SNX18 sorting nexin 18 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We propose a model where upon autophagy induction, SNX18 recruits Dynamin-2 to induce budding of ATG9A and ATG16L1 containing membranes from recycling endosomes that traffic to sites of autophagosome formation.
Title: SNX18 regulates ATG9A trafficking from recycling endosomes by recruiting Dynamin-2.
SNX18 promotes autophagosome formation by virtue of its ability to remodel membranes and provide membrane to forming autophagosomes.
Title: Membrane remodeling by the PX-BAR protein SNX18 promotes autophagosome formation.
The sorting nexin 9 (SNX9) subfamily members - SNX9, SNX18 and SNX33 - are required for progression and completion of mitosis.
Title: SNX9, SNX18 and SNX33 are required for progression through and completion of mitosis.
FIP5-SNX18 complex plays a pivotal role in the polarized transport of apical proteins during apical lumen initiation in epithelial cells.
Title: Interaction between FIP5 and SNX18 regulates epithelial lumen formation.
functions in multiple pathways of endocytosis at the plasma membrane
Title: SNX18 shares a redundant role with SNX9 and modulates endocytic trafficking at the plasma membrane.
The results indicate that SNX9-family members make up discrete membrane-scission units together with dynamin, and suggest that SNX18 mediates budding of carriers for AP-1-positive endosomal trafficking.
Title: SNX18 is an SNX9 paralog that acts as a membrane tubulator in AP-1-positive endosomal trafficking.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-64864 (e-PCR)
- UniSTS:73577

RH65215 (e-PCR)
- UniSTS:28150

Clone Names

FLJ11997, FLJ32560, FLJ61062, MGC150827, MGC150829

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cleavage furrow formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cleavage furrow formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in recycling endosome membrane	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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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)

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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)

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
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
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

54517759..54648005

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047416679.1 → XP_047272635.1 sorting nexin-18 isoform X1