SP100 - SP100 nuclear antigen Gene

Also Known as lysp100b

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6672

About SP100

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,416,201-230,545,606 (from NCBI)

This gene has 19 transcripts (splice variants), 252 orthologues and 20 paralogues. Ubiquitous expression in lymph node (RPKM 13.9), bone marrow (RPKM 12.8) and 25 other tissues.

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 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]

SP100 Products (6)

mRNA	Protein	Name
NM_001080391.2	NP_001073860.1	nuclear autoantigen Sp-100 isoform 1
NM_001206701.2	NP_001193630.1	nuclear autoantigen Sp-100 isoform 3
NM_001206702.2	NP_001193631.1	nuclear autoantigen Sp-100 isoform 4
NM_001206703.2	NP_001193632.1	nuclear autoantigen Sp-100 isoform 5
NM_001206704.2	NP_001193633.1	nuclear autoantigen Sp-100 isoform 6
NM_003113.4	NP_003104.2	nuclear autoantigen Sp-100 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	14647468	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	11909962	GOA
enables chromo shadow domain binding	IPI IPI: Inferred from physical interaction	9636147	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	9636146	GOA
enables kinase binding	IPI IPI: Inferred from physical interaction	14647468	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9636146	GOA
enables protein dimerization activity	IPI IPI: Inferred from physical interaction	9636146	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	9636147	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	9636146	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response, signal transduction by p53 class mediator	IDA IDA: Inferred from direct assay	14647468	GOA
involved in maintenance of protein location	IDA IDA: Inferred from direct assay	12470659	GOA
involved in negative regulation of DNA binding	IDA IDA: Inferred from direct assay	15247905	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15247905	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9636147	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	9636146	GOA
involved in negative regulation of endothelial cell migration	IMP IMP: Inferred from mutant phenotype	15592518	GOA
involved in negative regulation of protein export from nucleus	IMP IMP: Inferred from mutant phenotype	17245429	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15247905	GOA
involved in negative regulation of viral transcription	IDA IDA: Inferred from direct assay	16873258	GOA
involved in positive regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11909962	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11909962	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14647468	GOA
involved in regulation of Fas signaling pathway	IMP IMP: Inferred from mutant phenotype	17245429	GOA
involved in regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	15592518	GOA
involved in regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP IMP: Inferred from mutant phenotype	17245429	GOA
involved in response to cytokine	IDA IDA: Inferred from direct assay	9412458	GOA
involved in response to retinoic acid	IDA IDA: Inferred from direct assay	11313457	GOA
involved in response to type I interferon	IDA IDA: Inferred from direct assay	9230084	GOA
involved in response to type I interferon	IMP IMP: Inferred from mutant phenotype	8810287	GOA
involved in response to type II interferon	IDA IDA: Inferred from direct assay	9230084	GOA
involved in response to type II interferon	IMP IMP: Inferred from mutant phenotype	8810287	GOA
involved in telomere maintenance	IMP IMP: Inferred from mutant phenotype	15767676	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Mre11 complex	IDA IDA: Inferred from direct assay	15767676	GOA
located in PML body	IDA IDA: Inferred from direct assay	9230084	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9412458	GOA
located in nuclear periphery	IDA IDA: Inferred from direct assay	11313457	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	9973607	GOA
located in nucleolus	IMP IMP: Inferred from mutant phenotype	11313457	GOA
located in nucleus	IDA IDA: Inferred from direct assay	2258622	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SP100 Protein Structure

HSR

SAND

HMG_box_2

HMG_box

0
200
400
600
800
879 a.a.

Protein Preferred Names	Protein Names
nuclear autoantigen Sp-100	SP100-HMG nuclear autoantigen

