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Gene Gene information from NCBI Gene database.
Entrez ID 6672
Gene name SP100 nuclear antigen
Gene symbol SP100
Synonyms (NCBI Gene)
lysp100b
Chromosome 2
Chromosome location 2q37.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT032264 hsa-let-7b-5p Proteomics 18668040
MIRT205503 hsa-miR-18a-5p PAR-CLIP 23592263
MIRT205506 hsa-miR-18b-5p PAR-CLIP 23592263
MIRT205510 hsa-miR-4735-3p PAR-CLIP 23592263
MIRT236388 hsa-miR-624-3p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IRF9 Activation 8681971
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60 Show/Hide all (60)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15247905
GO:0000723 Process Telomere maintenance IMP 15767676
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 14647468, 15247905, 16873258
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604585 11206 ENSG00000067066
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23497
Protein name Nuclear autoantigen Sp-100 (Nuclear dot-associated Sp100 protein) (Speckled 100 kDa)
Protein function Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 769 → 837 HMG (high mobility group) box Domain
PF01342 SAND 599 → 675 SAND domain Family
PF03172 HSR 49 → 147 HSR domain Domain
PF09011 HMG_box_2 684 → 752 HMG-box domain Domain
Tissue specificity 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
MAGGGGDLSTRRLNECISPVANEMNHLPAHSHDLQRMFTEDQGVDDRLLYDIVFKHFKRN
KVEISNAIKKTFPFLEGLRDRDLITNKMFEDSQDSCRNLVPVQRVVYNVLSELEKTFNLP
VLEALFSDVNMQEYPDLIHIYKGFENV
IHDKLPLQESEEEEREERSGLQLSLEQGTGENS
FRSLTWPPSGSPSHAGTTPPENGLSEHPCETEQINAKRKDTTSDKDDSLGSQQTNEQCAQ
KAEPTESCEQIAVQVNNGDAGREMPCPLPCDEESPEAELHNHGIQINSCSVRLVDIKKEK
PFSNSKVECQAQARTHHNQASDIIVISSEDSEGSTDVDEPLEVFISAPRSEPVINNDNPL
ESNDEKEGQEATCSRPQIVPEPMDFRKLSTFRESFKKRVIGQDHDFSESSEEEAPAEASS
GALRSKHGEKAPMTSRSTSTWRIPSRKRRFSSSDFSDLSNGEELQETCSSSLRRGSGSQP
QEPENKKCSCVMCFPKGVPRSQEARTESSQASDMMDTMDVENNSTLEKHSGKRRKKRRHR
SKVNGLQRGRKKDRPRKHLTLNNKVQKKRWQQRGRKANTRPLKRRRKRGPRIPKDENINF
KQSELPVTCGEVKGTLYKERFKQGTSKKCIQSEDKKWFTPREFEIEGDRGASKNWKLSIR
CGGYTLKVLMENKFL
PEPPSTRKKRILESHNNTLVDPCEEHKKKNPDASVKFSEFLKKCS
ETWKTIFAKEKGKFEDMAKADKAHYEREMKTY
IPPKGEKKKKFKDPNAPKRPPLAFFLFC
SEYRPKIKGEHPGLSIDDVVKKLAGMWNNTAAADKQFYEKKAAKLKEKYKKDIAAYR
AKG
KPNSAKKRVVKAEKSKKKKEEEEDEEDEQEEENEEDDDK
Sequence length 879
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Herpes simplex virus 1 infection SUMOylation of DNA damage response and repair proteins
Viral carcinogenesis Interferon gamma signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Hereditary breast ovarian cancer syndrome Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (29)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10921892, 15470359, 18844582, 24089549, 30260704, 9230084
★★★★★
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 17693401 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 8986606, 9089912
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 21274506
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33617509 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 25884818 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 35971449 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35978049 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 31779701 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatomyositis Dermatomyositis Pubtator 32846838 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only