VPS37A - VPS37A subunit of ESCRT-I Gene

中文名称：ESCRT-I 的 VPS37A 亚基

种属: Homo sapiens

同用名: HCRP1; PQBP2; SPG53

基因 ID: 137492 | 基因类型: protein coding

关于 VPS37A

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:17,246,958-17,333,455 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.8), placenta (RPKM 5.0) and 25 other tissues.

功能概要

该基因属于 VPS37 家族，编码 ESCRT-I (运输 I 所需的内体分选复合物) 蛋白复合物的一个组分，将泛素化跨膜蛋白分选到多泡体的内部囊泡中。该基因的表达在肝细胞癌中下调，并且该基因的突变与常染色体隐性遗传性痉挛性截瘫 53 相关。已在 5 号染色体上鉴定出一个相关的假基因。已发现该基因的选择性剪接转录物变体。[RefSeq 提供，2012 年 12 月]

This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

VPS37A 基因产物(9)

mRNA	Protein	Name
NM_001145152.2	NP_001138624.1	vacuolar protein sorting-associated protein 37A isoform 2
NM_001363167.1	NP_001350096.1	vacuolar protein sorting-associated protein 37A isoform 3
NM_001363168.1	NP_001350097.1	vacuolar protein sorting-associated protein 37A isoform 4
NM_001363169.1	NP_001350098.1	vacuolar protein sorting-associated protein 37A isoform 4
NM_001363170.1	NP_001350099.1	vacuolar protein sorting-associated protein 37A isoform 5
NM_001363171.1	NP_001350100.1	vacuolar protein sorting-associated protein 37A isoform 5
NM_001363172.2	NP_001350101.1	vacuolar protein sorting-associated protein 37A isoform 5
NM_001363173.2	NP_001350102.1	vacuolar protein sorting-associated protein 37A isoform 1
NM_152415.3	NP_689628.2	vacuolar protein sorting-associated protein 37A 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
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: 通过突变表型推断	21757351	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of ESCRT I complex	IDA IDA: 通过直接分析推断	18005716	GOA
part of ESCRT I complex	IPI IPI: 通过物理相互作用推断	18005716	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

VPS37A 蛋白结构

Mod_r

0
100
200
300
397 a.a.

蛋白主名

其他名称

vacuolar protein sorting-associated protein 37A

ESCRT-I complex subunit VPS37A

VPS37A 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	VPS37A	Q8NEZ2	NF2	Homo sapiens	P35240	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	NF2	Homo sapiens	P35240	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	NF2	Homo sapiens	P35240	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	NF2	Homo sapiens	P35240-4	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	NF2	Homo sapiens	P35240-4	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	NF2	Homo sapiens	P35240-4	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	DMWD	Homo sapiens	G5E9A7	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	DMWD	Homo sapiens	G5E9A7	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	DMWD	Homo sapiens	G5E9A7	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	GDAP1	Homo sapiens	Q8TB36	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	GDAP1	Homo sapiens	Q8TB36	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	GDAP1	Homo sapiens	Q8TB36	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	NUP58	Homo sapiens	Q9BVL2	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	NUP58	Homo sapiens	Q9BVL2	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	NUP58	Homo sapiens	Q9BVL2	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	TSG101	Homo sapiens	Q99816	Y2H Array	25416956
种属内	VPS37A	Q8NEZ2	TSG101	Homo sapiens	Q99816	Anti Tag CoIP	33961781
种属内	VPS37A	Q8NEZ2	TSG101	Homo sapiens	Q99816	Validated Y2H	25416956
种属内	VPS37A	Q8NEZ2	TSG101	Homo sapiens	Q99816	Validated Y2H	32296183
种属内	VPS37A	Q8NEZ2	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	HRAS	Homo sapiens	P01112	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	HRAS	Homo sapiens	P01112	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	HRAS	Homo sapiens	P01112	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	GSN	Homo sapiens	P06396	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	GSN	Homo sapiens	P06396	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	HTRA2	Homo sapiens	O43464	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	HTRA2	Homo sapiens	O43464	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	HTRA2	Homo sapiens	O43464	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	WFS1	Homo sapiens	O76024	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	GRN	Homo sapiens	P28799	Y2H Array	32814053
种属内	VPS37A	Q8NEZ2	GRN	Homo sapiens	P28799	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	GRN	Homo sapiens	P28799	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	PRPS1	Homo sapiens	P60891	Y2H Pooling	32814053
种属内	VPS37A	Q8NEZ2	PRPS1	Homo sapiens	P60891	Validated Y2H	32814053
种属内	VPS37A	Q8NEZ2	PRPS1	Homo sapiens	P60891	Y2H Array	32814053

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

Spastic Paraplegia 53, Autosomal Recessive

SPG53	Hereditary Spastic Paraplegia 53
Autosomal Recessive Spastic Paraplegia Type 53	Autosomal Recessive Spastic Paraplegia 53
Paraplegia, Spastic, Type 53, Autosomal Recessive

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraparesis

Spastic Paraplegia 80, Autosomal Dominant

SPG80	Hereditary Spastic Paraplegia 80
Spastic Paraplegia 80 Autosomal Dominant	Doid:0112341

Pectus Carinatum

Carinatum Deformity Of The Chest

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

Low Compliance Bladder

Overactive Bladder	Hyperactivity Of Bladder
Hypertonic Bladder	Hypertonicity Of Bladder
Low Bladder Compliance	Oab - [Overactive Bladder]

Spastic Paraplegia, Optic Atrophy, And Neuropathy

Spoan Syndrome	SPOAN
Spastic Paraplegia, Optic Atropy, And Neuropathy	Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Spastic Paraplegia 42, Autosomal Dominant

SPG42	Hereditary Spastic Paraplegia 42
Autosomal Dominant Spastic Paraplegia Type 42	Autosomal Dominant Spastic Paraplegia 42
Paraplegia, Spastic, Type 42, Autosomal Dominant

Hypertrichosis

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-RS15688	VPS37A 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	VPS37A	VGNC	VGNC:48287
Mus musculus	VPS37A	MGD	MGI:1261835
Rattus norvegicus	VPS37A	RGD	RGD:1560016
Bos taurus	VPS37A	VGNC	VGNC:36820
Felis catus	VPS37A	VGNC	VGNC:80117

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