Human Gene SP100 (ENST00000340126.9_4) from GENCODE V47lift37
  Description: SP100 nuclear antigen, transcript variant 1 (from RefSeq NM_001080391.2)
Gencode Transcript: ENST00000340126.9_4
Gencode Gene: ENSG00000067066.17_9
Transcript (Including UTRs)
   Position: hg19 chr2:231,280,916-231,410,321 Size: 129,406 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg19 chr2:231,281,012-231,407,661 Size: 126,650 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:231,280,916-231,410,321)mRNA (may differ from genome)Protein (885 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SP100_HUMAN
DESCRIPTION: RecName: Full=Nuclear autoantigen Sp-100; AltName: Full=Lysp100b; AltName: Full=Nuclear dot-associated Sp100 protein; AltName: Full=Speckled 100 kDa;
FUNCTION: May play a role in the control of gene expression.
SUBUNIT: Homodimer. Splice variants heterodimerize. Interacts with members of the HP1 family of nonhistone chromosomal protein, such as CBX5 and CBX3 via the PxVxL motif. Interacts with Epstein-Barr virus EBNA-LP. Interacts with human cytomegalovirus/HHV-5 protein UL123.
INTERACTION: P55854:SUMO3; NbExp=2; IntAct=EBI-751145, EBI-474067;
SUBCELLULAR LOCATION: Nucleus, PML body. Note=Found in the nuclear body, also known as nuclear domain 10 (ND10), PML oncogenic domain (POD), nuclear dots (ND) and KR body. The nuclear body is a nucleoplasmic structure of punctate shape, which varies in size and number. Induction by interferon and may be cell cycle stages modulate the subnuclear localization of the isoforms.
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.
INDUCTION: By interferon.
DOMAIN: The HSR domain is important for the nuclear body targeting as well as for the dimerization.
DOMAIN: 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.
PTM: Sumoylated. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or nuclear body targeting.
MISCELLANEOUS: The major isoform Sp100-A, has a calculated MW of 54 kDa, but exhibits aberrant electrophoretic mobilities, with an apparent MW OF 100 kDa.
SIMILARITY: Contains 2 HMG box DNA-binding domains.
SIMILARITY: Contains 1 HSR domain.
SIMILARITY: Contains 1 SAND domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SP100
Diseases sorted by gene-association score: primary biliary cirrhosis (14), autoimmune disease of urogenital tract (11), telogen effluvium (7), myoblastoma (7), leukemia, acute promyelocytic, somatic (6), cholangitis (6), herpes simplex (5), cholangitis, primary sclerosing (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.71 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 435.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.7096-0.486 Picture PostScript Text
3' UTR -577.842660-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009071 - HMG_superfamily
IPR000770 - SAND_dom
IPR010919 - SAND_dom-like
IPR004865 - Sp100

Pfam Domains:
PF00439 - Bromodomain
PF01342 - SAND domain
PF03172 - HSR domain

SCOP Domains:
47370 - Bromodomain
63763 - SAND domain-like
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1H5P - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P23497
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019900 kinase binding
GO:0019904 protein domain specific binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0070087 chromo shadow domain binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000723 telomere maintenance
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0010596 negative regulation of endothelial cell migration
GO:0016032 viral process
GO:0032526 response to retinoic acid
GO:0032897 negative regulation of viral transcription
GO:0034097 response to cytokine
GO:0034340 response to type I interferon
GO:0034341 response to interferon-gamma
GO:0043392 negative regulation of DNA binding
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045185 maintenance of protein location
GO:0045765 regulation of angiogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046826 negative regulation of protein export from nucleus
GO:0048384 retinoic acid receptor signaling pathway
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051271 negative regulation of cellular component movement
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060337 type I interferon signaling pathway
GO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902044 regulation of Fas signaling pathway
GO:1903507 negative regulation of nucleic acid-templated transcription

Cellular Component:
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016604 nuclear body
GO:0016605 PML body
GO:0034399 nuclear periphery
GO:0030870 Mre11 complex


