GDI1 - GDP dissociation inhibitor 1 Gene

中文名称：GDP 解离抑制因子 1

种属: Homo sapiens

同用名: 1A; GDIL; MRX41; MRX48; OPHN2; XAP-4; XLID41; RABGD1A; RABGDIA

基因 ID: 2664 | 基因类型: protein coding

关于 GDI1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,437,154-154,443,467 (from NCBI)

This gene has 15 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 222.9), adrenal (RPKM 45.3) and 22 other tissues.

功能概要

GDP 解离抑制剂是调节 rab 家族成员 GDP-GTP 交换反应的蛋白质，Ras 超家族的小 GTP 结合蛋白，参与细胞器之间分子的囊泡运输。 GDI 减缓了 GDP 从 rab 蛋白的解离速度，并从膜结合的 rabs 中释放 GDP。 GDI1 主要在神经和感觉组织中表达。 GDI1 突变与 X 连锁非特异性认知障碍有关。[RefSeq 提供，2008 年 7 月]

GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the Ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]

GDI1 基因产物(1)

mRNA	Protein	Name
NM_001493.3	NP_001484.1	rab GDP dissociation inhibitor alpha

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 GDP-dissociation inhibitor activity	IDA IDA: 通过直接分析推断	35343654	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11809807	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of protein targeting to membrane	IMP IMP: 通过突变表型推断	23815289	GOA
involved in positive regulation of toll-like receptor signaling pathway	IDA IDA: 通过直接分析推断	35343654	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in endoplasmic reticulum	IDA IDA: 通过直接分析推断	35343654	GOA
located in midbody	IDA IDA: 通过直接分析推断	15166316	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

GDI1 蛋白结构

GDI

0
100
200
300
400
447 a.a.

蛋白主名

其他名称

rab GDP dissociation inhibitor alpha

GDI-1

GDI1 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	GDI1	P31150	USP25	Homo sapiens	Q9UHP3	Anti Tag CoIP	33961781
种属内	GDI1	P31150	USP25	Homo sapiens	Q9UHP3	Anti Tag CoIP	28514442
种属内	GDI1	P31150	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	33961781
种属内	GDI1	P31150	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	26496610
种属内	GDI1	P31150	RAB1A	Homo sapiens	P62820	Anti Tag CoIP	35271311
种属内	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	28514442
种属内	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	35271311
种属内	GDI1	P31150	RAB4A	Homo sapiens	P20338	FRET	19570034
种属内	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	26496610
种属内	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	33961781
种属内	GDI1	P31150	RAB4A	Homo sapiens	P20338	Anti Tag CoIP	19570034
种属内	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
种属内	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25910212
种属内	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Bait-Prey Pool	25910212
种属内	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25910212
种属内	GDI1	P31150	LNX1	Homo sapiens	Q8TBB1	Y2H Array	25416956
种属间	GDI1	P31150	Rab10	Mus musculus	P61027	FRET	19570034

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

Intellectual Developmental Disorder, X-Linked 41

XLID41	Mrx41
Mental Retardation, X-Linked 48	Mrx48

Non-Syndromic X-Linked Intellectual Disability

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

Non-Syndromic X-Linked Intellectual Disability 41

Mrx41	Mrx48
X-Linked Mental Retardation 48

Non-Syndromic X-Linked Intellectual Disability 106

Mrx106

X-Linked Mental Retardation 106

Non-Syndromic X-Linked Intellectual Disability 72

Mrx72

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda	X-Linked Spondyloepiphyseal Dysplasia Tarda
SEDT	Sed Tarda, X-Linked
Spondyloepiphyseal Dysplasia, Late	Spondyloepiphyseal Dysplasia Tarda X-Linked
Sed	X Linked Spondyloepiphyseal Dysplasia Tarda
X-Linked Spondyloepiphyseal Dysplasia	Late Onset Spondyloepiphyseal Dysplasia
Sed Tarda	X-Linked Sed
X-Linked Sedt	Dysplasia, Spondyloepiphyseal, Tarda
Spondyloepiphyseal Dysplasia

Martsolf Syndrome 1

Martsolf Syndrome	Cataract-Intellectual Disability-Hypogonadism Syndrome
MARTS1	Marts
Cataract-Mental Retardation-Hypogonadism	Martsolf

Gene Duplication Disease

Gene Duplication Syndrome

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

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-RS05359	GDI1 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	GDI1	RGD	RGD:2676
Felis catus	GDI1	VGNC	VGNC:62506
Macaca mulatta	GDI1	VGNC	VGNC:72910
Mus musculus	GDI1	MGD	MGI:99846
Bos taurus	GDI1	VGNC	VGNC:29307

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