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    SNX31 sorting nexin 31 [ Homo sapiens (human) ]

    Gene ID: 169166, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SNX31provided by HGNC
    Official Full Name
    sorting nexin 31provided by HGNC
    Primary source
    HGNC:HGNC:28605
    See related
    Ensembl:ENSG00000174226 MIM:619839; AllianceGenome:HGNC:28605
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in endocytic recycling and intracellular protein transport. Predicted to be located in cytoskeleton. Predicted to be part of protein-containing complex. Predicted to be active in early endosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in urinary bladder (RPKM 11.1), esophagus (RPKM 2.0) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNX31 in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (100572874..100663585, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101698913..101789632, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101585102..101661893, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901992 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:101499786-101500985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101503341-101504286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27708 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr8:101506997-101507937 and GRCh37_chr8:101507938-101508879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:101508880-101509820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101511587-101512088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101512089-101512588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101522255-101522840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19418 Neighboring gene ankyrin repeat domain 46 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27713 Neighboring gene MPRA-validated peak7124 silencer Neighboring gene Sharpr-MPRA regulatory region 13822 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 Neighboring gene uncharacterized LOC105375671 Neighboring gene uncharacterized LOC105375672 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:101679632-101680242 Neighboring gene RNA, U6 small nuclear 1092, pseudogene Neighboring gene microRNA 7705 Neighboring gene poly(A) binding protein cytoplasmic 1

    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 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. Lack of deleterious somatic mutations in the CD95 gene of plasmablasts from systemic lupus erythematosus patients and autoantibody-producing cell lines. Kurth J, et al. Eur J Immunol, 2002 Dec. PMID 12516573
    2. SNX31: a novel sorting nexin associated with the uroplakin-degrading multivesicular bodies in terminally differentiated urothelial cells. Vieira N, et al. PLoS One, 2014. PMID 24914955, Free PMC Article
    3. The Phox (PX) domain proteins and membrane traffic. Seet LF, et al. Biochim Biophys Acta, 2006 Aug. PMID 16782399
    4. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. McNally KE, et al. Nat Cell Biol, 2017 Oct. PMID 28892079, Free PMC Article
    5. Genome-wide shRNA screening identifies host factors involved in early endocytic events for HIV-1-induced CD4 down-regulation. Landi A, et al. Retrovirology, 2014 Dec 13. PMID 25496667, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies SNX31, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC39715

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sorting nexin-31

    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_001363720.1 → NP_001350649.1  sorting nexin-31 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK093906, AP000424, AP001205, BC031260, DB312716
      Consensus CDS
      CCDS87622.1
      Related
      ENSP00000405024.2, ENST00000428383.6
      Conserved Domains (2) summary
      cd13336
      Location:171 → 285
      FERM-like_C_SNX31; Atypical FERM-like domain C-lobe of Sorting nexin 31
      cl09511
      Location:22 → 152
      FERM_B-lobe; FERM domain B-lobe

    2. NM_152628.4 → NP_689841.3  sorting nexin-31 isoform 1

      See identical proteins and their annotated locations for NP_689841.3

      Status: VALIDATED

      Source sequence(s)
      AK093906, AP001205, BQ012274, CD106024
      Consensus CDS
      CCDS6288.1
      UniProtKB/Swiss-Prot
      C9J6L9, Q8N0U9, Q8N9S9
      Related
      ENSP00000312368.2, ENST00000311812.7
      Conserved Domains (3) summary
      cd06885
      Location:4 → 106
      PX_SNX17_31; The phosphoinositide binding Phox Homology domain of Sorting Nexins 17 and 31
      cd13336
      Location:270 → 384
      FERM-like_C_SNX31; Atypical FERM-like domain C-lobe of Sorting nexin 31
      cl00155
      Location:119 → 204
      UBQ; Ubiquitin-like proteins

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      100572874..100663585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516899.2 → XP_011515201.1  sorting nexin-31 isoform X8

      Conserved Domains (3) summary
      cd13336
      Location:204 → 318
      FERM-like_C_SNX31; Atypical FERM-like domain C-lobe of Sorting nexin 31
      cl00155
      Location:53 → 138
      UBQ; Ubiquitin-like proteins
      cl02563
      Location:1 → 40
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    2. XM_024447085.2 → XP_024302853.1  sorting nexin-31 isoform X12

