1. Gene
  2. SP140 - SP140 nuclear body protein Gene

SP140 - SP140 nuclear body protein Gene

中文名称:SP140 核体蛋白

种属: Homo sapiens

同用名: LYSP100; LYSP100-A; LYSP100-B

基因 ID: 11262 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 SP100 蛋白家族的一个成员,它们共享共同结构域,包括一个 N 端均匀染色区域结构域,然后是一个 SP100/自身免疫调节剂/NucP41/P75/变形表皮自身调节因子结构域,一个植物同源盒锌指结构域,和溴结构域。编码的蛋白质是干扰素诱导型的,在白细胞核中以高水平表达。该基因的变体与多发性硬化症、克罗恩病和慢性淋巴细胞白血病有关。可变剪接导致多种变体。[RefSeq 提供,2016 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24267382 GOA
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

SP140 蛋白结构

HSR

HSR: HSR domain (37 - 138)

SAND

SAND: SAND domain (580 - 660)

PHD

PHD: PHD-finger (693 - 735)

Bromodomain

Bromodomain: Bromodomain (794 - 836)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 867 a.a.
蛋白主名 其他名称

nuclear body protein SP140

lymphoid-restricted homolog of Sp100

SP140 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SP140 Q13342 PIN1 Homo sapiens Q13526
NMR
24267382
种属间: 跨种属相互作用 种属内: 同种属相互作用

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

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

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