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    SNX27 sorting nexin 27 [ Homo sapiens (human) ]

    Gene ID: 81609, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SNX27provided by HGNC
    Official Full Name
    sorting nexin 27provided by HGNC
    Primary source
    HGNC:HGNC:20073
    See related
    Ensembl:ENSG00000143376 MIM:611541; AllianceGenome:HGNC:20073
    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
    MRT1; MY014
    Summary
    This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 9.5), kidney (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151612050..151699080)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150734456..150822464)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151584526..151671556)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151519404-151519922 Neighboring gene tuftelin 1 Neighboring gene microRNA 554 Neighboring gene Sharpr-MPRA regulatory region 12940 Neighboring gene ribosomal protein S10 pseudogene 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:151546941-151548140 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151566738-151567238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151567239-151567739 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8572 Neighboring gene uncharacterized LOC124904420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591098-151591598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591599-151592099 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678174-151678674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678675-151679175 Neighboring gene Sharpr-MPRA regulatory region 11691 Neighboring gene CUGBP Elav-like family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1325 Neighboring gene regulatory subunit of type II PKA R-subunit domain containing 1 Neighboring gene RNA, U6 small nuclear 662, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Sorting Nexin 27 Enables MTOC and Secretory Machinery Translocation to the Immune Synapse. González-Mancha N, et al. Front Immunol, 2021. PMID 35095913, Free PMC Article
    2. SNX27 suppresses SARS-CoV-2 infection by inhibiting viral lysosome/late endosome entry. Yang B, et al. Proc Natl Acad Sci U S A, 2022 Jan 25. PMID 35022217, Free PMC Article
    3. SARS-CoV-2 spike protein harnesses SNX27-mediated endocytic recycling pathway. Zhao L, et al. MedComm (2020), 2021 Dec. PMID 34909756, Free PMC Article
    4. Sorting Nexin 27 as a potential target in G protein‑coupled receptor recycling for cancer therapy (Review). Bao Z, et al. Oncol Rep, 2020 Nov. PMID 33000258, Free PMC Article
    5. The human box C/D snoRNA U3 is a miRNA source and miR-U3 regulates expression of sortin nexin 27. Lemus-Diaz N, et al. Nucleic Acids Res, 2020 Aug 20. PMID 32609813, Free PMC Article

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HPV-18E6 Inhibits Interactions between TANC2 and SNX27 in a PBM-Dependent Manner and Promotes Increased Cell Proliferation.
      Title: HPV-18E6 Inhibits Interactions between TANC2 and SNX27 in a PBM-Dependent Manner and Promotes Increased Cell Proliferation.
    2. Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis.
      Title: Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis.
    3. Biochemical basis for an interaction between SNX27 and the flexible SNX1 N-terminus.
      Title: Biochemical basis for an interaction between SNX27 and the flexible SNX1 N-terminus.
    4. Sorting Nexin 27 Enables MTOC and Secretory Machinery Translocation to the Immune Synapse.
      Title: Sorting Nexin 27 Enables MTOC and Secretory Machinery Translocation to the Immune Synapse.
    5. SNX27 suppresses SARS-CoV-2 infection by inhibiting viral lysosome/late endosome entry.
      Title: SNX27 suppresses SARS-CoV-2 infection by inhibiting viral lysosome/late endosome entry.
    6. Phosphorylation of SNX27 by MAPK11/14 links cellular stress-signaling pathways with endocytic recycling.
      Title: Phosphorylation of SNX27 by MAPK11/14 links cellular stress-signaling pathways with endocytic recycling.
    7. Sorting Nexin 27 as a potential target in G proteincoupled receptor recycling for cancer therapy (Review).
      Title: Sorting Nexin 27 as a potential target in G protein‑coupled receptor recycling for cancer therapy (Review).
    8. Interplay Between SNX27 and DAG Metabolism in the Control of Trafficking and Signaling at the IS.
      Title: Interplay Between SNX27 and DAG Metabolism in the Control of Trafficking and Signaling at the IS.
    9. 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.
    10. The human box C/D snoRNA U3 is a miRNA source and miR-U3 regulates expression of sortin nexin 27.
      Title: The human box C/D snoRNA U3 is a miRNA source and miR-U3 regulates expression of sortin nexin 27.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0488, MGC20471, MGC126871, MGC126873

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome to lysosome transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of natural killer cell polarity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of WASH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in immunological synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    part_of retromer complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sorting nexin-27
    Names
    methamphetamine-responsive transcript 1
    sorting nexin family member 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)

