Human Gene SP100 (uc002vqu.1)
  Description: Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.
RefSeq Summary (NM_001080391): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:231,280,871-231,410,317 Size: 129,447 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 LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:231,280,871-231,410,317)mRNA (may differ from genome)Protein (885 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SP100
CDC HuGE Published Literature: SP100

-  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 -72.40141-0.513 Picture PostScript Text
3' UTR -632.402656-0.238 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
  Pfam Domains:
PF00439 - Bromodomain
PF01342 - SAND domain
PF03172 - HSR domain

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

ModBase Predicted Comparative 3D Structure on P23497-4
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  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: NM_001080391, NP_001073860, P23497-4
UCSC ID: uc002vqu.1
RefSeq Accession: NM_001080391
Protein: P23497-4, splice isoform of P23497 CCDS: CCDS42832.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001080391.1
exon count: 29CDS single in 3' UTR: no RNA size: 5455
ORF size: 2658CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4022.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.