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    SNX11 sorting nexin 11 [ Homo sapiens (human) ]

    Gene ID: 29916, updated on 3-May-2024

    Summary

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    Official Symbol
    SNX11provided by HGNC
    Official Full Name
    sorting nexin 11provided by HGNC
    Primary source
    HGNC:HGNC:14975
    See related
    Ensembl:ENSG00000002919 MIM:614906; AllianceGenome:HGNC:14975
    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
    Summary
    This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.8), spleen (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q21.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48107523..48123601)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48970884..48986962)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46185128..46200963)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:46125699-46126300 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46131609-46132468 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46133329-46134186 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46134187-46135046 Neighboring gene NFE2 like bZIP transcription factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46171341-46171930 Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46178573-46179172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8650 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:46186828-46187001 Neighboring gene chromobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12327 Neighboring gene uncharacterized LOC124904018 Neighboring gene VISTA enhancer hs697 Neighboring gene src kinase associated phosphoprotein 1 Neighboring gene microRNA 1203

    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. Molecular Basis for PI(3,5)P(2) Recognition by SNX11, a Protein Involved in Lysosomal Degradation and Endosome Homeostasis Regulation. Xu T, et al. J Mol Biol, 2020 Jul 24. PMID 32561432
    2. SNX11 Identified as an Essential Host Factor for SFTS Virus Infection by CRISPR Knockout Screening. Liu T, et al. Virol Sin, 2019 Oct. PMID 31215001, Free PMC Article
    3. Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation. Xu J, et al. J Biol Chem, 2013 Jun 7. PMID 23615901, Free PMC Article
    4. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. EPICURE Consortium, et al. Hum Mol Genet, 2012 Dec 15. PMID 22949513
    5. Sorting out the cellular functions of sorting nexins. Worby CA, et al. Nat Rev Mol Cell Biol, 2002 Dec. PMID 12461558

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Basis for PI(3,5)P2 Recognition by SNX11, a Protein Involved in Lysosomal Degradation and Endosome Homeostasis Regulation.
      Title: Molecular Basis for PI(3,5)P(2) Recognition by SNX11, a Protein Involved in Lysosomal Degradation and Endosome Homeostasis Regulation.
    2. penetration of Severe fever with thrombocytopenia syndrome virus from the endolysosomes into the cytoplasm of host cells was blocked in the cells lacking SNX11
      Title: SNX11 Identified as an Essential Host Factor for SFTS Virus Infection by CRISPR Knockout Screening.
    3. Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation.
      Title: Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
    EBI GWAS Catalog

    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

    • MGC111019

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol 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 intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sorting nexin-11

    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_001330320.2 → NP_001317249.1  sorting nexin-11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at an alternate start site, and uses an alternate splice site in the 5' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC006468, AK298551, AW590785, BC103721, DA448711
      Consensus CDS
      CCDS82152.1
      UniProtKB/TrEMBL
      J3QLV8
      Related
      ENSP00000463948.1, ENST00000582104.5

    2. NM_013323.3 → NP_037455.2  sorting nexin-11 isoform 1

      See identical proteins and their annotated locations for NP_037455.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC006468
      Consensus CDS
      CCDS11526.1
      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9
      UniProtKB/TrEMBL
      J3QLV8
      Related
      ENSP00000352175.2, ENST00000359238.7
      Conserved Domains (1) summary
      cd06898
      Location:18 → 129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10

    3. NM_152244.2 → NP_689450.1  sorting nexin-11 isoform 1

      See identical proteins and their annotated locations for NP_689450.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC006468
      Consensus CDS
      CCDS11526.1
      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9
      UniProtKB/TrEMBL
      J3QLV8
      Related
      ENSP00000377059.2, ENST00000393405.6
      Conserved Domains (1) summary
      cd06898
      Location:18 → 129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      48107523..48123601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257262.4 → XP_005257319.1  sorting nexin-11 isoform X2

      See identical proteins and their annotated locations for XP_005257319.1

      UniProtKB/TrEMBL
      J3QLV8
      Related
      ENSP00000462188.1, ENST00000580219.5
      Conserved Domains (1) summary
      cd06898
      Location:10 → 121
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10

    2. XM_005257260.4 → XP_005257317.1  sorting nexin-11 isoform X1

      See identical proteins and their annotated locations for XP_005257317.1

      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9
      UniProtKB/TrEMBL
      J3QLV8
      Conserved Domains (1) summary
      cd06898
      Location:18 → 129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10

    3. XM_011524697.3 → XP_011522999.1  sorting nexin-11 isoform X1

      See identical proteins and their annotated locations for XP_011522999.1

      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9
      UniProtKB/TrEMBL
      J3QLV8
      Related
      ENSP00000463726.1, ENST00000584335.5
      Conserved Domains (1) summary
      cd06898
      Location:18 → 129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10

    4. XM_047435873.1 → XP_047291829.1  sorting nexin-11 isoform X2

    5. XM_024450736.2 → XP_024306504.1  sorting nexin-11 isoform X3

      UniProtKB/TrEMBL
      B4DKH7
      Conserved Domains (1) summary
      cl02563
      Location:2 → 56
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48970884..48986962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315887.1 → XP_054171862.1  sorting nexin-11 isoform X2

    2. XM_054315885.1 → XP_054171860.1  sorting nexin-11 isoform X1

      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9

    3. XM_054315884.1 → XP_054171859.1  sorting nexin-11 isoform X1

      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9

    4. XM_054315886.1 → XP_054171861.1  sorting nexin-11 isoform X2

    5. XM_054315888.1 → XP_054171863.1  sorting nexin-11 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5W9.2 GenPept UniProtKB/Swiss-Prot:Q9Y5W9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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