SNX7 sorting nexin 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNX7provided by HGNC
Official Full Name: sorting nexin 7provided by HGNC
Primary source: HGNC:HGNC:14971
See related: Ensembl:ENSG00000162627 MIM:614904; AllianceGenome:HGNC:14971
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
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, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]
Expression: Ubiquitous expression in colon (RPKM 10.6), small intestine (RPKM 8.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p21.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (98661319..98760500)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (98509451..98608619)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (99127277..99226056)

Chromosome 1 - NC_000001.11 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?

Overexpression of SNX7 in HEK293T cells reduces the levels of secreted Abeta and beta-cleaved N-terminal APP fragments (sAPPbeta). Moreover, SNX7 overexpression caused a significant reduction of the steady-state levels of APP as well as of the cell surface APP levels.
Title: Overexpression of SNX7 reduces Aβ production by enhancing lysosomal degradation of APP.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of dental caries in the permanent dentition. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75195 (e-PCR)
- UniSTS:52227

RH119168 (e-PCR)
- UniSTS:139059

RH102798 (e-PCR)
- UniSTS:97132

SHGC-75196 (e-PCR)
- UniSTS:13172

AL034316 (e-PCR)
- UniSTS:94144

AL034039 (e-PCR)
- UniSTS:93934

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in piecemeal microautophagy of the nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in phagophore assembly site	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: sorting nexin-7

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_001364903.1 → NP_001351832.1 sorting nexin-7 isoform c

Status: REVIEWED

Source sequence(s)

AL627442

UniProtKB/Swiss-Prot

A8KAF3, D3DT50, Q53FQ3, Q5VT09, Q5VT10, Q86U82, Q8WVD4, Q96FW9, Q9UNH6, Q9Y3Z7

UniProtKB/TrEMBL

B4DP69

Conserved Domains (2) summary

cd07284
Location:32 → 147

PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7

cd07666
Location:131 → 373

BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
NM_015976.5 → NP_057060.2 sorting nexin-7 isoform a

See identical proteins and their annotated locations for NP_057060.2

Status: REVIEWED

Description

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

Source sequence(s)

AL627442

Consensus CDS

CCDS755.2

UniProtKB/Swiss-Prot

Q9UNH6

Related

ENSP00000304429.3, ENST00000306121.8

Conserved Domains (2) summary

cd07284
Location:96 → 211

PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7

cd07666
Location:195 → 437

BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
NM_152238.4 → NP_689424.2 sorting nexin-7 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AL627442

Consensus CDS

CCDS756.2

UniProtKB/TrEMBL

B4DP69, E9PNL2

Related

ENSP00000434731.1, ENST00000529992.5

Conserved Domains (2) summary

cd06860
Location:96 → 214

PX_SNX7_30_like; The phosphoinositide binding Phox Homology domain of Sorting Nexins 7 and 30

cl12013
Location:159 → 382

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

NR_033716.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an additional internal exon in the 5' region but lacks an internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL627442

Related

ENST00000528824.1

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

98661319..98760500

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001425.3 → XP_016856914.1 sorting nexin-7 isoform X2

UniProtKB/Swiss-Prot

A8KAF3, D3DT50, Q53FQ3, Q5VT09, Q5VT10, Q86U82, Q8WVD4, Q96FW9, Q9UNH6, Q9Y3Z7

UniProtKB/TrEMBL

B4DP69

Conserved Domains (2) summary

cd07284
Location:32 → 147

PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7

cd07666
Location:131 → 373

BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
XM_017001428.2 → XP_016856917.1 sorting nexin-7 isoform X3

UniProtKB/TrEMBL

B4DP69

Conserved Domains (2) summary

cd07284
Location:32 → 147

PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7

cl12013
Location:131 → 322

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006710677.3 → XP_006710740.2 sorting nexin-7 isoform X1
XM_011541564.4 → XP_011539866.1 sorting nexin-7 isoform X2

See identical proteins and their annotated locations for XP_011539866.1

UniProtKB/Swiss-Prot

A8KAF3, D3DT50, Q53FQ3, Q5VT09, Q5VT10, Q86U82, Q8WVD4, Q96FW9, Q9UNH6, Q9Y3Z7

UniProtKB/TrEMBL

B4DP69

Conserved Domains (2) summary

cd07284
Location:32 → 147

PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7

cd07666
Location:131 → 373

BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
XM_047422248.1 → XP_047278204.1 sorting nexin-7 isoform X2

UniProtKB/Swiss-Prot

A8KAF3, D3DT50, Q53FQ3, Q5VT09, Q5VT10, Q86U82, Q8WVD4, Q96FW9, Q9UNH6, Q9Y3Z7

UniProtKB/TrEMBL

B4DP69