VPS35L - VPS35 endosomal protein sorting factor like Gene

Also Known as EC97; RTSC3; C16orf62

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57020

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25355947	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi to plasma membrane transport	IMP IMP: Inferred from mutant phenotype	25355947	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	28892079	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endosome	IDA IDA: Inferred from direct assay	28892079	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
VPS35 endosomal protein-sorting factor-like	UPF0505 protein C16orf62

VPS35L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VPS35L	Q7Z3J2	VPS29	Homo sapiens	Q9UBQ0	Anti Tag CoIP	37172566
Intra	VPS35L	Q7Z3J2	VPS26C	Homo sapiens	O14972	Anti Tag CoIP	37172566

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15686	VPS35L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	VPS35L	NCBI