SNX33 sorting nexin 33 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNX33provided by HGNC
Official Full Name: sorting nexin 33provided by HGNC
Primary source: HGNC:HGNC:28468
See related: Ensembl:ENSG00000173548 MIM:619107; AllianceGenome:HGNC:28468
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: SNX30; SH3PX3; SH3PXD3C
Summary: The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in esophagus (RPKM 14.6), ovary (RPKM 14.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (75647912..75662301)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (73518620..73533009)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75940253..75954642)

Chromosome 15 - NC_000015.10 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?

[Donepezil Reduces Amyloid Precursor Protein Endocytosis by Resulting from Increase in the Expression of Sorting Nexin Protein 33].
Title: [Donepezil Reduces Amyloid Precursor Protein Endocytosis by Resulting from Increase in the Expression of Sorting Nexin Protein 33].
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.
study identifies critical amino acids within the BAR domains of SNX9 and SNX33 as determinants for the specificity of BAR domain-mediated interactions and suggests that SNX9 and SNX33 have distinct molecular functions.
Title: Specific amino acids in the BAR domain allow homodimerization and prevent heterodimerization of sorting nexin 33.
Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins SNX33 and nephrocystin
Title: Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins.
SNX33 plays a role in maintaining cell shape and cell cycle progression through its interaction with WASp
Title: Sorting nexin 33 induces mammalian cell micronucleated phenotype and actin polymerization by interacting with Wiskott-Aldrich syndrome protein.
SNX33 interferes with cellular PrP formation by modulation of PrP shedding
Title: The novel sorting nexin SNX33 interferes with cellular PrP formation by modulation of PrP shedding.
identifies SNX33 as a new endocytic protein, which modulates amyloid precursor protein endocytosis and APP alpha-secretase cleavage, and demonstrates that the rate of APP endocytosis is a major control factor for APP alpha-secretase cleavage
Title: A novel sorting nexin modulates endocytic trafficking and alpha-secretase cleavage of the amyloid precursor protein.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC34391 (e-PCR)
- UniSTS:63027

RH77791 (e-PCR)
- UniSTS:77655

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
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	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 endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in macropinocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
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 cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: sorting nexin-33

Names: SH3 and PX domain containing 3; SH3 and PX domain-containing protein 3

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_001318146.1 → NP_001305075.1 sorting nexin-33 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK091291, BC018775

UniProtKB/Swiss-Prot

Q8WV41

Conserved Domains (3) summary

cd11896
Location:4 → 58

SH3_SNX33; Src Homology 3 domain of Sorting Nexin 33

cl02563
Location:230 → 354

PX_domain; The Phox Homology domain, a phosphoinositide binding module

cl12013
Location:365 → 497

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_153271.2 → NP_695003.1 sorting nexin-33 isoform 1

See identical proteins and their annotated locations for NP_695003.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC105020

Consensus CDS

CCDS10283.1

UniProtKB/Swiss-Prot

B1NM17, Q8WV41

Related

ENSP00000311427.6, ENST00000308527.6

Conserved Domains (3) summary

cd07669
Location:365 → 571

BAR_SNX33; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 33

cd11896
Location:4 → 58

SH3_SNX33; Src Homology 3 domain of Sorting Nexin 33

cl02563
Location:230 → 354

PX_domain; The Phox Homology domain, a phosphoinositide binding module