SNX1 - sorting nexin 1 Gene

Homo sapiens

Also known as VPS5; HsT17379

Gene ID: 6642 | Gene type: protein coding

About SNX1

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:64,095,982-64,144,231 (from NCBI)

This gene has 14 transcripts (splice variants), 269 orthologues and 15 paralogues. Ubiquitous expression in thyroid (RPKM 29.5), fat (RPKM 17.2) and 25 other tissues.

Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

SNX1 Products(3)

mRNA	Protein	Name
NM_001242933.2	NP_001229862.1	sorting nexin-1 isoform d
NM_003099.5	NP_003090.2	sorting nexin-1 isoform a
NM_148955.4	NP_683758.1	sorting nexin-1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables epidermal growth factor receptor binding	IDA IDA: Inferred from direct assay	9819414	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	11102511	GOA
enables insulin receptor binding	IDA IDA: Inferred from direct assay	9819414	GOA
enables leptin receptor binding	IDA IDA: Inferred from direct assay	9819414	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	15498486	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9819414	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	11102511	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	11102511	GOA
enables transferrin receptor binding	IDA IDA: Inferred from direct assay	9819414	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in early endosome to Golgi transport	IMP IMP: Inferred from mutant phenotype	15498486	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	15498486	GOA
involved in lamellipodium morphogenesis	IDA IDA: Inferred from direct assay	20604901	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	20070609	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	18088323	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11279102	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	15498486	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	15673616	GOA
located in membrane	IDA IDA: Inferred from direct assay	9819414	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	9819414	GOA
part of retromer complex	IDA IDA: Inferred from direct assay	19619496	GOA
part of retromer, tubulation complex	IPI IPI: Inferred from physical interaction	11102511	GOA
located in vesicle	IDA IDA: Inferred from direct assay	25468996	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

SNX1 Protein Structure

Sorting_nexin

Vps5

0
100
200
300
400
522 a.a.

Protein Preferred Names

Protein Names

sorting nexin-1

sorting nexin 1A

Related Diseases

Diseases

Alias

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13522	SNX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SNX1	RGD	RGD:68935
Canis familiaris	SNX1	VGNC	VGNC:46619
Macaca mulatta	SNX1	VGNC	VGNC:77681
Felis catus	SNX1	VGNC	VGNC:65541
Mus musculus	SNX1	MGD	MGI:1928395
Bos taurus	SNX1	VGNC	VGNC:35090

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