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    snx14 sorting nexin 14 [ Danio rerio (zebrafish) ]

    Gene ID: 555970, updated on 27-Mar-2024

    Summary

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    Official Symbol
    snx14provided by ZNC
    Official Full Name
    sorting nexin 14provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040724-144
    See related
    Ensembl:ENSDARG00000006332 AllianceGenome:ZFIN:ZDB-GENE-040724-144
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    si:ch211-241p10.3
    Summary
    Predicted to enable phosphatidylinositol-3,5-bisphosphate binding activity. Involved in autophagosome maturation. Acts upstream of or within autophagy and cerebellar Purkinje cell layer development. Predicted to be located in lysosome. Predicted to be active in late endosome. Is expressed in central nervous system. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 20. Orthologous to human SNX14 (sorting nexin 14). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    human mouse all
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    Genomic context

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    See snx14 in Genome Data Viewer
    Location:
    chromosome: 20
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    106 current GRCz11 (GCF_000002035.6) 20 NC_007131.7 (851579..894408, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 20 NC_007131.6 (830753..873581, complement)

    Chromosome 20 - NC_007131.7Genomic Context describing neighboring genes Neighboring gene meiosis-specific, MEI4 homolog (S. cerevisiae) Neighboring gene 5'-nucleotidase, ecto (CD73) Neighboring gene cannabinoid receptor 1 Neighboring gene RNA guanylyltransferase and 5'-phosphatase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Akizu N, et al. Nat Genet, 2015 May. PMID 25848753, Free PMC Article
    2. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Bryant D, et al. Sci Rep, 2020 Aug 13. PMID 32792680, Free PMC Article
    3. A shifted repertoire of endocannabinoid genes in the zebrafish (Danio rerio). McPartland JM, et al. Mol Genet Genomics, 2007 May. PMID 17256142
    4. An antiapoptotic role of sorting nexin 7 is required for liver development in zebrafish. Xu L, et al. Hepatology, 2012 Jun. PMID 22213104
    5. Hematopoietic gene expression profile in zebrafish kidney marrow. Song HD, et al. Proc Natl Acad Sci U S A, 2004 Nov 16. PMID 15520368, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
      Title: Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC158354

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagosome maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebellar Purkinje cell layer development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hindbrain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sorting nexin-14

    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_001044793.1 → NP_001038258.1  sorting nexin-14

      Status: PROVISIONAL

      Source sequence(s)
      BX537259
      UniProtKB/TrEMBL
      A0A8N1YYQ3, E9QIC3
      Related
      ENSDARP00000095495.4, ENSDART00000104725.5
      Conserved Domains (4) summary
      cd06877
      Location:555 → 673
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:339 → 465
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:796 → 899
      Nexin_C; Sorting nexin C terminal

    RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007131.7 Reference GRCz11 Primary Assembly

      Range
      851579..894408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005160316.2 → XP_005160373.1  sorting nexin-14 isoform X2

      See identical proteins and their annotated locations for XP_005160373.1

      UniProtKB/Swiss-Prot
      A1L1U0, Q5PNP1
      Related
      ENSDARP00000119620.2, ENSDART00000142361.4
      Conserved Domains (4) summary
      cd06877
      Location:555 → 673
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:339 → 465
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:794 → 897
      Nexin_C; Sorting nexin C terminal

    2. XM_005160315.2 → XP_005160372.1  sorting nexin-14 isoform X1

      UniProtKB/TrEMBL
      A0A8M2B751
      Conserved Domains (4) summary
      cd06877
      Location:563 → 681
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:339 → 465
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:802 → 905
      Nexin_C; Sorting nexin C terminal
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5PNP1.3 GenPept UniProtKB/Swiss-Prot:Q5PNP1

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