      Conserved Domains (2) summary
      cd06885
      Location:4 → 106
      PX_SNX17_31; The phosphoinositide binding Phox Homology domain of Sorting Nexins 17 and 31
      cd13336
      Location:187 → 301
      FERM-like_C_SNX31; Atypical FERM-like domain C-lobe of Sorting nexin 31

    3. XM_017013161.2 → XP_016868650.1  sorting nexin-31 isoform X10

    4. XM_017013162.2 → XP_016868651.1  sorting nexin-31 isoform X13

    5. XM_017013160.2 → XP_016868649.1  sorting nexin-31 isoform X9

    6. XM_017013159.2 → XP_016868648.1  sorting nexin-31 isoform X7

    7. XM_017013158.2 → XP_016868647.1  sorting nexin-31 isoform X6

    8. XM_017013157.2 → XP_016868646.1  sorting nexin-31 isoform X5

    9. XM_017013156.2 → XP_016868645.1  sorting nexin-31 isoform X4

    10. XM_017013154.2 → XP_016868643.1  sorting nexin-31 isoform X1

    11. XM_017013163.2 → XP_016868652.1  sorting nexin-31 isoform X15

    12. XM_024447086.2 → XP_024302854.1  sorting nexin-31 isoform X14

      Conserved Domains (2) summary
      cl09511
      Location:22 → 152
      FERM_B-lobe; FERM domain B-lobe
      cl17171
      Location:171 → 247
      PH-like; Pleckstrin homology-like domain

    13. XM_024447084.2 → XP_024302852.1  sorting nexin-31 isoform X11

      Conserved Domains (2) summary
      cd13336
      Location:171 → 285
      FERM-like_C_SNX31; Atypical FERM-like domain C-lobe of Sorting nexin 31
      cl09511
      Location:22 → 152
      FERM_B-lobe; FERM domain B-lobe

    14. XM_017013155.1 → XP_016868644.1  sorting nexin-31 isoform X3

    15. XM_017013153.1 → XP_016868642.1  sorting nexin-31 isoform X2

    16. XM_017013165.1 → XP_016868654.1  sorting nexin-31 isoform X16

    17. XM_017013164.1 → XP_016868653.1  sorting nexin-31 isoform X16

    18. XM_047421413.1 → XP_047277369.1  sorting nexin-31 isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      101698913..101789632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359891.1 → XP_054215866.1  sorting nexin-31 isoform X8

    2. XM_054359895.1 → XP_054215870.1  sorting nexin-31 isoform X12

    3. XM_054359893.1 → XP_054215868.1  sorting nexin-31 isoform X10

    4. XM_054359896.1 → XP_054215871.1  sorting nexin-31 isoform X13

    5. XM_054359892.1 → XP_054215867.1  sorting nexin-31 isoform X9

    6. XM_054359890.1 → XP_054215865.1  sorting nexin-31 isoform X7

    7. XM_054359889.1 → XP_054215864.1  sorting nexin-31 isoform X6

    8. XM_054359888.1 → XP_054215863.1  sorting nexin-31 isoform X5

    9. XM_054359887.1 → XP_054215862.1  sorting nexin-31 isoform X4

    10. XM_054359884.1 → XP_054215859.1  sorting nexin-31 isoform X1

    11. XM_054359898.1 → XP_054215873.1  sorting nexin-31 isoform X15

    12. XM_054359897.1 → XP_054215872.1  sorting nexin-31 isoform X14

    13. XM_054359894.1 → XP_054215869.1  sorting nexin-31 isoform X11

    14. XM_054359886.1 → XP_054215861.1  sorting nexin-31 isoform X3

    15. XM_054359885.1 → XP_054215860.1  sorting nexin-31 isoform X2

    16. XM_054359900.1 → XP_054215875.1  sorting nexin-31 isoform X16

    17. XM_054359899.1 → XP_054215874.1  sorting nexin-31 isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9S9.3 GenPept UniProtKB/Swiss-Prot:Q8N9S9

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