• Gene id: 6672

Gene Summary

• Gene Symbol: SP100   Gene   UCSC   Ensembl
• Aliases: lysp100b
• Gene name: SP100 nuclear antigen
• Alternate names: nuclear autoantigen Sp-100, SP100-HMG nuclear autoantigen, nuclear dot-associated Sp100 protein, speckled 100 kDa,
• Gene location: 2q37.1 (230416155: 230545605)     Exons: 20     NC_000002.12
• Gene summary(Entrez): 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 prot
• OMIM: 604585

Protein Summary

• Protein general information: P23497  
  • Name: Nuclear autoantigen Sp 100 (Nuclear dot associated Sp100 protein) (Speckled 100 kDa)
  • Length: 879  
  • Mass: 100417
  • 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.
• Sequence:

  MAGGGGDLSTRRLNECISPVANEMNHLPAHSHDLQRMFTEDQGVDDRLLYDIVFKHFKRNKVEISNAIKKTFPFL
  EGLRDRDLITNKMFEDSQDSCRNLVPVQRVVYNVLSELEKTFNLPVLEALFSDVNMQEYPDLIHIYKGFENVIHD
  KLPLQESEEEEREERSGLQLSLEQGTGENSFRSLTWPPSGSPSHAGTTPPENGLSEHPCETEQINAKRKDTTSDK
  DDSLGSQQTNEQCAQKAEPTESCEQIAVQVNNGDAGREMPCPLPCDEESPEAELHNHGIQINSCSVRLVDIKKEK
  PFSNSKVECQAQARTHHNQASDIIVISSEDSEGSTDVDEPLEVFISAPRSEPVINNDNPLESNDEKEGQEATCSR
  PQIVPEPMDFRKLSTFRESFKKRVIGQDHDFSESSEEEAPAEASSGALRSKHGEKAPMTSRSTSTWRIPSRKRRF
  SSSDFSDLSNGEELQETCSSSLRRGSGSQPQEPENKKCSCVMCFPKGVPRSQEARTESSQASDMMDTMDVENNST
  LEKHSGKRRKKRRHRSKVNGLQRGRKKDRPRKHLTLNNKVQKKRWQQRGRKANTRPLKRRRKRGPRIPKDENINF
  KQSELPVTCGEVKGTLYKERFKQGTSKKCIQSEDKKWFTPREFEIEGDRGASKNWKLSIRCGGYTLKVLMENKFL
  PEPPSTRKKRILESHNNTLVDPCEEHKKKNPDASVKFSEFLKKCSETWKTIFAKEKGKFEDMAKADKAHYEREMK
  TYIPPKGEKKKKFKDPNAPKRPPLAFFLFCSEYRPKIKGEHPGLSIDDVVKKLAGMWNNTAAADKQFYEKKAAKL
  KEKYKKDIAAYRAKGKPNSAKKRVVKAEKSKKKKEEEEDEEDEQEEENEEDDDK

• Structural information:
  • Protein Domains: (33..14-)
    (/note="HSR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00747-)
    (595..67-)
    (/note="SAND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00185"-)
  • Interpro: IPR009071  IPR036910  IPR004865  IPR010919  IPR000770  
  • Prosite: PS50118 PS51414 PS50864
  • PDB: 1H5P 4PTB 5FB0 5FB1 5PWE 5PWF 5PWG 5PWH 5PWI 5PWJ 5PWK 5PWL 5PWM 5PWN 5PWO 5PWP 5PWQ 5PWR 5PWS 5PWT 5PWU 5PWV 5PWW 5PWX 5PWY 5PWZ 5PX0 5PX1 5PX2 5PX3 5PX4 5PX5 5PX6 5PX7 5PX8 5PX9 5PXA 5PXB 5PXC 5PXD 5PXE 5PXF 5PXG 5PXH 5PXI 5PXJ 5PXK 5PXL 5PXM 5PXN 5PXO 5PXP 5PXQ 5PXR 5PXS 5PXT 5PXU 5PXV 5PXW 5PXX 5PXY 5PXZ 5PY0 5PY
  • PDBsum: 1H5P 4PTB 5FB0 5FB1 5PWE 5PWF 5PWG 5PWH 5PWI 5PWJ 5PWK 5PWL 5PWM 5PWN 5PWO 5PWP 5PWQ 5PWR 5PWS 5PWT 5PWU 5PWV 5PWW 5PWX 5PWY 5PWZ 5PX0 5PX1 5PX2 5PX3 5PX4 5PX5 5PX6 5PX7 5PX8 5PX9 5PXA 5PXB 5PXC 5PXD 5PXE 5PXF 5PXG 5PXH 5PXI 5PXJ 5PXK 5PXL 5PXM 5PXN 5PXO 5PXP 5PXQ 5PXR 5PXS 5PXT 5PXU 5PXV 5PXW 5PXX 5PXY 5PXZ 5PY0 5PY
  • DIP: 5983
  • STRING: ENSP00000343023
• Other Databases: GeneCards:  SP100  Malacards:  SP100

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0030870	Mre11 complex	IDA	colocalizes with
GO:0016605	PML body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1902041	regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0010596	negative regulation of endothelial cell migration	IMP	biological process
GO:0000723	telomere maintenance	IMP	biological process
GO:1902044	regulation of Fas signaling pathway	IMP	biological process
GO:0046826	negative regulation of protein export from nucleus	IMP	biological process
GO:0045765	regulation of angiogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0070087	chromo shadow domain binding	IPI	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0034340	response to type I interferon	IDA	biological process
GO:0034340	response to type I interferon	IDA	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0060337	type I interferon signaling pathway	IC	biological process
GO:0046983	protein dimerization activity	IPI	molecular function
GO:0045185	maintenance of protein location	IDA	biological process
GO:0034340	response to type I interferon	IMP	biological process
GO:0034341	response to interferon-gamma	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	IC	biological process
GO:0016605	PML body	IDA	cellular component
GO:0051271	negative regulation of cellular component movement	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05203	Viral carcinogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R