1. Gene
  2. SP100 - SP100 nuclear antigen Gene

SP100 - SP100 nuclear antigen Gene

Homo sapiens

Also known as lysp100b

Gene ID: 6672 | Gene type: protein coding

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

SP100 Protein Structure

HSR

HSR: HSR domain (48 - 150)

SAND

SAND: SAND domain (596 - 675)

HMG_box_2

HMG_box_2: HMG-box domain (698 - 752)

HMG_box

HMG_box: HMG (high mobility group) box (769 - 837)

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  • 879 a.a.
Protein Preferred Names Protein Names

nuclear autoantigen Sp-100

SP100-HMG nuclear autoantigen

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

Orthologs Information

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