Snx27 sorting nexin family member 27 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Snx27provided by MGI
Official Full Name: sorting nexin family member 27provided by MGI
Primary source: MGI:MGI:1923992
See related: Ensembl:ENSMUSG00000028136 AllianceGenome:MGI:1923992
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: ESTM45; ESTM47; 5730552M22Rik
Summary: Predicted to enable ionotropic glutamate receptor binding activity and phosphatidylinositol-3-phosphate binding activity. Acts upstream of or within endosomal transport. Located in endosome. Is expressed in several structures, including adipose tissue; eye; gut; nervous system; and reproductive system. Orthologous to human SNX27 (sorting nexin 27). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 6.3), cerebellum adult (RPKM 5.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 40.74 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (94404849..94490023, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (94497542..94582736, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation.
Title: Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation.
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Title: Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Characterization of the interaction between beta-catenin and sorting nexin 27: contribution of the type I PDZ-binding motif to Wnt signaling.
Title: Characterization of the interaction between β-catenin and sorting nexin 27: contribution of the type I PDZ-binding motif to Wnt signaling.
Downregulation of SNX27 expression does not exacerbate amyloidogenesis in the APP/PS1 Alzheimer's disease mouse model.
Title: Downregulation of SNX27 expression does not exacerbate amyloidogenesis in the APP/PS1 Alzheimer's disease mouse model.
This study broadens our understanding of SNX27 as an integrator of lipid-based signals with the control of transcription and metabolic pathways.
Title: SNX27 links DGKζ to the control of transcriptional and metabolic programs in T lymphocytes.
Results show a crucial role of SNX27 in modulating GPR17 levels by means of a post-translational mechanism and highlights the relationship between the trafficking of the receptor through the endomembrane system and oligodendrocyte differentiation; and provide novel evidence of impairment of GPR17 expression and oligodendrocyte maturation in a mouse model of Down syndrome that is characterized by SNX27 down-regulation.
Title: SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation.
we anticipate that future study will determine whether modulation of a SNX27/Notch/gamma-secretase pathway can also be of therapeutic interest to congenital hydrocephalus
Title: SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis.
We identify binding and trafficking interactions between two of these factors, SORLA and SNX27, and demonstrate that SNX27 can direct trafficking of SORLA and the Abeta precursor APP to the cell surface to limit the production of Abeta. Diversion APP to the cell surface through modulation of this molecular complex may represent a complimentary strategy for future development in AD treatment.
Title: SNX27 and SORLA Interact to Reduce Amyloidogenic Subcellular Distribution and Processing of Amyloid Precursor Protein.
A critical role for SNX27-retromer mediated transport of PTHR in normal bone development.
Title: Sorting nexin 27 couples PTHR trafficking to retromer for signal regulation in osteoblasts during bone growth.
a function of SNX27 in regulating beta-amyloid (Abeta) generation by modulating gamma-secretase activity.
Title: Sorting nexin 27 regulates Aβ production through modulating γ-secretase activity.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125229 (e-PCR)
- UniSTS:162051

R75405 (e-PCR), detects polymorphism
- UniSTS:143031

C79375 (e-PCR), detects polymorphism
- UniSTS:143033

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology 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 endocytic recycling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in endosome to plasma membrane protein transport	ISO Inferred from Sequence Orthology more info
involved_in establishment of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in neurotransmitter receptor transport to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of AMPA glutamate receptor clustering	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of WASH complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in immunological synapse	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynaptic early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic recycling endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic recycling endosome	IMP Inferred from Mutant Phenotype more info	PubMed
part_of retromer complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sorting nexin-27

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_001082484.2 → NP_001075953.1 sorting nexin-27 isoform 1

See identical proteins and their annotated locations for NP_001075953.1

Status: VALIDATED

Description

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

Source sequence(s)

AC127252, AK043074, AK147452, AV490246, BC053495

Consensus CDS

CCDS38537.1

UniProtKB/Swiss-Prot

Q3UHD6, Q7TQL6, Q80TZ1, Q9CYB5

Related

ENSMUSP00000102904.2, ENSMUST00000107283.8

Conserved Domains (4) summary

cd06886
Location:158 → 263

PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27

cd01777
Location:272 → 358

SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)

cd00992
Location:39 → 131

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd13338
Location:423 → 524

FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
NM_029721.2 → NP_083997.1 sorting nexin-27 isoform 2

See identical proteins and their annotated locations for NP_083997.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 3' terminal exon which results in a frameshift compared to variant 1. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC122808, AC127252, AK147452, AV490246

Consensus CDS

CCDS38538.1

UniProtKB/TrEMBL

A0A0G2JF85

Related

ENSMUSP00000029783.10, ENSMUST00000029783.16

Conserved Domains (4) summary

cd06886
Location:158 → 263

PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27

cd01777
Location:272 → 358

SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)

cd00992
Location:39 → 131

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd13338
Location:423 → 524

FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27

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_000069.7 Reference GRCm39 C57BL/6J

Range

94404849..94490023 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252876.2 → XP_030108736.1 sorting nexin-27 isoform X1

Conserved Domains (3) summary

cd13338
Location:239 → 340

FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27

cd01777
Location:87 → 179

FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)

cl02563
Location:1 → 79

PX_domain; The Phox Homology domain, a phosphoinositide binding module
XM_030252877.2 → XP_030108737.1 sorting nexin-27 isoform X2

Conserved Domains (3) summary

cd13338
Location:239 → 340

FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27

cd01777
Location:87 → 179

FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)

cl02563
Location:1 → 79

PX_domain; The Phox Homology domain, a phosphoinositide binding module
XM_006502258.5 → XP_006502321.1 sorting nexin-27 isoform X1

Conserved Domains (3) summary

cd13338
Location:239 → 340

FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27

cd01777
Location:87 → 179

FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)

cl02563
Location:1 → 79

PX_domain; The Phox Homology domain, a phosphoinositide binding module