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Aliases for SNX5 Gene

Aliases for SNX5 Gene

  • Sorting Nexin 5 2 3

External Ids for SNX5 Gene

Previous GeneCards Identifiers for SNX5 Gene

  • GC20M017910
  • GC20M017917

Summaries for SNX5 Gene

Entrez Gene Summary for SNX5 Gene

  • 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]

GeneCards Summary for SNX5 Gene

SNX5 (Sorting Nexin 5) is a Protein Coding gene. Diseases associated with SNX5 include fanconi anemia, complementation group a. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. GO annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX32.

UniProtKB/Swiss-Prot for SNX5 Gene

  • Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941).

Gene Wiki entry for SNX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX5 Gene

Genomics for SNX5 Gene

Regulatory Elements for SNX5 Gene

Genomic Location for SNX5 Gene

Start:
17,941,596 bp from pter
End:
17,968,991 bp from pter
Size:
27,396 bases
Orientation:
Minus strand

Genomic View for SNX5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX5 Gene

Proteins for SNX5 Gene

  • Protein details for SNX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5X3-SNX5_HUMAN
    Recommended name:
    Sorting nexin-5
    Protein Accession:
    Q9Y5X3
    Secondary Accessions:
    • B7ZKN3
    • D3DW26
    • Q52LC4
    • Q7KZN0
    • Q9BWP0

    Protein attributes for SNX5 Gene

    Size:
    404 amino acids
    Molecular mass:
    46816 Da
    Quaternary structure:
    • Forms heterodimers with BAR domain-containing sorting nexins SNX1 and SNX2; does not homodimerize (PubMed:23085988). The heterodimers are proposed to self-assemble into helical arrays on the membrane to stabilize and expand local membrane curvature underlying endosomal tubule formation. Thought to be a component of the originally described retromer complex (also called SNX-BAR retromer) which is a pentamer containing the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting subcomplex (VPS), and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity (Probable). Interacts with SNX1, SNX2, VPS26A, VPS29, VPS35, DCTN1, DOCK1, MIB1, PIP5K1C isoform 3. Interacts with HGS; increased by PIP5K1C isoform 3 kinase activity and by PtdIns(3P) and/or PtdIns(3,4)P2 (PubMed:16857196, PubMed:16968745, PubMed:19619496, PubMed:23085988, PubMed:18596235, PubMed:23602387, PubMed:24610942).

    Three dimensional structures from OCA and Proteopedia for SNX5 Gene

    Alternative splice isoforms for SNX5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX5 Gene

Proteomics data for SNX5 Gene at MOPED

Post-translational modifications for SNX5 Gene

  • Ubiquitination at Lys180 and Lys188
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNX5 Gene

Domains for SNX5 Gene

Gene Families for SNX5 Gene

HGNC:
  • SNX :Sorting nexins

Protein Domains for SNX5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SNX5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5X3

UniProtKB/Swiss-Prot:

SNX5_HUMAN :
  • Q9Y5X3
Domain:
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate.
  • The BAR domain is able to sense membrane curvature upon dimerization. Membrane remodeling seems to implicate insertion of an amphipatric helix (AH) in the membrane (Probable).
  • Contains 1 BAR domain.
  • Contains 1 PX (phox homology) domain.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX5: view

Function for SNX5 Gene

Molecular function for SNX5 Gene

UniProtKB/Swiss-Prot Function: Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941).

Gene Ontology (GO) - Molecular Function for SNX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19619496
GO:0034452 dynactin binding IDA 19619496
GO:0035091 phosphatidylinositol binding ISS --
genes like me logo Genes that share ontologies with SNX5: view
genes like me logo Genes that share phenotypes with SNX5: view

miRNA for SNX5 Gene

miRTarBase miRNAs that target SNX5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SNX5 Gene

Localization for SNX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX5 Gene

Endosome. Early endosome. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cell projection, phagocytic cup. Cell projection, ruffle. Note=Recruited to the plasma membrane after EGF stimulation, which leads to increased levels of phosphatidylinositol 3,4-bisphosphate (PdtIns(3,4)P2) (PubMed:15561769). Detected on macropinosomes (PubMed:16968745, PubMed:21048941). Targeted to membrane ruffles in response to EGFR stimulation. {ECO:0000269 PubMed:15561769, ECO:0000269 PubMed:16968745, ECO:0000269 PubMed:21048941}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNX5 Gene COMPARTMENTS Subcellular localization image for SNX5 gene
Compartment Confidence
endosome 5
plasma membrane 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for SNX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0001891 phagocytic cup IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0030904 retromer complex IDA 19619496
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IDA 15561769
genes like me logo Genes that share ontologies with SNX5: view

