1. Gene
  2. SNX1 - sorting nexin 1 Gene

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

SNX1 Protein Structure

Sorting_nexin

Sorting_nexin: Sorting nexin, N-terminal domain (10 - 137)

PX

PX: PX domain (147 - 267)

Vps5

Vps5: Vps5 C terminal like (285 - 517)

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  • 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

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