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

    Gene ID: 76742, updated on 9-Dec-2024

    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 calcium-dependent protein binding activity; ionotropic glutamate receptor binding activity; and phosphatidylinositol-3-phosphate binding activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within endosomal transport. Located in endosome. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic endosome. Is expressed in several structures, including adipose tissue; eye; genitourinary system; gut; and nervous system. Orthologous to human SNX27 (sorting nexin 27). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 6.3), cerebellum adult (RPKM 5.7) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Snx27 in Genome Data Viewer
    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_000069.7Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S2-like Neighboring gene STARR-positive B cell enhancer mm9_chr3:94260392-94260693 Neighboring gene regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 Neighboring gene CUGBP, Elav-like family member 3 Neighboring gene STARR-seq mESC enhancer starr_08351 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:94386567-94386676 Neighboring gene translation machinery-associated protein 7 pseudogene Neighboring gene ribosomal protein L31, pseudogene 11

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • mKIAA0488

    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 phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    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 intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    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
     
    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 regulation of synapse maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse maturation ISO
    Inferred from Sequence Orthology
    more info
     
    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
     
    part_of WASH complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol 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 early endosome membrane IEA
    Inferred from Electronic Annotation
    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 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in immunological synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in immunological synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    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
     
    part_of retromer complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001082484.2NP_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:158263
      PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
      cd01777
      Location:272358
      SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
      cd00992
      Location:39131
      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:423524
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
    2. NM_029721.2NP_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:158263
      PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
      cd01777
      Location:272358
      SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
      cd00992
      Location:39131
      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:423524
      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

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      94404849..94490023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (3) summary
      cd13338
      Location:239340
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:87179
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
      cl02563
      Location:179
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
    2. XM_030252877.2XP_030108737.1  sorting nexin-27 isoform X2

      Conserved Domains (3) summary
      cd13338
      Location:239340
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:87179
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
      cl02563
      Location:179
      PX_domain; The Phox Homology domain, a phosphoinositide binding module
    3. XM_006502258.5XP_006502321.1  sorting nexin-27 isoform X1

      Conserved Domains (3) summary
      cd13338
      Location:239340
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:87179
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
      cl02563
      Location:179
      PX_domain; The Phox Homology domain, a phosphoinositide binding module