ARFGEF1 - ADP ribosylation factor guanine nucleotide exchange factor 1 Gene

中文名称：ADP 核糖基化因子鸟嘌呤核苷酸交换因子 1

种属: Homo sapiens

同用名: BIG1; P200; DEDISB; ARFGEP1

基因 ID: 10565 | 基因类型: protein coding

关于 ARFGEF1

Cytogenetic location: 8q13.2 Genomic coordinates (GRCh38): 8:67,173,511-67,343,781 (from NCBI)

This gene has 8 transcripts (splice variants), 238 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 17.7), thyroid (RPKM 13.6) and 25 other tissues.

功能概要

ADP-核糖基化因子 (ARF) 在细胞内囊泡运输中起重要作用。由该基因编码的蛋白质通过加速用 GTP 替换结合的 GDP，参与 ARF 的激活。它包含一个 Sec7 结构域，可能负责鸟嘌呤-核苷酸交换活性以及 brefeldin A 抑制。[RefSeq 提供，2011 年 8 月]

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]

ARFGEF1 基因产物(15)

mRNA	Protein	Name
NM_001413184.1	NP_001400113.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 1
NM_001413185.1	NP_001400114.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2
NM_001413186.1	NP_001400115.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 3
NM_001413187.1	NP_001400116.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 4
NM_001413188.1	NP_001400117.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5
NM_001413189.1	NP_001400118.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2
NM_001413190.1	NP_001400119.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 6
NM_001413191.1	NP_001400120.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 7
NM_001413192.1	NP_001400121.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 8
NM_001413193.1	NP_001400122.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 9
NM_001413194.1	NP_001400123.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 10
NM_001413195.1	NP_001400124.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 11
NM_001413196.1	NP_001400125.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 12
NM_001413197.1	NP_001400126.1	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5
NM_006421.5	NP_006412.2	brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 1

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
NOT enables GTPase activator activity	IDA IDA: 通过直接分析推断	15644318	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	15644318	GOA
enables myosin binding	IPI IPI: 通过物理相互作用推断	15644318	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10716990	GOA
enables protein kinase A regulatory subunit binding	IDA IDA: 通过直接分析推断	12571360	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi organization	IMP IMP: 通过突变表型推断	17227842	GOA
involved in endomembrane system organization	IMP IMP: 通过突变表型推断	20360857	GOA
involved in negative regulation of GTPase activity	IDA IDA: 通过直接分析推断	15644318	GOA
involved in negative regulation of actin filament polymerization	IMP IMP: 通过突变表型推断	22084092	GOA
involved in positive regulation of wound healing	IMP IMP: 通过突变表型推断	22084092	GOA
acts upstream of positive effect protein glycosylation	IMP IMP: 通过突变表型推断	17227842	GOA
involved in regulation of establishment of cell polarity	IMP IMP: 通过突变表型推断	22084092	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi membrane	IDA IDA: 通过直接分析推断	10716990	GOA
located in cytosol	IDA IDA: 通过直接分析推断	10716990	GOA
located in nucleolus	IDA IDA: 通过直接分析推断	14973189	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	22084092	GOA
part of small nuclear ribonucleoprotein complex	IDA IDA: 通过直接分析推断	18292223	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

ARFGEF1 蛋白结构

Sec7_N

Sec7

DUF1981

0
300
600
900
1200
1500
1849 a.a.

蛋白主名

其他名称

brefeldin A-inhibited guanine nucleotide-exchange protein 1

ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)

ARFGEF1 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	ARFGEF1	Q9Y6D6	KANK1	Homo sapiens	Q14678	Anti Tag CoIP	22084092
种属内	ARFGEF1	Q9Y6D6	KANK1	Homo sapiens	Q14678	Anti Bait CoIP	22084092
种属内	ARFGEF1	Q9Y6D6	KIF21A	Homo sapiens	Q7Z4S6	Anti Bait CoIP	22084092
种属内	ARFGEF1	Q9Y6D6	KIF21A	Homo sapiens	Q7Z4S6	Confocal	19020088
种属内	ARFGEF1	Q9Y6D6	ARFGEF2	Homo sapiens	Q9Y6D5	Anti Bait CoIP	19332778
种属内	ARFGEF1	Q9Y6D6	ARFGEF2	Homo sapiens	Q9Y6D5	Anti Bait CoIP	22084092
种属内	ARFGEF1	Q9Y6D6	ARFGEF2	Homo sapiens	Q9Y6D5	Anti Tag CoIP	35271311
种属内	ARFGEF1	Q9Y6D6	ARFGEF2	Homo sapiens	Q9Y6D5	GMS	19332778
种属内	ARFGEF1	Q9Y6D6	NCL	Homo sapiens	P19338	Anti Bait CoIP	18292223
种属内	ARFGEF1	Q9Y6D6	MYO9B	Homo sapiens	Q13459-2	Pull Down	15644318
种属内	ARFGEF1	Q9Y6D6	KIF21A	Homo sapiens	Q7Z4S6-2	Anti Tag CoIP	19020088
种属内	ARFGEF1	Q9Y6D6	MYCBP	Homo sapiens	Q99417	Anti Tag CoIP	35271311
种属内	ARFGEF1	Q9Y6D6	MYCBP	Homo sapiens	Q99417	Imaging	16866877
种属内	ARFGEF1	Q9Y6D6	PDE3A	Homo sapiens	Q14432	Anti Bait CoIP	19332778
种属内	ARFGEF1	Q9Y6D6	PDE3A	Homo sapiens	Q14432	GMS	19332778

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

Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures

DEDISB

Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1	Mrx18
Mrx78	X-Linked Mental Retardation 1/78
X-Linked Mental Retardation 18

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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-RS00902	ARFGEF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	ARFGEF1	VGNC	VGNC:38035
Felis catus	ARFGEF1	VGNC	VGNC:59868
Rattus norvegicus	ARFGEF1	RGD	RGD:1560793
Bos taurus	ARFGEF1	VGNC	VGNC:26064
Mus musculus	ARFGEF1	MGD	MGI:2442988
Macaca mulatta	ARFGEF1	VGNC	VGNC:69834

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