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    SNX13 sorting nexin 13 [ Homo sapiens (human) ]

    Gene ID: 23161, updated on 10-Dec-2024

    Summary

    Official Symbol
    SNX13provided by HGNC
    Official Full Name
    sorting nexin 13provided by HGNC
    Primary source
    HGNC:HGNC:21335
    See related
    Ensembl:ENSG00000071189 MIM:606589; AllianceGenome:HGNC:21335
    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
    Also known as
    RGS-PX1
    Summary
    This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.8), testis (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SNX13 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (17790761..17940494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (17920498..18070184, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (17830385..17980117, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2888 Neighboring gene uncharacterized LOC105375172 Neighboring gene long intergenic non-protein coding RNA 2889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17986 Neighboring gene Sharpr-MPRA regulatory region 7324 Neighboring gene NANOG hESC enhancer GRCh37_chr7:17638482-17638983 Neighboring gene NANOG hESC enhancer GRCh37_chr7:17702244-17702762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25676 Neighboring gene Sharpr-MPRA regulatory region 6645 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:17864406-17864592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:17960890-17961390 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:18017138-18017327 Neighboring gene MRM3 pseudogene 2 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0713

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sorting nexin-13
    Names
    rgs domain- and phox domain-containing protein

    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_001350862.2NP_001337791.1  sorting nexin-13 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC073205, AC080080
      UniProtKB/Swiss-Prot
      B2RCI9, O94821, Q8WVZ2, Q8WXH8, Q9Y5W8
      UniProtKB/TrEMBL
      Q86XC4
      Related
      ENSP00000479044.1, ENST00000611725.4
      Conserved Domains (4) summary
      cd06873
      Location:557687
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:377511
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      smart00313
      Location:97284
      PXA; Domain associated with PX domains
      pfam08628
      Location:803911
      Nexin_C; Sorting nexin C terminal
    2. NM_001350863.2NP_001337792.1  sorting nexin-13 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC073205, AC080080
      UniProtKB/TrEMBL
      Q86XC4
      Conserved Domains (4) summary
      cd06873
      Location:477596
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:297431
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      smart00313
      Location:17204
      PXA; Domain associated with PX domains
      pfam08628
      Location:712820
      Nexin_C; Sorting nexin C terminal
    3. NM_001350864.2NP_001337793.1  sorting nexin-13 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), encodes isoform d.
      Source sequence(s)
      AC073205, AC080080
      UniProtKB/TrEMBL
      Q86XC4
      Conserved Domains (4) summary
      cd06873
      Location:455574
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:275409
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      pfam08628
      Location:690798
      Nexin_C; Sorting nexin C terminal
      cl02564
      Location:45182
      PXA; PXA domain
    4. NM_001350866.2NP_001337795.1  sorting nexin-13 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform e.
      Source sequence(s)
      AC073205, AC080080
      UniProtKB/TrEMBL
      B3KN60
      Conserved Domains (4) summary
      cd06873
      Location:354473
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:174308
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      pfam08628
      Location:589697
      Nexin_C; Sorting nexin C terminal
      cl02564
      Location:1381
      PXA; PXA domain
    5. NM_001350867.2NP_001337796.1  sorting nexin-13 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform e.
      Source sequence(s)
      AC073205, AC080080
      UniProtKB/TrEMBL
      B3KN60
      Conserved Domains (4) summary
      cd06873
      Location:354473
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:174308
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      pfam08628
      Location:589697
      Nexin_C; Sorting nexin C terminal
      cl02564
      Location:1381
      PXA; PXA domain
    6. NM_001350868.2NP_001337797.1  sorting nexin-13 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC073205, AC080080
      Conserved Domains (2) summary
      cd08719
      Location:377511
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      smart00313
      Location:97284
      PXA; Domain associated with PX domains
    7. NM_001350870.2NP_001337799.1  sorting nexin-13 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC073205, AC080080
      Consensus CDS
      CCDS87483.1
      UniProtKB/TrEMBL
      Q9NSH0
      Related
      ENSP00000386639.1, ENST00000409604.1
      Conserved Domains (1) summary
      cl02564
      Location:97149
      PXA; PXA domain
    8. NM_015132.5NP_055947.1  sorting nexin-13 isoform b

      See identical proteins and their annotated locations for NP_055947.1

      Status: REVIEWED

      Source sequence(s)
      AC073205, AF420470, BC045667, DB050735
      Consensus CDS
      CCDS47551.1
      UniProtKB/TrEMBL
      Q86XC4
      Related
      ENSP00000398789.2, ENST00000428135.7
      Conserved Domains (4) summary
      cd06873
      Location:557676
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:377511
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      smart00313
      Location:97284
      PXA; Domain associated with PX domains
      pfam08628
      Location:792900
      Nexin_C; Sorting nexin C terminal

    RNA

    1. NR_146932.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073205, AC080080
    2. NR_146933.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073205, AC080080

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      17790761..17940494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011893.3XP_016867382.1  sorting nexin-13 isoform X2

      UniProtKB/TrEMBL
      Q86XC4
    2. XM_011515229.3XP_011513531.1  sorting nexin-13 isoform X1

      UniProtKB/TrEMBL
      Q86XC4
      Conserved Domains (4) summary
      cd06873
      Location:557687
      PX_SNX13; The phosphoinositide binding Phox Homology domain of Sorting Nexin 13
      cd08719
      Location:377511
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      smart00313
      Location:97284
      PXA; Domain associated with PX domains
      pfam08628
      Location:749857
      Nexin_C; Sorting nexin C terminal
    3. XM_047420073.1XP_047276029.1  sorting nexin-13 isoform X3

      UniProtKB/TrEMBL
      Q86XC4
    4. XM_047420074.1XP_047276030.1  sorting nexin-13 isoform X4

      UniProtKB/TrEMBL
      Q86XC4
    5. XM_047420075.1XP_047276031.1  sorting nexin-13 isoform X5

    6. XM_005249673.6XP_005249730.1  sorting nexin-13 isoform X6

      Conserved Domains (2) summary
      cd08719
      Location:377511
      RGS_SNX13; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin 13 (SNX13) protein
      smart00313
      Location:97284
      PXA; Domain associated with PX domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      17920498..18070184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357672.1XP_054213647.1  sorting nexin-13 isoform X2

      UniProtKB/TrEMBL
      Q86XC4
    2. XM_054357671.1XP_054213646.1  sorting nexin-13 isoform X1

      UniProtKB/TrEMBL
      Q86XC4
    3. XM_054357673.1XP_054213648.1  sorting nexin-13 isoform X3

      UniProtKB/TrEMBL
      Q86XC4
    4. XM_054357674.1XP_054213649.1  sorting nexin-13 isoform X4

      UniProtKB/TrEMBL
      Q86XC4
    5. XM_054357675.1XP_054213650.1  sorting nexin-13 isoform X5

    6. XM_054357676.1XP_054213651.1  sorting nexin-13 isoform X6