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    SNX18 sorting nexin 18 [ Homo sapiens (human) ]

    Gene ID: 112574, updated on 10-Dec-2024

    Summary

    Official Symbol
    SNX18provided by HGNC
    Official Full Name
    sorting nexin 18provided by HGNC
    Primary source
    HGNC:HGNC:19245
    See related
    Ensembl:ENSG00000178996 MIM:621000; AllianceGenome:HGNC:19245
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNAG1; SH3PX2; SH3PXD3B
    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 does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 13.6), ovary (RPKM 10.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SNX18 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (54517759..54648005)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (55345475..55475784)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (53813589..53842416)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1033 Neighboring gene ribosomal protein L37 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:53735813-53736314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22550 Neighboring gene heat shock protein family B (small) member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:53813343-53813584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:53814497-53815441 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:53935341-53935915 Neighboring gene long intergenic non-protein coding RNA 2998 Neighboring gene uncharacterized LOC105378969 Neighboring gene NFE2L2 motif-containing MPRA enhancer 222 Neighboring gene chondroitin sulfate proteoglycan family member 4B, pseudogene Neighboring gene zinc finger protein 561-like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (13 hits/1270 screens)

    EBI GWAS Catalog

    Description
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Viral bimolecular fluorescence complementation assay demonstrates the association of HIV-1 Nef with SNX18 in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    General gene information

    Clone Names

    • FLJ11997, FLJ32560, FLJ61062, MGC150827, MGC150829

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cleavage furrow formation  
    involved_in cleavage furrow formation PubMed 
    involved_in endocytosis  
    involved_in endocytosis PubMed 
    involved_in endocytosis PubMed 
    involved_in endosomal transport  
    involved_in endosomal transport PubMed 
    involved_in mitotic cytokinesis PubMed 
    involved_in plasma membrane tubulation  
    involved_in positive regulation of GTPase activity PubMed 
    involved_in positive regulation of autophagosome assembly PubMed 
    involved_in protein transport PubMed 
    Component Evidence Code Pubs
    colocalizes_with clathrin-coated vesicle PubMed 
    located_in cytoplasmic side of plasma membrane PubMed 
    is_active_in cytoplasmic vesicle  
    located_in cytoplasmic vesicle PubMed 
    located_in extracellular exosome PubMed 
    located_in extracellular exosome PubMed 
    is_active_in plasma membrane  
    is_active_in recycling endosome membrane PubMed 

    General protein information

    Preferred Names
    sorting nexin-18
    Names
    SH3 and PX domain-containing protein 3B
    sorting nexin associated golgi protein 1
    sorting nexin-associated Golgi protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001102575.2 → NP_001096045.1  sorting nexin-18 isoform a

      See identical proteins and their annotated locations for NP_001096045.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (a).
      Source sequence(s)
      AC091888, AI335241, AI669182, AK022059, BC060791, BJ990551, CD722181
      Consensus CDS
      CCDS43317.1
      UniProtKB/Swiss-Prot
      Q96RF0
      Related
      ENSP00000370817.4, ENST00000381410.5
      Conserved Domains (3) summary
      cd07286
      Location:276 → 403
      PX_SNX18; The phosphoinositide binding Phox Homology domain of Sorting Nexin 18
      cd07670
      Location:415 → 621
      BAR_SNX18; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 18
      cd11897
      Location:4 → 58
      SH3_SNX18; Src Homology 3 domain of Sorting nexin 18
    2. NM_001145427.2 → NP_001138899.1  sorting nexin-18 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate donor splice site at the first coding exon compared to transcript variant 1. This results in a frame-shift, early translation termination, and an isoform (c) with a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC091888, AI335241, AK022059, AK304195, BC060791, BC117220, BJ990552, CN360136
      Consensus CDS
      CCDS54851.1
      UniProtKB/Swiss-Prot
      Q96RF0
      Related
      ENSP00000317332.4, ENST00000326277.5
      Conserved Domains (4) summary
      cd07286
      Location:276 → 403
      PX_SNX18; The phosphoinositide binding Phox Homology domain of Sorting Nexin 18
      cd11897
      Location:4 → 58
      SH3_SNX18; Src Homology 3 domain of Sorting nexin 18
      pfam12316
      Location:79 → 222
      Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal
      cl12013
      Location:415 → 541
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. NM_052870.4 → NP_443102.2  sorting nexin-18 isoform b

      See identical proteins and their annotated locations for NP_443102.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region compared to variant 1. The resulting protein (isoform b) has a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC091888, AF395536, BC060791, BC117220, CN479485
      Consensus CDS
      CCDS3962.1
      UniProtKB/Swiss-Prot
      B4E2B3, H7BXX3, Q05BB3, Q0VG02, Q96RF0
      Related
      ENSP00000342276.7, ENST00000343017.11
      Conserved Domains (3) summary
      cd07286
      Location:276 → 403
      PX_SNX18; The phosphoinositide binding Phox Homology domain of Sorting Nexin 18
      cd11897
      Location:4 → 58
      SH3_SNX18; Src Homology 3 domain of Sorting nexin 18
      cl12013
      Location:415 → 541
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      54517759..54648005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008997.2 → XP_016864486.1  sorting nexin-18 isoform X2

      Conserved Domains (3) summary
      cd07286
      Location:276 → 403
      PX_SNX18; The phosphoinositide binding Phox Homology domain of Sorting Nexin 18
      cd11897
      Location:4 → 58
      SH3_SNX18; Src Homology 3 domain of Sorting nexin 18
      cl12013
      Location:415 → 541
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_047416679.1 → XP_047272635.1  sorting nexin-18 isoform X1

    RNA

    1. XR_007058577.1 RNA Sequence

    2. XR_001741987.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      55345475..55475784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351529.1 → XP_054207504.1  sorting nexin-18 isoform X1

    2. XM_054351530.1 → XP_054207505.1  sorting nexin-18 isoform X2

    RNA

    1. XR_008487078.1 RNA Sequence

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