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SNX11 sorting nexin 11 [ Homo sapiens (human) ]

Gene ID: 29916, updated on 17-Jun-2019

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
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

Genomic context

See SNX11 in Genome Data Viewer
Location:
17q21.32
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48107533..48123601)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46184911..46200109)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nuclear factor, erythroid 2 like 1 Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene chromobox 1 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
  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111019

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
vesicle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_001330320.1NP_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/Swiss-Prot
    Q9Y5W9
    Related
    ENSP00000463948.1, ENST00000582104.5
  2. NM_013323.2NP_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)
    AF121861
    Consensus CDS
    CCDS11526.1
    UniProtKB/Swiss-Prot
    Q9Y5W9
    Related
    ENSP00000352175.2, ENST00000359238.6
    Conserved Domains (1) summary
    cd06898
    Location:18129
    PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
  3. NM_152244.1NP_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)
    AK023932
    Consensus CDS
    CCDS11526.1
    UniProtKB/Swiss-Prot
    Q9Y5W9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48107533..48123601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524697.2XP_011522999.1  sorting nexin-11 isoform X1

    See identical proteins and their annotated locations for XP_011522999.1

    UniProtKB/Swiss-Prot
    Q9Y5W9
    Conserved Domains (1) summary
    cd06898
    Location:18129
    PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
  2. XM_005257262.3XP_005257319.1  sorting nexin-11 isoform X2

    See identical proteins and their annotated locations for XP_005257319.1

    UniProtKB/Swiss-Prot
    Q9Y5W9
    Related
    ENSP00000462188.1, ENST00000580219.5
    Conserved Domains (1) summary
    cd06898
    Location:10121
    PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
  3. XM_005257260.3XP_005257317.1  sorting nexin-11 isoform X1

    See identical proteins and their annotated locations for XP_005257317.1

    UniProtKB/Swiss-Prot
    Q9Y5W9
    Conserved Domains (1) summary
    cd06898
    Location:18129
    PX_SNX10; The phosphoinositide binding Phox Homology domain of Sorting Nexin 10
  4. XM_024450736.1XP_024306504.1  sorting nexin-11 isoform X3

    Conserved Domains (1) summary
    cl02563
    Location:256
    PX_domain; The Phox Homology domain, a phosphoinositide binding module
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