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SNX11 sorting nexin 11 [ Homo sapiens (human) ]

Gene ID: 29916, updated on 3-Apr-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
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 membrane IEA
Inferred from Electronic Annotation
more info
  

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

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