SAR1B - secretion associated Ras related GTPase 1B Gene

中文名称：分泌相关的 Ras 相关 GTPase 1B

种属: Homo sapiens

同用名: ANDD; CMRD; GTBPB; SARA2

基因 ID: 51128 | 基因类型: protein coding

关于 SAR1B

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:134,601,149-134,632,828 (from NCBI)

This gene has 11 transcripts (splice variants), 119 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 17.3), small intestine (RPKM 16.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种小 GTP 酶，可作为同型二聚体。编码的蛋白质被鸟嘌呤核苷酸交换因子 PREB 激活，并参与从内质网到高尔基体的蛋白质运输。这种蛋白质是 COPII 外壳复合物的一部分。该基因的缺陷是导致乳糜微粒滞留病 (CMRD) 的原因，也称为安德森病 (ANDD) 。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供，2010 年 3 月]

The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

SAR1B 基因产物(2)

mRNA	Protein	Name
NM_001033503.3	NP_001028675.1	GTP-binding protein SAR1b
NM_016103.4	NP_057187.1	GTP-binding protein SAR1b

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 G protein activity	IDA IDA: 通过直接分析推断	32358066	GOA
enables amino acid sensor activity	IDA IDA: 通过直接分析推断	34290409	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in COPII vesicle coating	IDA IDA: 通过直接分析推断	32358066	GOA
involved in COPII vesicle coating	IMP IMP: 通过突变表型推断	23433038	GOA
involved in COPII-coated vesicle cargo loading	IDA IDA: 通过直接分析推断	32358066	GOA
involved in COPII-coated vesicle cargo loading	IMP IMP: 通过突变表型推断	23433038	GOA
involved in cellular response to leucine starvation	IMP IMP: 通过突变表型推断	34290409	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA IDA: 通过直接分析推断	32358066	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: 通过突变表型推断	23433038	GOA
involved in lipid homeostasis	IDA IDA: 通过直接分析推断	34015269	GOA
involved in lipoprotein transport	IDA IDA: 通过直接分析推断	32358066	GOA
involved in negative regulation of TORC1 signaling	IMP IMP: 通过突变表型推断	34290409	GOA
involved in regulation of TORC1 signaling	IDA IDA: 通过直接分析推断	34290409	GOA
involved in regulation of lipid transport	IDA IDA: 通过直接分析推断	34015269	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of COPII vesicle coat	IDA IDA: 通过直接分析推断	32358066	GOA
located in cytosol	IDA IDA: 通过直接分析推断	34290409	GOA
is active in endoplasmic reticulum exit site	IDA IDA: 通过直接分析推断	33186557	GOA
is active in endoplasmic reticulum exit site	IMP IMP: 通过突变表型推断	23433038	GOA
is active in lysosomal membrane	IDA IDA: 通过直接分析推断	34290409	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

SAR1B 蛋白结构

Arf

0
100
198 a.a.

蛋白主名

其他名称

GTP-binding protein SAR1b

2310075M17Rik

SAR1B 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
Intra	SAR1B	Q9Y6B6	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	SAR1B	Q9Y6B6	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	SAR1B	Q9Y6B6	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	SAR1B	Q9Y6B6	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183

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

Chylomicron Retention Disease

CMRD	Anderson Disease
Lipid Transport Defect Of Intestine	Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells
Andd	Anderson Syndrome
Crd	Andersons Disease
Malabsorption Syndrome

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia	Familial Hypobetalipoproteinemia 1
Familial Hypobetalipoproteinemia	FHBL1
Hypobetalipoproteinemia, Familial	Fhbl
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemias
Hypobetalipoproteinemia, Normotriglyceridemic	Hypo-Beta-Lipoproteinemia
Hypobetalipoprotéinemia, Familial	Normotriglyceridemic Hypobetalipoproteinemia
Hypobetalipoproteinemia, Familial, Type 1

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome	CLSD
Cranio-Lenticulo-Sutural Dysplasia	Cranio-Lenticulo-Sutural Dysplasia, Clsd

Anemia, Congenital Dyserythropoietic, Type Ii

Congenital Dyserythropoietic Anemia Type Ii	CDAN2
Cda Ii	Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test
Cda Type Ii	Congenital Dyserythropoietic Anemia Type 2
Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test	Sec23b-Cdg
Congenital Dyserythropoietic Anemia, Type Ii	Dyserythropoietic Anemia, Hempas Type
Hempas	Cda Type 2
Dyserythropoietic Anemia, Congenital, Type Ii	Cda, Type Ii
Congenital Dyserythropoietic Anaemia Type 2	Congenital Dyserythropoietic Anaemia Type Ii
Anemia, Dyserythropoietic, Congenital Type 2	Hempas Anemia
Dyserythropoietic Anemia, Congenital Type 2	Anemia, Congenital Dyserythropoietic, 2
Dyserythropoietic Anemia Hempas Type	Anemia, Dyserythropoietic Congenital, Type Ii
Anemia, Dyserythropoietic, Congenital, Type Ii

Hypolipoproteinemia

Hypolipoproteinaemia	Lipoprotein Deficiencies
Lipoprotein Disorder	Hypolipoproteinemias
Lipoprotein	Lipoprotein Deficiency
Hypolipidaemia	Lipoprotein Deficiency Disorder
High-Density Lipoid Deficiency	High-Density Lipoprotein Deficiency
Dyslipidaemia, Depressed Hdl Cholesterol

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome	MSS
Marinesco-Garland Syndrome	Garland-Moorhouse Syndrome
Hereditary Oligophrenic Cerebello-Lental Degeneration	Oligophrenic Cerebellolenticular Degeneration
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism	Marinesco-Sjogren Syndrome-Myopathy
Marinesco-Sjogren-Garland Syndrome	Marinesco-Sjoegren Syndrome

Abetalipoproteinemia

Acanthocytosis	ABL
Bassen-Kornzweig Syndrome	Mtp Deficiency
Familial Hypobetalipoproteinemia	Abetalipoproteinaemia
Microsomal Triglyceride Transfer Protein Deficiency	Microsomal Triglyceride Transfer Protein Deficiency Disease
Abetalipoproteinemia Neuropathy	Apolipoprotein B Deficiency
Bassen-Kornzweig Disease	Betalipoprotein Deficiency Disease
Congenital Betalipoprotein Deficiency Syndrome	Homozygous Familial Hypobetalipoproteinemia
Fhbl	Bassen Kornzweig Syndrome
Hypobetalipoproteinemia, Familial	Hypobetalipoproteinemia
Hypobetalipoproteinemias	Hypobetalipoproteinemia, Familial, Apolipoprotein B

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2	FHBL2
Hypolipidemia, Familial, Combined	Combined Familial Hypolipidemia
Combined Hypobetalipoproteinemia Familial	Hypobetalipoproteinemia, Familial, Type 2

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12443	SAR1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SAR1B	RGD	RGD:1305590
Canis familiaris	SAR1B	VGNC	VGNC:45865
Bos taurus	SAR1B	VGNC	VGNC:34287
Macaca mulatta	SAR1B	VGNC	VGNC:76970
Felis catus	SAR1B	VGNC	VGNC:64873
Mus musculus	SAR1B	MGD	MGI:1913647

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SAR1B - secretion associated Ras related GTPase 1B Gene

关于 SAR1B

功能概要

SAR1B 基因产物(2)

SAR1B 蛋白结构

SAR1B 蛋白互作信息

关联疾病

直系同源

热门区域

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SAR1B - secretion associated Ras related GTPase 1B Gene

关于 SAR1B

功能概要

SAR1B 基因产物(2)

SAR1B 蛋白结构

SAR1B 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z