-  Descriptions from all associated GenBank mRNAs
  U36501 - Human SP100-B (SP100-B) mRNA, complete cds.
AF056322 - Homo sapiens SP100-HMG nuclear autoantigen (SP100) mRNA, complete cds.
AF255565 - Homo sapiens nuclear body protein SP100C mRNA, complete cds, alternatively spliced.
L79987 - Homo sapiens nuclear autoantigen mRNA, partial cds; alternatively spliced.
L79988 - Homo sapiens nuclear autoantigen mRNA, partial cds; alternatively spliced.
AK304205 - Homo sapiens cDNA FLJ61544 complete cds, highly similar to Nuclear autoantigen Sp-100.
BC011562 - Homo sapiens SP100 nuclear antigen, mRNA (cDNA clone MGC:20140 IMAGE:4560914), complete cds.
AK293373 - Homo sapiens cDNA FLJ59578 complete cds, highly similar to Nuclear autoantigen Sp-100.
M60618 - Human nuclear autoantigen (SP-100) mRNA, complete cds.
JD476499 - Sequence 457523 from Patent EP1572962.
KJ901758 - Synthetic construct Homo sapiens clone ccsbBroadEn_11152 SP100 gene, encodes complete protein.
AK091898 - Homo sapiens cDNA FLJ34579 fis, clone KIDNE2008446, highly similar to NUCLEAR AUTOANTIGEN SP-100.
L79989 - Homo sapiens nuclear autoantigen mRNA, partial cds; alternatively spliced.
CR749288 - Homo sapiens mRNA; cDNA DKFZp686E07254 (from clone DKFZp686E07254).
AK126529 - Homo sapiens cDNA FLJ44565 fis, clone UTERU3009490, moderately similar to LYSP100 protein.
AK160379 - Homo sapiens mRNA for FLJ00340 protein.
JD563478 - Sequence 544502 from Patent EP1572962.
AK090565 - Homo sapiens cDNA FLJ33246 fis, clone ASTRO2004751.
AX746513 - Sequence 38 from Patent EP1308459.
JD238696 - Sequence 219720 from Patent EP1572962.
JD360196 - Sequence 341220 from Patent EP1572962.
JD554004 - Sequence 535028 from Patent EP1572962.
JD079917 - Sequence 60941 from Patent EP1572962.
JD301765 - Sequence 282789 from Patent EP1572962.
JD103816 - Sequence 84840 from Patent EP1572962.
JD064696 - Sequence 45720 from Patent EP1572962.
JD090808 - Sequence 71832 from Patent EP1572962.
JD146767 - Sequence 127791 from Patent EP1572962.
JD043090 - Sequence 24114 from Patent EP1572962.
JD359288 - Sequence 340312 from Patent EP1572962.
JD091721 - Sequence 72745 from Patent EP1572962.
JD326170 - Sequence 307194 from Patent EP1572962.
JD154307 - Sequence 135331 from Patent EP1572962.
JD262493 - Sequence 243517 from Patent EP1572962.
JD562087 - Sequence 543111 from Patent EP1572962.
JD514067 - Sequence 495091 from Patent EP1572962.
JD070049 - Sequence 51073 from Patent EP1572962.
JD397451 - Sequence 378475 from Patent EP1572962.
JD207595 - Sequence 188619 from Patent EP1572962.
JD089036 - Sequence 70060 from Patent EP1572962.
JD242774 - Sequence 223798 from Patent EP1572962.
JD331119 - Sequence 312143 from Patent EP1572962.
JD219129 - Sequence 200153 from Patent EP1572962.
JD311911 - Sequence 292935 from Patent EP1572962.
JD346391 - Sequence 327415 from Patent EP1572962.
JD272873 - Sequence 253897 from Patent EP1572962.
JD207564 - Sequence 188588 from Patent EP1572962.
JD318095 - Sequence 299119 from Patent EP1572962.
JD044080 - Sequence 25104 from Patent EP1572962.
JD330884 - Sequence 311908 from Patent EP1572962.
JD504524 - Sequence 485548 from Patent EP1572962.
JD502606 - Sequence 483630 from Patent EP1572962.
JD052671 - Sequence 33695 from Patent EP1572962.
JD377912 - Sequence 358936 from Patent EP1572962.
JD431262 - Sequence 412286 from Patent EP1572962.
JD178773 - Sequence 159797 from Patent EP1572962.
JD449893 - Sequence 430917 from Patent EP1572962.
JD046300 - Sequence 27324 from Patent EP1572962.
JD172645 - Sequence 153669 from Patent EP1572962.
JD081802 - Sequence 62826 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_pmlPathway - Regulation of transcriptional activity by PML

Reactome (by CSHL, EBI, and GO)

Protein P23497 (Reactome details) participates in the following event(s):

R-HSA-3000348 RANBP2 SUMOylates SP100 with SUMO2
R-HSA-3000399 RANBP2 SUMOylates SP100 with SUMO1
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-877300 Interferon gamma signaling
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-913531 Interferon Signaling
R-HSA-2990846 SUMOylation
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-597592 Post-translational protein modification
R-HSA-168256 Immune System
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B4DDX5, B8ZZD8, E7EUA7, E9PH61, ENST00000340126.1, ENST00000340126.2, ENST00000340126.3, ENST00000340126.4, ENST00000340126.5, ENST00000340126.6, ENST00000340126.7, ENST00000340126.8, F8WFE2, NM_001080391, O75450, P23497, Q13343, Q8TE34, Q96F70, Q96T24, Q96T95, Q9NP33, Q9UE32, SP100_HUMAN, uc317voo.1, uc317voo.2
UCSC ID: ENST00000340126.9_4
RefSeq Accession: NM_001080391.2
Protein: P23497 (aka SP100_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.