SNX5 - sorting nexin 5 Gene

Homo sapiens

Gene ID: 27131 | Gene type: protein coding

About SNX5

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:17,941,600-17,968,794 (from NCBI)

This gene has 19 transcripts (splice variants), 227 orthologues and 15 paralogues. Ubiquitous expression in thyroid (RPKM 76.1), kidney (RPKM 52.7) and 24 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 protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

SNX5 Products(3)

mRNA	Protein	Name
NM_001282454.2	NP_001269383.1	sorting nexin-5 isoform b
NM_014426.4	NP_055241.1	sorting nexin-5 isoform a
NM_152227.3	NP_689413.1	sorting nexin-5 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables dynactin binding	IDA IDA: Inferred from direct assay	19619496	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	15561769	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19619496	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in pinocytosis	IDA IDA: Inferred from direct assay	18854019	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	25825816	GOA
involved in positive regulation of insulin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	25825816	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	17148574	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic side of early endosome membrane	IDA IDA: Inferred from direct assay	15561769	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	15561769	GOA
located in macropinocytic cup	IDA IDA: Inferred from direct assay	18854019	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	25825816	GOA
part of retromer complex	IDA IDA: Inferred from direct assay	19619496	GOA
located in tubular endosome	IDA IDA: Inferred from direct assay	19619496	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

SNX5 Protein Structure

Vps5

0
100
200
300
404 a.a.

Protein Preferred Names

Protein Names

sorting nexin-5

Related Diseases

Diseases

Alias

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

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

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-RS13544	SNX5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SNX5	VGNC	VGNC:98451
Rattus norvegicus	SNX5	RGD	RGD:1310190
Canis familiaris	SNX5	VGNC	VGNC:46642
Mus musculus	SNX5	MGD	MGI:1916428
Felis catus	SNX5	VGNC	VGNC:65558

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