010) 3 49

Products for SP140 Gene

Sources for SP140 Gene

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