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SNX7 sorting nexin 7 [ Homo sapiens (human) ]

Gene ID: 51375, updated on 19-Jun-2019

Summary

Official Symbol
SNX7provided by HGNC
Official Full Name
sorting nexin 7provided by HGNC
Primary source
HGNC:HGNC:14971
See related
Ensembl:ENSG00000162627 MIM:614904
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, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in colon (RPKM 10.6), small intestine (RPKM 8.3) and 24 other tissues See more
Orthologs

Genomic context

See SNX7 in Genome Data Viewer
Location:
1p21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (98661284..98760500)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (99127236..99226056)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NFU1 iron-sulfur cluster scaffold pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 1776 Neighboring gene phospholipid phosphatase related 5 Neighboring gene uncharacterized LOC100129620 Neighboring gene phospholipid phosphatase related 4

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 identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8717, DKFZp564F052

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle 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_001364903.1NP_001351832.1  sorting nexin-7 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL627442
    Conserved Domains (2) summary
    cd07284
    Location:32147
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cd07666
    Location:131373
    BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
  2. NM_015976.5NP_057060.2  sorting nexin-7 isoform a

    See identical proteins and their annotated locations for NP_057060.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL627442
    Consensus CDS
    CCDS755.2
    UniProtKB/Swiss-Prot
    Q9UNH6
    Related
    ENSP00000304429.3, ENST00000306121.8
    Conserved Domains (2) summary
    cd07284
    Location:96211
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cd07666
    Location:195437
    BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
  3. NM_152238.4NP_689424.2  sorting nexin-7 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AL627442
    Consensus CDS
    CCDS756.2
    UniProtKB/Swiss-Prot
    Q9UNH6
    UniProtKB/TrEMBL
    B4DP69, E9PNL2
    Related
    ENSP00000434731.1, ENST00000529992.5
    Conserved Domains (2) summary
    cd06860
    Location:96214
    PX_SNX7_30_like; The phosphoinositide binding Phox Homology domain of Sorting Nexins 7 and 30
    cl12013
    Location:159382
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. NR_033716.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional internal exon in the 5' region but lacks an internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK025031, AK223229, AL548028, BC018105
    Related
    ENST00000528824.1

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    98661284..98760500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001425.2XP_016856914.1  sorting nexin-7 isoform X2

    UniProtKB/Swiss-Prot
    Q9UNH6
    Conserved Domains (2) summary
    cd07284
    Location:32147
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cd07666
    Location:131373
    BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
  2. XM_017001428.1XP_016856917.1  sorting nexin-7 isoform X3

    UniProtKB/Swiss-Prot
    Q9UNH6
    Conserved Domains (2) summary
    cd07284
    Location:32147
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cl12013
    Location:131322
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_006710677.2XP_006710740.1  sorting nexin-7 isoform X1

    Conserved Domains (2) summary
    cd07284
    Location:118233
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cl12013
    Location:217408
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_017001426.2XP_016856915.1  sorting nexin-7 isoform X2

    UniProtKB/Swiss-Prot
    Q9UNH6
    Conserved Domains (2) summary
    cd07284
    Location:32147
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cd07666
    Location:131373
    BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
  5. XM_017001427.2XP_016856916.1  sorting nexin-7 isoform X2

    UniProtKB/Swiss-Prot
    Q9UNH6
    Conserved Domains (2) summary
    cd07284
    Location:32147
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cd07666
    Location:131373
    BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
  6. XM_011541564.3XP_011539866.1  sorting nexin-7 isoform X2

    See identical proteins and their annotated locations for XP_011539866.1

    UniProtKB/Swiss-Prot
    Q9UNH6
    Conserved Domains (2) summary
    cd07284
    Location:32147
    PX_SNX7; The phosphoinositide binding Phox Homology domain of Sorting Nexin 7
    cd07666
    Location:131373
    BAR_SNX7; The Bin/Amphiphysin/Rvs (BAR) domain of Sorting Nexin 7
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