Snx14 sorting nexin 14 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Snx14provided by MGI
Official Full Name: sorting nexin 14provided by MGI
Primary source: MGI:MGI:2155664
See related: Ensembl:ENSMUSG00000032422 AllianceGenome:MGI:2155664
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: YR-14; B830022K16; C330035N22Rik
Summary: Predicted to enable phosphatidylinositol-3,5-bisphosphate binding activity. Predicted to be involved in autophagosome maturation. Predicted to act upstream of or within protein transport. Predicted to be located in cytosol and lysosome. Predicted to be active in late endosome. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 20. Orthologous to human SNX14 (sorting nexin 14). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 4.9), CNS E18 (RPKM 4.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E3.1; 9 47.24 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (88258805..88320982, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (88376755..88438929, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Title: Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
SNX14 is a dual endogenous negative regulator in 5-HT6R-mediated signaling pathway.
Title: SNX14 is a bifunctional negative regulator for neuronal 5-HT6 receptor signaling.
These data reveal a role for monoallelic Snx14 expression in maintaining normal neuronal excitability and synaptic transmission.
Title: Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagosome maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome maturation	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sorting nexin-14

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_001359958.2 → NP_001346887.2 sorting nexin-14 isoform 2

Status: VALIDATED

Source sequence(s)

AC116713, CT025673

UniProtKB/Swiss-Prot

B0V2Q4, G3UWA3, Q8BHY8

UniProtKB/TrEMBL

G3UX33

Related

ENSMUSP00000133533.3, ENSMUST00000174806.9

Conserved Domains (4) summary

cd06877
Location:564 → 686

PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14

cd08722
Location:340 → 466

RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein

pfam02194
Location:130 → 299

PXA; PXA domain

pfam08628
Location:807 → 911

Nexin_C; Sorting nexin C terminal
NM_172926.4 → NP_766514.3 sorting nexin-14 isoform 1

Status: VALIDATED

Source sequence(s)

AC116713, CT025673

Consensus CDS

CCDS23387.2

UniProtKB/Swiss-Prot

B0V2Q4, G3UWA3, Q8BHY8

UniProtKB/TrEMBL

A0A6Q6RCM4

Related

ENSMUSP00000130116.3, ENSMUST00000165315.9

Conserved Domains (4) summary

cd06877
Location:555 → 677

PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14

cd08722
Location:340 → 466

RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein

pfam02194
Location:130 → 299

PXA; PXA domain

pfam08628
Location:798 → 902

Nexin_C; Sorting nexin C terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

88258805..88320982 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155012.1 → XP_036010905.1 sorting nexin-14 isoform X1

UniProtKB/TrEMBL

Q80XP2

Conserved Domains (3) summary

cd06877
Location:179 → 301

PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14

pfam08628
Location:422 → 526

Nexin_C; Sorting nexin C terminal

cl02565
Location:1 → 81

RGS; Regulator of G protein signaling (RGS) domain superfamily