Human Gene SNX5 (ENST00000377768.7) from GENCODE V44
  Description: May be involved in several stages of intracellular trafficking. Plays a role in macropinocytosis. Plays a role in the internalization of EGFR after EGF stimulation. (from UniProt Q9Y5X3)
RefSeq Summary (NM_152227): 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].
Gencode Transcript: ENST00000377768.7
Gencode Gene: ENSG00000089006.17
Transcript (Including UTRs)
   Position: hg38 chr20:17,941,597-17,968,980 Size: 27,384 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr20:17,942,357-17,968,425 Size: 26,069 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:17,941,597-17,968,980)mRNA (may differ from genome)Protein (404 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SNX5_HUMAN
DESCRIPTION: RecName: Full=Sorting nexin-5;
FUNCTION: May be involved in several stages of intracellular trafficking. Plays a role in macropinocytosis. Plays a role in the internalization of EGFR after EGF stimulation.
SUBUNIT: Interacts with SNX1; this promotes location at the endosome membrane.
SUBCELLULAR LOCATION: 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). Detected on macropinosomes. Targeted to membrane ruffles in response to EGFR stimulation.
DOMAIN: The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (By similarity).
SIMILARITY: Belongs to the sorting nexin family.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 PX (phox homology) domain.
CAUTION: The selectivity for particular phosphatidylinositol lipids is under debate. According to one report (PubMed:19553671), the rat protein binds exclusively to phosphatidylinositol 4,5- bisphosphate, while the human protein has been reported (PubMed:15561769) to bind to phosphatidylinositol 3,4-bisphosphate and also to phosphatidylinositol 3-phosphate.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNX5
Diseases sorted by gene-association score: fanconi anemia, complementation group a (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.21 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1076.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -135.20313-0.432 Picture PostScript Text
3' UTR -188.00760-0.247 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001683 - Phox
IPR014637 - Snx5_Snx6
IPR015404 - Vps5_C

Pfam Domains:
PF00787 - PX domain
PF09325 - Vps5 C terminal like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SYS - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y5X3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0010314 phosphatidylinositol-5-phosphate binding
GO:0031748 D1 dopamine receptor binding
GO:0034452 dynactin binding
GO:0035091 phosphatidylinositol binding
GO:0045296 cadherin binding
GO:0046982 protein heterodimerization activity
GO:0070273 phosphatidylinositol-4-phosphate binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006897 endocytosis
GO:0006907 pinocytosis
GO:0007174 epidermal growth factor catabolic process
GO:0015031 protein transport
GO:0016050 vesicle organization
GO:0016241 regulation of macroautophagy
GO:0035815 positive regulation of renal sodium excretion
GO:0042147 retrograde transport, endosome to Golgi
GO:0045776 negative regulation of blood pressure

Cellular Component:
GO:0001726 ruffle
GO:0001891 phagocytic cup
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005903 brush border
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0030904 retromer complex
GO:0030905 retromer, tubulation complex
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0031313 extrinsic component of endosome membrane
GO:0031410 cytoplasmic vesicle
GO:0031901 early endosome membrane
GO:0042995 cell projection
GO:0070685 macropinocytic cup
GO:0097422 tubular endosome


-  Descriptions from all associated GenBank mRNAs
  BC062638 - Homo sapiens sorting nexin 5, mRNA (cDNA clone IMAGE:5497734), partial cds.
BC000100 - Homo sapiens cDNA clone IMAGE:3504579, containing frame-shift errors.
AK001793 - Homo sapiens cDNA FLJ10931 fis, clone OVARC1000564.
AK129505 - Homo sapiens cDNA FLJ25994 fis, clone DMC05790, highly similar to Sorting nexin 5.
AK223308 - Homo sapiens mRNA for sorting nexin 5 variant, clone: SYN09416.
AF121855 - Homo sapiens sorting nexin 5 (SNX5) mRNA, complete cds.
AK054634 - Homo sapiens cDNA FLJ30072 fis, clone ASTRO2000417, moderately similar to Homo sapiens sorting nexin 5 (SNX5) mRNA.
AK308017 - Homo sapiens cDNA, FLJ97965.
BC093623 - Homo sapiens sorting nexin 5, mRNA (cDNA clone MGC:120658 IMAGE:7939468), complete cds.
BC093980 - Homo sapiens sorting nexin 5, mRNA (cDNA clone MGC:121015 IMAGE:7939825), complete cds.
BC143274 - Homo sapiens sorting nexin 5, mRNA (cDNA clone MGC:176793 IMAGE:9051776), complete cds.
AB464237 - Synthetic construct DNA, clone: pF1KB8156, Homo sapiens SNX5 gene for sorting nexin 5, without stop codon, in Flexi system.
AK296947 - Homo sapiens cDNA FLJ55170 complete cds, highly similar to Sorting nexin-5.
AK026227 - Homo sapiens cDNA: FLJ22574 fis, clone HSI02447, highly similar to AF121855 Homo sapiens sorting nexin 5 (SNX5) mRNA.
AL832967 - Homo sapiens mRNA; cDNA DKFZp666B082 (from clone DKFZp666B082).
JD314401 - Sequence 295425 from Patent EP1572962.
JD049298 - Sequence 30322 from Patent EP1572962.
JD285355 - Sequence 266379 from Patent EP1572962.
JD295809 - Sequence 276833 from Patent EP1572962.
JD268482 - Sequence 249506 from Patent EP1572962.
JD436853 - Sequence 417877 from Patent EP1572962.
JD224880 - Sequence 205904 from Patent EP1572962.
JD020610 - Sequence 1634 from Patent EP1572962.
JD030688 - Sequence 11712 from Patent EP1572962.
JD024617 - Sequence 5641 from Patent EP1572962.
JD031529 - Sequence 12553 from Patent EP1572962.
AK123903 - Homo sapiens cDNA FLJ41909 fis, clone PEBLM2007774.
BC002724 - Homo sapiens sorting nexin 5, mRNA (cDNA clone IMAGE:3629947), with apparent retained intron.
BC073171 - Homo sapiens cDNA clone IMAGE:6189124, partial cds.
BC064555 - Homo sapiens cDNA clone IMAGE:5550549, partial cds.
KJ902453 - Synthetic construct Homo sapiens clone ccsbBroadEn_11847 SNX5 gene, encodes complete protein.
BT007191 - Homo sapiens sorting nexin 5 mRNA, complete cds.
KU178601 - Homo sapiens sorting nexin 5 isoform 1 (SNX5) mRNA, partial cds, alternatively spliced.
KU178602 - Homo sapiens sorting nexin 5 isoform 2 (SNX5) mRNA, complete cds, alternatively spliced.
JD254210 - Sequence 235234 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5X3 (Reactome details) participates in the following event(s):

R-HSA-421836 trans-Golgi Network Derived Vesicle Uncoating
R-HSA-421833 Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture
R-HSA-421835 trans-Golgi Network Vesicle Scission
R-HSA-421831 trans-Golgi Network Coat Assembly
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZKN3, BC000100, D3DW26, ENST00000377768.1, ENST00000377768.2, ENST00000377768.3, ENST00000377768.4, ENST00000377768.5, ENST00000377768.6, Q52LC4, Q9BWP0, Q9Y5X3, SNX5_HUMAN, uc002wqd.1, uc002wqd.2, uc002wqd.3, uc002wqd.4, uc002wqd.5
UCSC ID: ENST00000377768.7
RefSeq Accession: NM_152227
Protein: Q9Y5X3 (aka SNX5_HUMAN)
CCDS: CCDS13130.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.