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    SNX11 sorting nexin 11 [ Homo sapiens (human) ]

    Gene ID: 29916, updated on 28-Oct-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SNX11 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48107523..48123601)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48970884..48986962)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    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_001330320.2NP_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_013323.3NP_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:18129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
    3. NM_152244.2NP_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:18129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10

    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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005257262.4XP_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:10121
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
    2. XM_005257260.4XP_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:18129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
    3. XM_011524697.3XP_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:18129
      PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
    4. XM_047435873.1XP_047291829.1  sorting nexin-11 isoform X2

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

      UniProtKB/TrEMBL
      B4DKH7
      Conserved Domains (1) summary
      cl02563
      Location:256
      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_054315887.1XP_054171862.1  sorting nexin-11 isoform X2

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

      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9
    3. XM_054315884.1XP_054171859.1  sorting nexin-11 isoform X1

      UniProtKB/Swiss-Prot
      B3KRL6, B4DPY5, D3DTV0, Q53YC0, Q9H885, Q9Y5W9
    4. XM_054315886.1XP_054171861.1  sorting nexin-11 isoform X2

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