2. Gene
  3. MBTPS1 - membrane bound transcription factor peptidase, site 1 Gene

MBTPS1 - membrane bound transcription factor peptidase, site 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：膜结合转录因子肽酶，位点 1

种属: Homo sapiens

同用名: S1P; PCSK8; SEDKF; SKI-1

基因 ID: 8720 | 基因类型: protein coding

关于 MBTPS1

Cytogenetic location: 16q23.3-q24.1 Genomic coordinates (GRCh38): 16:84,053,763-84,116,942 (from NCBI)

This gene has 17 transcripts (splice variants), 205 orthologues, 9 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 38.5), ovary (RPKM 28.3) and 25 other tissues.

功能概要

该基因编码枯草杆菌蛋白酶样原蛋白转化酶家族的一个成员，其中包括通过分泌途径的受调节或组成性分支处理蛋白质和肽前体运输的蛋白酶。编码的蛋白质在 ER 中经历初始自催化处理事件以生成异二聚体，该异二聚体离开 ER 并分类到顺式/内侧高尔基体，在那里发生第二个自催化事件并获得催化活性。它编码一种 1 型膜结合蛋白酶，该蛋白酶普遍表达并通过在非碱性残基处切割底物来调节胆固醇或脂质稳态。该基因的突变可能与溶酶体功能障碍有关。[RefSeq 提供，2014 年 2 月]

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates Cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

MBTPS1 基因产物(1)

mRNA Protein Name
NM_003791.4 NP_003782.1 membrane-bound transcription factor site-1 protease preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 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
34349020 GOA
enables serine-type endopeptidase activity EXP
EXP: 通过实验结果推断
11163209 GOA
enables serine-type endopeptidase activity IDA
IDA: 通过直接分析推断
21719679 GOA
enables serine-type endopeptidase activity IMP
IMP: 通过突变表型推断
21719679 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lysosome organization IMP
IMP: 通过突变表型推断
21719679 GOA
involved in protein maturation IDA
IDA: 通过直接分析推断
21719679 GOA
involved in protein maturation IMP
IMP: 通过突变表型推断
21719679 GOA
involved in protein processing IDA
IDA: 通过直接分析推断
34349020 GOA
involved in proteolysis IMP
IMP: 通过突变表型推断
21719679 GOA
involved in regulation of vesicle-mediated transport IMP
IMP: 通过突变表型推断
30046013 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in Golgi membrane EXP
EXP: 通过实验结果推断
9990022 GOA
is active in Golgi membrane IDA
IDA: 通过直接分析推断
9990022 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

MBTPS1 蛋白结构

Peptidase_S8

Peptidase_S8: Subtilase family (214 - 472)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1052 a.a.
蛋白主名 其他名称

membrane-bound transcription factor site-1 protease

endopeptidase S1P

关联疾病

疾病名称 别名
Spondyloepiphyseal Dysplasia, Kondo-Fu Type

SEDKF

Sed With Elevated Blood Lysosomal Enzymes

Spondyloepiphyseal Dysplasia Kondo-Fu Type
Lujo Hemorrhagic Fever

Zambian Hemorrhagic Fever
Bolivian Hemorrhagic Fever

Machupo Hemorrhagic Fever

Hemorrhagic Fever, Bolivian

Bhf - [Bolivian Haemorrhagic Fever]

Machupo Haemorrhagic Fever
Argentine Hemorrhagic Fever

Argentinian Hemorrhagic Fever

Junin Hemorrhagic Fever

Hemorrhagic Fever, Argentinian

Ahf - [Argentinian Haemorrhagic Fever]

Argentine Haemorrhagic Fever

Junin Haemorrhagic Fever
Pectus Carinatum

Carinatum Deformity Of The Chest
Lassa Fever

Lf

Lassa Hemorrhagic Fever

Lf - [Lassa Fever]
Venezuelan Hemorrhagic Fever

Guanarito Hemorrhagic Fever

Vehf - [Venezuelan Haemorrhagic Fever]
Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome
Brazilian Hemorrhagic Fever

Sabia Hemorrhagic Fever
Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy

Mucolipidosis Iii

Ml Iii Alpha/Beta

Mucolipidosis Iiia

Ml Iiia

Ml Iii

Ml 3 A

Ml3

Mucolipidosis Type 3a

Mucolipidosis Iii, Variant

Mucolipidosis Type Iii Alpha/Beta

Ml 3 Alpha/Beta

Mucolipidosis Type 3 Alpha/Beta

Mucolipidosis Type 3

Mucolipidosis Type Iii Complementation Group A

MLIIIA

Cariant Pseudo-Hurler Polydystrophy

Mucolipidosis, Type Iii Alpha/Beta

Mucolipidosis, Type Iii, Alpha/Beta
Mucolipidosis Iii Gamma

Pseudo-Hurler Polydystrophy

Mucolipidosis Type Iii Gamma

Ml Iii Gamma

Mucolipidosis Iiic

Ml Iiic

Mucolipidosis Type Iii

Mucolipidosis Iii, Complementation Group C

Mucolipidosis Iii, Iranian Variant Form

Mucolipidosis Iii, Variant Form

Mucolipidosis Iii

Mucolipidosis Iii, Variant

Ml 3 Gamma

Mucolipidosis Type 3 Gamma

Mucolipidosis Type Iii Complementation Group C

MLIIIC

Variant Pseudo-Hurler Polydystrophy

Mucolipidosis, Type Iii, Gamma
Crimean-Congo Hemorrhagic Fever

Crimean Hemorrhagic Fever

Cchf

Congo Hemorrhagic Fever

Hemorrhagic Fever, Crimean

Chf Congo Virus

Congo-Crimean Hemorrhagic Fever

Congo Fever

Hemorrhagic Fever Crimean-Congo

Cchf - [Crimean-Congo Haemorrhagic Fever]

Kara Mikh Typhoid Fever

Xīnjiāng Haemorrhagic Fever
Mucolipidosis Ii Alpha/Beta

I-Cell Disease

Mucolipidosis Type Ii

Mucolipidosis Ii

Icd

Inclusion Cell Disease

Inclusion-Cell Disease

I Cell Disease

Mucolipidosis 2

MLII

Ml Ii

Ml Ii Alpha/Beta

Gnpta

Leroy Disease

Ml 2

Ml Disorder Type 2

N-Acetylglucosamine 1phosphotransferase Deficiency

Mucolipidosis Type Ii Alpha/Beta

N-Acetylglucosamine 1-Phosphotransferase Deficiency

Deficiency Of N-Acetylglucosamine-1-Phosphotransferase

Mucolipidosis, Type Ii, Alpha/Beta

Ml2

Type Ii Mucolipidosis
Mucolipidosis
Brachydactyly
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08198 MBTPS1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20177 Mbtps1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26681 Mbtps1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MBTPS1 VGNC VGNC:74512
Canis familiaris MBTPS1 VGNC VGNC:43064
Mus musculus MBTPS1 MGD MGI:1927235
Bos taurus MBTPS1 VGNC VGNC:31291
Rattus norvegicus MBTPS1 RGD RGD:70935
Felis catus MBTPS1 VGNC VGNC:63408
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