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Aliases for SP140 Gene

Aliases for SP140 Gene

  • SP140 Nuclear Body Protein 2 3 5
  • 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
  • LYSP100-A 3
  • LYSP100-B 3

External Ids for SP140 Gene

Previous GeneCards Identifiers for SP140 Gene

  • GC02P229150
  • GC02P229822
  • GC02P231054
  • GC02P231292
  • GC02P230915
  • GC02P230798
  • GC02P231090
  • GC02P222930

Summaries for SP140 Gene

GeneCards Summary for SP140 Gene

SP140 (SP140 Nuclear Body Protein) is a Protein Coding gene. Diseases associated with SP140 include primary biliary cirrhosis and cll/sll. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. 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

Regulatory Elements for SP140 Gene

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

Genomic Location for SP140 Gene

Chromosome:
2
Start:
230,202,742 bp from pter
End:
230,316,616 bp from pter
Size:
113,875 bases
Orientation:
Plus strand

Genomic View for SP140 Gene

Genes around SP140 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP140 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SP140 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP140 Gene

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
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SP140 Gene

Domains & Families for SP140 Gene

Gene Families for SP140 Gene

Suggested Antigen Peptide Sequences for SP140 Gene

Graphical View of Domain Structure for InterPro Entry

Q13342

UniProtKB/Swiss-Prot:

SP140_HUMAN :
  • Contains 1 bromo domain.
  • Contains 1 PHD-type zinc finger.
Domain:
  • Contains 1 bromo domain.
  • Contains 1 HSR domain.
  • Contains 1 SAND domain.
Similarity:
  • Contains 1 PHD-type zinc finger.
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:0005515 protein binding IEA,IPI 24267382
genes like me logo Genes that share ontologies with SP140: view
genes like me logo Genes that share phenotypes with SP140: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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
mitochondrion 4
cytosol 2

Gene Ontology (GO) - Cellular Components for SP140 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with SP140: view

Pathways & Interactions for SP140 Gene

SuperPathways for SP140 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SP140 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SP140 Gene

Drugs & Compounds for SP140 Gene

No Compound Related Data Available

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 (x9.0), Spleen (x8.5), and Small Intestine - Terminal Ileum (x4.6).

Protein differential expression in normal tissues from HIPED for SP140 Gene

This gene is overexpressed in Blymphocyte (38.3) and Peripheral blood mononuclear cells (21.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SP140: view

Protein tissue co-expression partners for SP140 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SP140 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SP140 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SP140 35
  • 72.22 (n)
  • 58.13 (a)
SP140L 36
  • 34 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SP140 35
  • 73.78 (n)
  • 60.39 (a)
SP140 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sp140 35
  • 69 (n)
  • 55.49 (a)
Sp140 16
A530032D15Rik 36
  • 34 (a)
OneToMany
AC125149.1 36
  • 61 (a)
OneToMany
AC125149.2 36
  • 59 (a)
OneToMany
AC132444.5 36
  • 46 (a)
OneToMany
AC133103.1 36
  • 33 (a)
OneToMany
C130026I21Rik 36
  • 32 (a)
OneToMany
Sp140 36
  • 49 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sp140 35
  • 65.16 (n)
  • 52.33 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 20 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 47 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia SP140 36
  • 99 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BX569789.2 36
  • 33 (a)
ManyToMany
BX569789.4 36
  • 22 (a)
ManyToMany
zgc:113411 36
  • 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
rs3820975 - 230,253,326(+) TGTTT(A/C)TCTGC intron-variant, nc-transcript-variant, reference, missense
rs4972945 - 230,284,382(+) GAGAA(C/T)GAGAA nc-transcript-variant, reference, missense
rs4972946 - 230,284,393(+) GGCAG(A/G)AAAAC nc-transcript-variant, reference, missense
rs11887179 - 230,287,918(+) GAACC(C/T)GCTTC nc-transcript-variant, reference, missense
rs730010 -- 230,314,161(+) ATAGA(G/T)GTACC 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

Variation tolerance for SP140 Gene

Residual Variation Intolerance Score: 88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SP140 Gene

HapMap Linkage Disequilibrium report
SP140
Human Gene Mutation Database (HGMD)
SP140

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP140 Gene

Disorders for SP140 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SP140 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary biliary cirrhosis
  • biliary liver cirrhosis
cll/sll
  • chronic lymphocytic leukemia/small lymphocytic lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search SP140 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SP140

Genetic Association Database (GAD)
SP140
Human Genome Epidemiology (HuGE) Navigator
SP140
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SP140
genes like me logo Genes that share disorders with SP140: view

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

Publications for SP140 Gene

  1. 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 67
  2. 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
  3. 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 23
  4. Structure of human Sp140 PHD finger: an atypical fold interacting with Pin1. (PMID: 24267382) Zucchelli C. … Musco G. (FEBS J. 2014) 3
  5. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. (PMID: 24292274) Speedy H.E. … Houlston R.S. (Nat. Genet. 2014) 3

Products for SP140 Gene

Sources for SP140 Gene

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