TBC1D25 - TBC1 domain family member 25 Gene

中文名称：TBC1 域家族成员 25

种属: Homo sapiens

同用名: MG81; OATL1

基因 ID: 4943 | 基因类型: protein coding

关于 TBC1D25

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,539,714-48,562,609 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues and 45 paralogues. Ubiquitous expression in testis (RPKM 5.6), brain (RPKM 5.2) and 25 other tissues.

功能概要

该基因编码具有 TBC 结构域的蛋白质，并作为 Rab GTPase 激活蛋白发挥作用。编码的蛋白质参与自噬体与核内体和溶酶体的融合。该基因以前被称为鸟氨酸氨基转移酶样 1，但与鸟氨酸氨基转移酶没有相似性。[RefSeq 提供，2017 年 1 月]

This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]

TBC1D25 基因产物(5)

mRNA	Protein	Name
NM_001348262.2	NP_001335191.1	TBC1 domain family member 25 isoform a
NM_001348263.2	NP_001335192.1	TBC1 domain family member 25 isoform b
NM_001348264.2	NP_001335193.1	TBC1 domain family member 25 isoform d
NM_001348265.2	NP_001335194.1	TBC1 domain family member 25 isoform d
NM_002536.4	NP_002527.1	TBC1 domain family member 25 isoform c

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 GTPase activator activity	IDA IDA: 通过直接分析推断	21383079	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21383079	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of autophagosome maturation	IMP IMP: 通过突变表型推断	21383079	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in autophagosome	IDA IDA: 通过直接分析推断	21383079	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

TBC1D25 蛋白结构

RabGAP-TBC

0
200
400
600
688 a.a.

蛋白主名

其他名称

TBC1 domain family member 25

5SN3 snoRNA

TBC1D25 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	TBC1D25	Q3MII6	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	LGALS14	Homo sapiens	Q8TCE9	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	TRIML2	Homo sapiens	Q8N7C3	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	LMNTD2	Homo sapiens	Q8IXW0	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	LARP1B	Homo sapiens	Q659C4-6	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	KCNIP1	Homo sapiens	Q9NZI2-2	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	MAP1LC3C	Homo sapiens	Q9BXW4	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	RUSC1	Homo sapiens	Q9BVN2	Validated Y2H	32296183
Intra	TBC1D25	Q3MII6	GABARAPL2	Homo sapiens	P60520	Anti Tag CoIP	28514442
Intra	TBC1D25	Q3MII6	GABARAPL2	Homo sapiens	P60520	Anti Tag CoIP	33961781
Intra	TBC1D25	Q3MII6	GABARAPL1	Homo sapiens	Q9H0R8	Anti Tag CoIP	33961781
Intra	TBC1D25	Q3MII6	GABARAPL1	Homo sapiens	Q9H0R8	Anti Tag CoIP	28514442
Intra	TBC1D25	Q3MII6	GABARAPL1	Homo sapiens	Q9H0R8	Validated Y2H	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

Oligospermia

Non-Syndromic X-Linked Intellectual Disability 9

Mrx44	Mrx9
X-Linked Mental Retardation 44

Spindle Cell Synovial Sarcoma

Synovial Sarcoma With Spindle Cell Components	Synovial Sarcoma, Monophasic Fibrous
Synovial Sarcoma, Spindle Cell

Aland Island Eye Disease

AIED	Forsius-Eriksson Type Ocular Albinism
Forsius-Eriksson Syndrome	Autoimmune Inner Ear Disease
Forsius Eriksson Type Ocular Albinism	Aland Islands Eye Disease
Aaland Island Eye Disease	Ocular Albinism, Type Ii

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

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-RS14239	TBC1D25 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	TBC1D25	MGD	MGI:2444862
Bos taurus	TBC1D25	VGNC	VGNC:35639
Felis catus	TBC1D25	VGNC	VGNC:68610
Canis familiaris	TBC1D25	VGNC	VGNC:47144
Macaca mulatta	TBC1D25	VGNC	VGNC:78265
Rattus norvegicus	TBC1D25	RGD	RGD:1559711

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