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SNX27 sorting nexin 27 [ Homo sapiens (human) ]

Gene ID: 81609, updated on 2-Nov-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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See SNX27 in Genome Data Viewer
Location:
1q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151612050..151699080)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150734456..150822464)
RS_2024_09 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 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. Interplay Between SNX27 and DAG Metabolism in the Control of Trafficking and Signaling at the IS. González-Mancha N, et al. Int J Mol Sci, 2020 Jun 15. PMID 32549284, Free PMC Article
  2. 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
  3. Crystal Structure of the PX Domain of SNX27. Li Y, et al. Biochemistry (Mosc), 2019 Feb. PMID 31216973
  4. Deletion of sorting nexin 27 suppresses proliferation in highly aggressive breast cancer MDA-MB-231 cells in vitro and in vivo. Zhang J, et al. BMC Cancer, 2019 Jun 10. PMID 31182056, Free PMC Article
  5. SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis. Sharma P, et al. J Cell Biol, 2020 Jan 6. PMID 31820782, Free PMC Article

See all (119) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HPV-18 E6 enhances the interaction between EMILIN2 and SNX27 to promote WNT signaling.
    Title: HPV-18 E6 enhances the interaction between EMILIN2 and SNX27 to promote WNT signaling.
  2. Circular RNA SNX27 Facilitates Gastric Cancer Progression By Sponging miR-638.
    Title: Circular RNA SNX27 Facilitates Gastric Cancer Progression By Sponging miR-638.
  3. 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.
  4. Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis.
    Title: Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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).
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (48)

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 
acts_upstream_of_or_within endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 regulation of synapse maturation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of synapse maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
located_in postsynaptic early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic recycling endosome IEA
Inferred from Electronic Annotation
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_2024_08

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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