SP100 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SP100	P23497	HEL25	Homo sapiens	V9HWG0	Validated Y2H	25416956
Intra	SP100	P23497	HEL25	Homo sapiens	V9HWG0	Y2H Array	25416956
Intra	SP100	P23497	HEL25	Homo sapiens	V9HWG0	Y2H Prey Pooling	25416956
Intra	SP100	P23497	AMOTL2	Homo sapiens	Q9Y2J4-4	Y2H Prey Pooling	25416956
Intra	SP100	P23497	AMOTL2	Homo sapiens	Q9Y2J4-4	Y2H Array	25416956
Intra	SP100	P23497	RTP5	Homo sapiens	Q14D33	Validated Y2H	25416956
Intra	SP100	P23497	q59gp6_human	Homo sapiens	Q59GP6	Validated Y2H	25416956
Intra	SP100	P23497	q59gp6_human	Homo sapiens	Q59GP6	Y2H Prey Pooling	25416956
Intra	SP100	P23497	q59gp6_human	Homo sapiens	Q59GP6	Y2H Array	25416956
Intra	SP100	P23497	CASP8AP2	Homo sapiens	Q9UKL3	Imaging	17245429
Intra	SP100	P23497	CASP8AP2	Homo sapiens	Q9UKL3	Anti Tag CoIP	17245429
Intra	SP100	P23497	SUMO3	Homo sapiens	P55854	Anti Bait CoIP	17000644
Intra	SP100	P23497	ZC2HC1A	Homo sapiens	Q96GY0	Validated Y2H	25416956
Intra	SP100	P23497	ZC2HC1A	Homo sapiens	Q96GY0	Y2H Prey Pooling	25416956
Intra	SP100	P23497	RBM39	Homo sapiens	Q14498-3	Validated Y2H	25416956
Intra	SP100	P23497	RBM39	Homo sapiens	Q14498-3	Y2H Prey Pooling	25416956
Intra	SP100	P23497	GIPC2	Homo sapiens	Q8TF65	Validated Y2H	25416956
Intra	SP100	P23497	DYRK2	Homo sapiens	Q92630	Y2H Array	25416956
Intra	SP100	P23497	TRAF3IP3	Homo sapiens	Q9Y228	Validated Y2H	25416956
Intra	SP100	P23497	TRAF3IP3	Homo sapiens	Q9Y228	Y2H Array	25416956
Intra	SP100	P23497	ACTN2	Homo sapiens	P35609	Y2H Array	31515488
Intra	SP100	P23497	ACTN2	Homo sapiens	P35609	Validated Y2H	25416956
Intra	SP100	P23497	ACTN2	Homo sapiens	P35609	Y2H Prey Pooling	25416956
Intra	SP100	P23497	SUMO1	Homo sapiens	P63165	Validated Y2H	25416956
Intra	SP100	P23497	SUMO1	Homo sapiens	P63165	Y2H Prey Pooling	25416956
Intra	SP100	P23497	SUMO1	Homo sapiens	P63165	Y2H Array	25416956
Intra	SP100	P23497	SUMO1	Homo sapiens	P63165	Y2H	21880768
Intra	SP100	P23497	SUMO1	Homo sapiens	P63165	BiFC	25416956
Intra	SP100	P23497	SUMO1	Homo sapiens	P63165	Y2H Pooling	16189514
Intra	SP100	P23497	ETS1	Homo sapiens	P14921	Anti Bait CoIP	15247905
Cross	SP100	P23497	UL123	Human cytomegalovirus	P03169	Anti Tag CoIP	21880768

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Herpes Simplex	Herpes Simplex Infections Herpesvirus Hominis Disease Herpes Simplex Disease Herpesviral Infection Due To Herpes Simplex Infections Due To Simplex Virus Herpes Nos
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Cholangitis	Acute Cholangiolitis Ascending Cholangitis Cholangiolitis Cholangitis Nos Chronic Cholangiolitis Hepatic Duct Inflammation Acute Cholangitis Bile Duct Inflammation
Chronic Cholangitis
Autoimmune Cholangitis	Autoimmune Cholangiopathy
Crest Syndrome
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Amelogenesis Imperfecta, Type Ie	Aih1 Amelogenesis Imperfecta Type 1e AI1E Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1 Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth Enamel Hypoplasia, X-Linked Amelogenesis Imperfecta Type Ie Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1 Enamel Hypoplasia X-Linked Amelogenesis Imperfecta, X-Linked 1 Amelogenesis Imperfecta, Type 1e Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth X-Linked Amelogenesis Imperfecta 1 X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1 X-Linked Enamel Hypoplasia Amelogenesis Imperfecta X-Linked 1 Amelogenesis Imperfecta 1e Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth Xai X-Linked Amelogenesis Imperfecta Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Suppurative Cholangitis
Meckel Syndrome, Type 7	Meckel Syndrome 7 Nphp3-Related Meckel-Like Syndrome MKS7 Goldston Syndrome Meckel Syndrome Type 7 Meckel-Like Syndrome Type 1 Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst Meckel-Gruber Syndrome, Type 7 Dandy-Walker Cyst With Renal-Hepatic-Pancreatic Dysplasia
Viral Infectious Disease	Viral Disease Arbovirus Infections Virus Infection Virus Diseases Viral Infection Viral Infections Virus Infections
Sclerosing Cholangitis	Fibrosing Cholangitis Cholangitis, Sclerosing Primary Sclerosing Cholangitis
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-A0084	Procainamide hydrochloride		99.52%	Unkown
HY-A0084A	Procainamide		99.80%	Unkown

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-A0084AS	Procainamide-d4		/	Unkown
HY-A0084S	Procainamide-d4 hydrochloride		/	Unkown
HY-RS13601	SP100 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18297	Sp100 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24775	Sp100 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SP100	MGD	MGI:109561
Rattus norvegicus	SP100	RGD	RGD:1359550
Canis familiaris	SP100	VGNC	VGNC:59095
Others	SP100	NCBI