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Aliases for SNX17 Gene

Aliases for SNX17 Gene

  • Sorting Nexin 17 2 3 5
  • KIAA0064 4

External Ids for SNX17 Gene

Previous GeneCards Identifiers for SNX17 Gene

  • GC02P027514
  • GC02P027685
  • GC02P027567
  • GC02P027505
  • GC02P027446
  • GC02P027593
  • GC02P027335

Summaries for SNX17 Gene

Entrez Gene Summary for SNX17 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 does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]

GeneCards Summary for SNX17 Gene

SNX17 (Sorting Nexin 17) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include receptor binding and phosphatidylinositol binding. An important paralog of this gene is SNX31.

UniProtKB/Swiss-Prot for SNX17 Gene

  • Critical regulator of endosomal recycling of numerous receptors, channels, and other transmembrane proteins. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Plays a role in the sorting of endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels of APP and LRP1. Recycles internalized integrins ITGB1, ITGB5 and their associated alpha subunits, preventing them from lysosomal degradation. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).

Gene Wiki entry for SNX17 Gene

Additional gene information for SNX17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX17 Gene

Genomics for SNX17 Gene

GeneHancer (GH) Regulatory Elements for SNX17 Gene

Promoters and enhancers for SNX17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I027368 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 587.1 +0.3 261 4.5 MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 SNX17 EIF2B4 KRTCAP3 GC02P027377 PIR37988
GH02I027069 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 47.2 -294.0 -294002 14.9 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 EMILIN1 OST4 CAD GTF3C2 SNX17 NRBP1 LOC105374363 GPN1 KHK TMEM214
GH02I027407 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 52.8 +38.7 38686 2.7 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 PPM1G SNX17 SUPT7L ZNF512 GTF3C2 NRBP1 IFT172 TMEM214 CAD LOC105374363
GH02I027427 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 50 +59.3 59312 4.8 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 GC02M027429 NRBP1 SNX17 ZNF513 GCKR FNDC4 IFT172 RNU6-986P CCDC121 GPN1
GH02I027662 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 43.1 +293.2 293150 2.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SUPT7L SLC4A1AP IFT172 GTF3C2 CAD ZNF512 GPN1 NRBP1 EIF2B4 SNX17
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNX17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNX17 gene promoter:

Genomic Locations for SNX17 Gene

Genomic Locations for SNX17 Gene
chr2:27,370,496-27,377,533
(GRCh38/hg38)
Size:
7,038 bases
Orientation:
Plus strand
chr2:27,593,389-27,599,995
(GRCh37/hg19)

Genomic View for SNX17 Gene

Genes around SNX17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX17 Gene

Proteins for SNX17 Gene

  • Protein details for SNX17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15036-SNX17_HUMAN
    Recommended name:
    Sorting nexin-17
    Protein Accession:
    Q15036
    Secondary Accessions:
    • B4DQM7
    • Q53HN7
    • Q6IAS3

    Protein attributes for SNX17 Gene

    Size:
    470 amino acids
    Molecular mass:
    52901 Da
    Quaternary structure:
    • Monomer. Interacts with APP (via cytoplasmic YXNPXY motif). Interacts with KIF1B (By similarity). Interacts with the C-termini of P-selectin, PTC, LDLR, VLDLR, LRP1 and LRP8. Interacts with KRIT1 (via N-terminus). Interacts with HRAS. Interacts with ITGB1 and ITGB5 (via NPxY motif).
    SequenceCaution:
    • Sequence=BAA06542.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNX17 Gene

    Alternative splice isoforms for SNX17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX17 Gene

Post-translational modifications for SNX17 Gene

  • Ubiquitination at isoforms=263 and isoforms=2241

No data available for DME Specific Peptides for SNX17 Gene

Domains & Families for SNX17 Gene

Gene Families for SNX17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SNX17 Gene

Graphical View of Domain Structure for InterPro Entry

Q15036

UniProtKB/Swiss-Prot:

SNX17_HUMAN :
  • The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Required for association with endosomes.
  • Belongs to the sorting nexin family.
Domain:
  • The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Required for association with endosomes.
  • The PTB-like F3 module within the FERM-like domain mediates cargo recognition via their NPxY sequences, while the F1 module (Ras-associating) is responsible for interaction with membrane-bound HRAS.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX17: view

Function for SNX17 Gene

Molecular function for SNX17 Gene

UniProtKB/Swiss-Prot Function:
Critical regulator of endosomal recycling of numerous receptors, channels, and other transmembrane proteins. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Plays a role in the sorting of endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels of APP and LRP1. Recycles internalized integrins ITGB1, ITGB5 and their associated alpha subunits, preventing them from lysosomal degradation. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).