    1. NM_001330723.2 → NP_001317652.1  sorting nexin-27 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL391335, AL589765
      Consensus CDS
      CCDS81377.1
      UniProtKB/Swiss-Prot
      Q32Q36, Q4AEJ5, Q5VWB0, Q5VWB1, Q5VWB2, Q6IPP6, Q86UB1, Q96D79, Q96L92, Q9H3K8
      Related
      ENSP00000400333.2, ENST00000458013.7
      Conserved Domains (4) summary
      cd06886
      Location:160 → 265
      PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
      cd00992
      Location:41 → 133
      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:425 → 526
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:273 → 365
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)

    2. NM_030918.6 → NP_112180.4  sorting nexin-27 isoform 2

      See identical proteins and their annotated locations for NP_112180.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB007957, AL391335, BC100998, CB853160
      Consensus CDS
      CCDS1001.1
      UniProtKB/Swiss-Prot
      Q96L92
      Related
      ENSP00000357836.3, ENST00000368843.8
      Conserved Domains (4) summary
      cd06886
      Location:160 → 265
      PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
      cd00992
      Location:41 → 133
      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:425 → 526
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:273 → 365
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151612050..151699080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450038.2 → XP_024305806.1  sorting nexin-27 isoform X8

      UniProtKB/TrEMBL
      A0A5H1ZRP6
      Conserved Domains (3) summary
      cd01777
      Location:88 → 174
      SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
      cd13338
      Location:239 → 340
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cl02563
      Location:1 → 79
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    2. XM_047431290.1 → XP_047287246.1  sorting nexin-27 isoform X4

      Related
      ENSP00000357831.2, ENST00000368838.2

    3. XM_005245510.4 → XP_005245567.1  sorting nexin-27 isoform X2

      See identical proteins and their annotated locations for XP_005245567.1

      UniProtKB/TrEMBL
      A0A5H1ZRP6
      Conserved Domains (4) summary
      cd06886
      Location:57 → 162
      PX_SNX27; The phosphoinositide binding Phox Homology domain of Sorting Nexin 27
      cd13338
      Location:322 → 423
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:170 → 262
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
      cl00117
      Location:2 → 30
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    4. XM_047431289.1 → XP_047287245.1  sorting nexin-27 isoform X3

    5. XM_011510024.3 → XP_011508326.1  sorting nexin-27 isoform X1

      See identical proteins and their annotated locations for XP_011508326.1

      Conserved Domains (3) summary
      cd13338
      Location:324 → 425
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cd01777
      Location:172 → 264
      FERM_F1_SNX27; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in sorting nexin protein 27 (SNX27)
      cl02563
      Location:70 → 164
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    6. XM_005245511.5 → XP_005245568.1  sorting nexin-27 isoform X7

      See identical proteins and their annotated locations for XP_005245568.1

      UniProtKB/TrEMBL
      A0A5H1ZRP6
      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

    7. XM_017002417.2 → XP_016857906.1  sorting nexin-27 isoform X6

      UniProtKB/TrEMBL
      A0A2R8Y8A7
      Related
      ENSP00000496645.1, ENST00000642376.1

    8. XM_011510025.3 → XP_011508327.1  sorting nexin-27 isoform X5

      Conserved Domains (3) summary
      cd01777
      Location:153 → 239
      SNX27_RA; Ubiquitin domain of SNX27 (sorting nexin protein 27)
      cd13338
      Location:304 → 405
      FERM-like_C_SNX27; Atypical FERM-like domain C-lobe of Sorting nexin 27
      cl02563
      Location:61 → 144
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150734456..150822464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338918.1 → XP_054194893.1  sorting nexin-27 isoform X6

      UniProtKB/TrEMBL
      A0A2R8Y8A7

    2. XM_054338917.1 → XP_054194892.1  sorting nexin-27 isoform X5

    3. XM_054338914.1 → XP_054194889.1  sorting nexin-27 isoform X2

    4. XM_054338919.1 → XP_054194894.1  sorting nexin-27 isoform X7

    5. XM_054338913.1 → XP_054194888.1  sorting nexin-27 isoform X1

    6. XM_054338915.1 → XP_054194890.1  sorting nexin-27 isoform X3

    7. XM_054338916.1 → XP_054194891.1  sorting nexin-27 isoform X4

    8. XM_054338920.1 → XP_054194895.1  sorting nexin-27 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96L92.2 GenPept UniProtKB/Swiss-Prot:Q96L92

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