• Gene id: 3431

Gene Summary

• Gene Symbol: SP110   Gene   UCSC   Ensembl
• Aliases: IFI41, IFI75, IPR1, VODI
• Gene name: SP110 nuclear body protein
• Alternate names: sp110 nuclear body protein, interferon-induced protein 41, 30kD, interferon-induced protein 41/75, interferon-induced protein 75, 52kD, phosphoprotein 41, phosphoprotein 75, speckled 110 kDa, transcriptional coactivator Sp110,
• Gene location: 2q37.1 (230225728: 230165185)     Exons: 24     NC_000002.12
• Gene summary(Entrez): The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can func
• OMIM: 604457

SNPs

rs11204546

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.247896410T>A
NC_000001.11   g.247896410T>C
NC_000001.11   g.247896410T>G
NC_000001.10   g.248059712T>A
NC_000001.10   g.248059712T>C
NC_000001.10   g.248059712T>G
NG_053132.1   g.5824T>A
NG_053132.1   g.5824T>C
NG_053132.1   g.5824T>G
NM_001001957.2   c

Protein Summary

• Protein general information: Q9HB58  
  • Name: Sp110 nuclear body protein (Interferon induced protein 41/75) (Speckled 110 kDa) (Transcriptional coactivator Sp110)
  • Length: 689  
  • Mass: 78396
  • Tissue specificity: Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidne
• Sequence:

  MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIPVSRVVHNILTQLERT
  FNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPILLEAPTGLAEGSSLHTPLALPPPQPPQPSCS
  PCAPRVSEPGTSSQQSDEILSESPSPSDPVLPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVAS
  DNLIPQIRDKEDPQEMPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGG
  TASSRHGIQKKLKRVDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNEGKRSQKTPSTPRRVT
  QGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCARKSRLKEKKKEKDICSSSKRRFQKNIHRRG
  KPKSDTVDFHCSKLPVTCGEAKGILYKKKMKHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTL
  GELLKRKNSDECEVCCQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQ
  PQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVGLDLEAEFEKDLKDVL
  GFHEANDGGFWTLP

• Structural information:
  • Protein Domains: (1..10-)
    (/note="HSR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00747-)
    (454..53-)
    (/note="SAND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00185-)
    (581..67-)
    (/note="Bromo"-)
  • Interpro: IPR001487  IPR036427  IPR004865  IPR010919  IPR000770   IPR019786  IPR011011  IPR001965  IPR019787  
  • Prosite: PS51414 PS50864 PS01359 PS50016
  • STRING: ENSP00000258381
• Other Databases: GeneCards:  SP110  Malacards:  SP110

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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Hepatic venoocclusive disease with immunodeficiency	KEGG:H01264
Hepatic venoocclusive disease with immunodeficiency	KEGG:H01264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881