VPS35L - VPS35 endosomal protein sorting factor like Gene

中文名称：VPS35 内体蛋白分选因子

种属: Homo sapiens

同用名: EC97; RTSC3; C16orf62

基因 ID: 57020 | 基因类型: protein coding

关于 VPS35L

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:19,555,703-19,701,163 (from NCBI)

This gene has 23 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.6), brain (RPKM 13.2) and 25 other tissues.

功能概要

参与高尔基体的质膜转运和内吞循环。位于核内体。与 Ritscher-Schinzel 综合征有关。 [由基因组资源联盟提供，2022 年 4 月]

Involved in Golgi to plasma membrane transport and endocytic recycling. Located in endosome. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of Genome Resources, Apr 2022]

VPS35L 基因产物(5)

mRNA	Protein	Name
NM_001300743.3	NP_001287672.2	VPS35 endosomal protein-sorting factor-like isoform 2
NM_001365293.2	NP_001352222.1	VPS35 endosomal protein-sorting factor-like isoform 3
NM_001365294.2	NP_001352223.1	VPS35 endosomal protein-sorting factor-like isoform 4
NM_001365295.2	NP_001352224.1	VPS35 endosomal protein-sorting factor-like isoform 5
NM_020314.7	NP_064710.5	VPS35 endosomal protein-sorting factor-like 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	25355947	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi to plasma membrane transport	IMP IMP: 通过突变表型推断	25355947	GOA
involved in endocytic recycling	IMP IMP: 通过突变表型推断	28892079	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endosome	IDA IDA: 通过直接分析推断	28892079	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

蛋白主名

其他名称

VPS35 endosomal protein-sorting factor-like

UPF0505 protein C16orf62

VPS35L 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	VPS35L	Q7Z3J2	VPS29	Homo sapiens	Q9UBQ0	Anti Tag CoIP	37172566
种属内	VPS35L	Q7Z3J2	VPS26C	Homo sapiens	O14972	Anti Tag CoIP	37172566

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

Ritscher-Schinzel Syndrome 3

RTSC3

Ritscher-Schinzel Syndrome

3c Syndrome	Ccc Dysplasia
Craniocerebellocardiac Dysplasia	Cranio-Cerebello-Cardiac Dysplasia

Ritscher-Schinzel Syndrome 1

3c Syndrome	Craniocerebellocardiac Dysplasia
RTSC1	Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
Dandy-Walker Like Malformation With Atrioventricular Septal Defect	Cranio-Cerebello-Cardiac Dysplasia
Dandy-Walker-Like Malformation With Asd	Ritscher Schinzel Syndrome
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome	Ritscher-Schinzel Syndrome
3c

Ritscher-Schinzel Syndrome 2

RTSC2

Periventricular Nodular Heterotopia

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

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12	SCAR12
Spinocerebellar Ataxia With Mental Retardation And Epilepsy	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 12	Spinocerebellar Ataxia, Autosomal Recessive, 12
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

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-RS15686	VPS35L 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	VPS35L	RGD	RGD:1564485
Bos taurus	VPS35L	VGNC	VGNC:51092
Mus musculus	VPS35L	MGD	MGI:1918767
Macaca mulatta	VPS35L	VGNC	VGNC:79446
Canis familiaris	VPS35L	VGNC	VGNC:51093
Felis catus	VPS35L	VGNC	VGNC:66965

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