1. Gene
  2. SP110 - SP110 nuclear body protein Gene

SP110 - SP110 nuclear body protein Gene

中文名称:SP110 核体蛋白

种属: Homo sapiens

同用名: IPR1; VODI; IFI41; IFI75

基因 ID: 3431 | 基因类型: protein coding

关于 SP110

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:230,165,186-230,225,636 (from NCBI)

This gene has 21 transcripts (splice variants), 120 orthologues, 20 paralogues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 11.2), lymph node (RPKM 10.7) and 24 other tissues.

功能概要

核体是一种多蛋白复合物,可能在基因转录的调控中发挥作用。该基因是 SP100/SP140 核体蛋白家族的成员,编码白细胞特异性核体成分。该蛋白可作为基因转录的激活剂发挥作用,并可作为核激素受体共激活剂。此外,有人提出该蛋白质可能在核糖体生物发生和诱导骨髓细胞分化中发挥作用。已经观察到该基因的选择性剪接,并且已经鉴定出编码不同同种型的三种转录物变体。[RefSeq 提供,2008 年 7 月]

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 function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

SP110 基因产物(10)

mRNA Protein Name
NM_001185015.2 NP_001171944.1 sp110 nuclear body protein isoform d
NM_001378442.1 NP_001365371.1 sp110 nuclear body protein isoform 3
NM_001378443.1 NP_001365372.1 sp110 nuclear body protein isoform f
NM_001378444.1 NP_001365373.1 sp110 nuclear body protein isoform g
NM_001378445.1 NP_001365374.1 sp110 nuclear body protein isoform h
NM_001378446.1 NP_001365375.1 sp110 nuclear body protein isoform i
NM_001378447.1 NP_001365376.1 sp110 nuclear body protein isoform j
NM_004509.5 NP_004500.4 sp110 nuclear body protein isoform a
NM_004510.4 NP_004501.4 sp110 nuclear body protein isoform b
NM_080424.4 NP_536349.3 sp110 nuclear body protein isoform c
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
25593309 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SP110 蛋白结构

HSR

HSR: HSR domain (7 - 107)

SAND

SAND: SAND domain (455 - 533)

  • 0
  • 200
  • 400
  • 600
  • 689 a.a.
蛋白主名 其他名称

sp110 nuclear body protein

interferon-induced protein 41, 30kD

关联疾病

疾病名称 别名
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

Hepatic Veno-Occlusive Disease

Veno-Occlusive Disease

Sinusoidal Obstruction Syndrome

Hepatic Venoocclusive Disease

Venoocclusive Disease

Hepatic Vein Thrombosis

Budd-Chiari Syndrome

Hepatic Vein Occlusion

Veno-Occlusive Disease Of The Liver

Lipid Pneumonia

Exogenous Lipoid Pneumonia

Lipoid Pneumonitis

Pneumonia, Lipid

Pneumonia Lipid

Lipoid Pneumonia

Combined T And B Cell Immunodeficiency
Aspiration Pneumonitis

Chemical Pneumonitis

Mendelson'S Syndrome

Aspiration Pneumonia

Pneumonitis Due To Fumes And/Or Vapors

Toxic Pneumonitis

Mendelson'S Syndrome Resulting From A Procedure

Mendelson Syndrome Resulting From A Procedure

Pulmonary Acid Aspiration Syndrome

Pneumonitis Due To Inhalation Of Gastric Secretions

Mendelson Syndrome Due To Anaesthesia During Labour And Delivery

Inhalation Of Stomach Contents Or Secretions, Nos Due To Anaesthesia During Labour And Delivery

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SP110 VGNC VGNC:99405
Rattus norvegicus SP110 RGD RGD:1310173
Mus musculus SP110 MGD MGI:1923364
Bos taurus SP110 VGNC VGNC:106948
Canis familiaris SP110 VGNC VGNC:46685