Phenotypes From GWAS Catalog for SNX17 Gene

Gene Ontology (GO) - Molecular Function for SNX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding NAS 12169628
GO:0005515 protein binding IPI 16712798
GO:0008022 protein C-terminus binding IPI 11237770
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IDA 16712798
genes like me logo Genes that share ontologies with SNX17: view
genes like me logo Genes that share phenotypes with SNX17: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNX17 Gene

Localization for SNX17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX17 Gene

Cytoplasm. Early endosome. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNX17 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endosome 5
nucleus 2
lysosome 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA 23382219
GO:0005769 early endosome IDA,IEA 12169628
GO:0005794 Golgi apparatus IDA 10942595
GO:0005829 cytosol IDA 16712798
genes like me logo Genes that share ontologies with SNX17: view

Pathways & Interactions for SNX17 Gene

SuperPathways for SNX17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003279 cardiac septum development IEA --
GO:0006707 cholesterol catabolic process IC 12169628
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport NAS,IBA 12169628
GO:0006898 receptor-mediated endocytosis IEA --
genes like me logo Genes that share ontologies with SNX17: view

No data available for Pathways by source and SIGNOR curated interactions for SNX17 Gene

Drugs & Compounds for SNX17 Gene

No Compound Related Data Available

Transcripts for SNX17 Gene

Unigene Clusters for SNX17 Gene

Sorting nexin 17:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNX17 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8:
SP9: - - - - - - - - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - -
SP12: - - - - - -
SP13: - - - - - - -
SP14: - - - - -
SP15: - - -
SP16:
SP17: - -

ExUns: 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SNX17 Gene

GeneLoc Exon Structure for
SNX17
ECgene alternative splicing isoforms for
SNX17

Expression for SNX17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNX17 Gene

This gene is overexpressed in Lymph node (13.1) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNX17 Gene



Protein tissue co-expression partners for SNX17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNX17 Gene:

SNX17

SOURCE GeneReport for Unigene cluster for SNX17 Gene:

Hs.278569

Evidence on tissue expression from TISSUES for SNX17 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Blood(4.5)
  • Bone marrow(4.3)
  • Muscle(4.3)
  • Skin(4)
  • Lung(3.8)
  • Intestine(3.5)
  • Kidney(3.4)
  • Pancreas(3.2)
  • Eye(2.7)
  • Heart(2.5)
  • Spleen(2.5)
genes like me logo Genes that share expression patterns with SNX17: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX17 Gene

Orthologs for SNX17 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNX17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX17 33 34
  • 99.5 (n)
oppossum
(Monodelphis domestica)
Mammalia SNX17 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNX17 33 34
  • 94.82 (n)
cow
(Bos Taurus)
Mammalia SNX17 33 34
  • 94.26 (n)
mouse
(Mus musculus)
Mammalia Snx17 33 16 34
  • 91.84 (n)
rat
(Rattus norvegicus)
Mammalia Snx17 33
  • 91.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNX17 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX17 33 34
  • 76.21 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia snx17 33
  • 72.71 (n)
Str.7028 33
African clawed frog
(Xenopus laevis)
Amphibia snx17-prov 33
zebrafish
(Danio rerio)
Actinopterygii snx17 33 34
  • 70.15 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12959 33
fruit fly
(Drosophila melanogaster)
Insecta CG5734 35 33 34
  • 51.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011491 33
  • 50.96 (n)
worm
(Caenorhabditis elegans)
Secernentea snx-17 33 34
  • 43.39 (n)
F17H10.3 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for SNX17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 SNX17 Gene

ENSEMBL:
Gene Tree for SNX17 (if available)
TreeFam:
Gene Tree for SNX17 (if available)

Paralogs for SNX17 Gene

Paralogs for SNX17 Gene

(3) SIMAP similar genes for SNX17 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SNX17: view

Variants for SNX17 Gene

Sequence variations from dbSNP and Humsavar for SNX17 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000820287 uncertain-significance, Leukoencephalopathy with vanishing white matter 27,369,467(+) T/C upstream_transcript_variant
rs112828880 uncertain-significance, Retinitis Pigmentosa, Dominant 27,377,911(+) G/A downstream_transcript_variant
rs13472 likely-benign, Retinitis Pigmentosa, Dominant 27,377,372(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs371030335 uncertain-significance, Retinitis Pigmentosa, Dominant 27,377,603(+) C/T downstream_transcript_variant
rs559997020 uncertain-significance, Leukoencephalopathy with vanishing white matter 27,369,882(+) C/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SNX17 Gene

Variant ID Type Subtype PubMed ID
esv3575209 CNV gain 25503493
nsv581244 CNV loss 21841781
nsv833614 CNV gain 17160897

Variation tolerance for SNX17 Gene

Residual Variation Intolerance Score: 9.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX17 Gene

Disorders for SNX17 Gene

Additional Disease Information for SNX17

No disorders were found for SNX17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SNX17 Gene

Publications for SNX17 Gene

  1. Polarized traffic of LRP1 involves AP1B and SNX17 operating on Y-dependent sorting motifs in different pathways. (PMID: 19005208) Donoso M … Marzolo MP (Molecular biology of the cell 2009) 3 4 22 58
  2. Functions of sorting nexin 17 domains and recognition motif for P-selectin trafficking. (PMID: 15769472) Knauth P … Bohnensack R (Journal of molecular biology 2005) 2 3 4 58
  3. Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin-17. (PMID: 14739284) Burden JJ … Soutar AK (The Journal of biological chemistry 2004) 3 4 22 58
  4. The PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor. (PMID: 12169628) Stockinger W … Nimpf J (The EMBO journal 2002) 2 3 22 58
  5. SNX17 protects integrins from degradation by sorting between lysosomal and recycling pathways. (PMID: 22492727) Steinberg F … Cullen PJ (The Journal of cell biology 2012) 3 4 58

Products for SNX17 Gene

  • Addgene plasmids for SNX17

Sources for SNX17 Gene

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