SP140 - SP140 nuclear body protein Gene

Homo sapiens

Also known as LYSP100; LYSP100-A; LYSP100-B

Gene ID: 11262 | Gene type: protein coding

About SP140

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,186,151-230,316,571 (from NCBI)

This gene has 14 transcripts (splice variants), 96 orthologues and 20 paralogues. Biased expression in lymph node (RPKM 12.2), spleen (RPKM 7.6) and 10 other tissues.

Summary

This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]

SP140 Products(5)

mRNA	Protein	Name
NM_001005176.3	NP_001005176.1	nuclear body protein SP140 isoform 2
NM_001278451.2	NP_001265380.1	nuclear body protein SP140 isoform 3
NM_001278452.2	NP_001265381.1	nuclear body protein SP140 isoform 4
NM_001278453.2	NP_001265382.1	nuclear body protein SP140 isoform 5
NM_007237.5	NP_009168.4	nuclear body protein SP140 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24267382	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	25593309	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

SP140 Protein Structure

HSR

SAND

PHD

Bromodomain

0
200
400
600
800
867 a.a.

Protein Preferred Names

Protein Names

nuclear body protein SP140

lymphoid-restricted homolog of Sp100

Related Diseases

Diseases

Alias

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

Multiple Sclerosis

MS	Multiple Sclerosis, Susceptibility To
Disseminated Sclerosis	Multiple Sclerosis, Disease Progression, Modifier Of
Insular Sclerosis	Multiple Sclerosis Modifier Of Disease Progression
Multiple Sclerosis, Susceptibility To 1	Multiple Sclerosis, Susceptibility To, 1
Multiple Sclerosis 1	Generalized Multiple Sclerosis
Multiple Sclerosis Variant	Multiple Sclerosis Susceptibility To
Cerebrospinal Sclerosis	Generalised Multiple Sclerosis
Ms - [Multiple Sclerosis]	Disseminated Cerebrospinal Sclerosis
Disseminated Multiple Sclerosis	Disseminated Nervous System Myelosclerosis
Multiple Cerebrospinal Sclerosis	Multiple Combined Sclerosis
Multiple Sclerosis Generalised	Disseminated Brain Sclerosis
Disseminated Spinal Sclerosis	Insular Brain Sclerosis
Miliary Brain Sclerosis	Multiple Combined Sclerosis Of Spinal Cord
Multiple Ascending Sclerosis	Multiple Brain Sclerosis
Multiple Sclerosis Of Brain Stem	Multiple Sclerosis Of The Brain Stem
Multiple Sclerosis Of Cord	Sclérose En Plaques
Plaque Sclerosis	Multiple Sclerosis Of The Spinal Cord

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

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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148591	GSK761	Inhibitor	99.64%	Unkown
HY-RS13603	SP140 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS13604	SP140L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SP140	VGNC	VGNC:59096
Macaca mulatta	SP140	VGNC	VGNC:77936
Rattus norvegicus	SP140	RGD	RGD:1306355
Mus musculus	SP140	MGD	MGI:3702467

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