Pathways for SNX5 Gene

genes like me logo Genes that share pathways with SNX5: view

Gene Ontology (GO) - Biological Process for SNX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006907 pinocytosis IDA 18854019
GO:0016050 vesicle organization IBA --
GO:0042147 retrograde transport, endosome to Golgi IMP 17148574
genes like me logo Genes that share ontologies with SNX5: view

Transcripts for SNX5 Gene

Unigene Clusters for SNX5 Gene

Sorting nexin 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNX5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1:
SP2: - - - -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:

Relevant External Links for SNX5 Gene

GeneLoc Exon Structure for
SNX5
ECgene alternative splicing isoforms for
SNX5

Expression for SNX5 Gene

mRNA expression in normal human tissues for SNX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNX5 Gene

SOURCE GeneReport for Unigene cluster for SNX5 Gene Hs.316890

genes like me logo Genes that share expressions with SNX5: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNX5 Gene

Orthologs for SNX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX5 35
  • 99.83 (n)
  • 99.75 (a)
SNX5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 87 (a)
OneToMany
SNX5 35
  • 90.26 (n)
  • 98.02 (a)
SNX5 36
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SNX5 35
  • 92.07 (n)
  • 97.44 (a)
SNX5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snx5 35
  • 91.34 (n)
  • 98.27 (a)
Snx5 16
Snx5 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX5 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNX5 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX5 35
  • 80.31 (n)
  • 85.91 (a)
SNX5 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNX5 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68551 35
tropical clawed frog
(Silurana tropicalis)
Amphibia snx5 35
  • 74.7 (n)
  • 82.49 (a)
Str.16168 35
zebrafish
(Danio rerio)
Actinopterygii Dr.6495 35
snx5 35
  • 70.05 (n)
  • 73.86 (a)
snx5 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Snx6 36
  • 43 (a)
OneToMany
CG8282 37
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea snx-6 36
  • 40 (a)
OneToMany
Y59A8B.22 37
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5377 36
  • 43 (a)
OneToMany
Species with no ortholog for SNX5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNX5 Gene

ENSEMBL:
Gene Tree for SNX5 (if available)
TreeFam:
Gene Tree for SNX5 (if available)

Paralogs for SNX5 Gene

Paralogs for SNX5 Gene

Selected SIMAP similar genes for SNX5 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SNX5 Gene

genes like me logo Genes that share paralogs with SNX5: view

Variants for SNX5 Gene

Sequence variations from dbSNP and Humsavar for SNX5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs8696 -- 17,941,632(+) CTTTA(A/T)AAAAA utr-variant-3-prime
rs14885 -- 17,941,695(+) AGGGA(G/T)GGGGC utr-variant-3-prime
rs768655 -- 17,958,733(+) ACTTC(A/C)TTTGA intron-variant
rs910900 -- 17,952,867(+) AGATA(A/C)TAAGG intron-variant
rs910901 -- 17,953,042(+) AGCCT(A/G)AGTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNX5 Gene

Variant ID Type Subtype PubMed ID
dgv4558n71 CNV Gain 21882294
nsv833932 CNV Gain 17160897
nsv912807 CNV Loss 21882294
nsv458944 CNV Gain 19166990
nsv470543 CNV Gain 18288195
nsv912808 CNV Loss 21882294

Relevant External Links for SNX5 Gene

HapMap Linkage Disequilibrium report
SNX5
Human Gene Mutation Database (HGMD)
SNX5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX5 Gene

Disorders for SNX5 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SNX5 Gene including...

Search for SNX5 Gene in MalaCards »

Relevant External Links for SNX5

Genetic Association Database (GAD)
SNX5
Human Genome Epidemiology (HuGE) Navigator
SNX5
genes like me logo Genes that share disorders with SNX5: view

No data available for UniProtKB/Swiss-Prot for SNX5 Gene

Publications for SNX5 Gene

  1. SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. (PMID: 10600472) Otsuki T. … Liu J.M. (Biochem. Biophys. Res. Commun. 1999) 2 3 23
  2. A large family of endosome-localized proteins related to sorting nexin 1. (PMID: 11485546) Teasdale R.D. … Gleeson P.A. (Biochem. J. 2001) 3 4 23
  3. Sorting nexin 5 is localized to a subdomain of the early endosomes and is recruited to the plasma membrane following EGF stimulation. (PMID: 15561769) Merino-Trigo A. … Gleeson P.A. (J. Cell Sci. 2004) 3 4 23
  4. The DHR1 domain of DOCK180 binds to SNX5 and regulates cation-independent mannose 6-phosphate receptor transport. (PMID: 18596235) Hara S. … Matsuda M. (Mol. Biol. Cell 2008) 3 4 23
  5. A role for SNX5 in the regulation of macropinocytosis. (PMID: 18854019) Lim J.P. … Gleeson P.A. (BMC Cell Biol. 2008) 3 4 23

Products for SNX5 Gene

Sources for SNX5 Gene

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