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    ap1s1 adaptor related protein complex 1 subunit sigma 1 [ Danio rerio (zebrafish) ]

    Gene ID: 393279, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ap1s1provided by ZNC
    Official Full Name
    adaptor related protein complex 1 subunit sigma 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1119
    See related
    Ensembl:ENSDARG00000056803 AllianceGenome:ZFIN:ZDB-GENE-040426-1119
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:56704; zgc:85689
    Summary
    Predicted to enable clathrin adaptor activity. Acts upstream of or within extracellular matrix organization and nervous system development. Located in perinuclear region of cytoplasm and plasma membrane. Is expressed in several structures, including hatching gland; nervous system; polster; pronephric duct; and solid lens vesicle. Human ortholog(s) of this gene implicated in MEDNIK syndrome. Orthologous to human AP1S1 (adaptor related protein complex 1 subunit sigma 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See ap1s1 in Genome Data Viewer
    Location:
    chromosome: 7
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 7 NC_007118.7 (26245061..26263206, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 7 NC_007118.6 (25973868..25992013, complement)

    Chromosome 7 - NC_007118.7Genomic Context describing neighboring genes Neighboring gene N-acetyltransferase 16, like Neighboring gene VGF nerve growth factor inducible Neighboring gene serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Neighboring gene uncharacterized LOC137496169

    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. Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation. Ishizaki H, et al. Dis Model Mech, 2010 Sep-Oct. PMID 20713646, Free PMC Article
    2. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. Montpetit A, et al. PLoS Genet, 2008 Dec. PMID 19057675, Free PMC Article
    3. Subtle morphometric, behavioral and gene expression effects in larval zebrafish exposed to PFHxA, PFHxS and 6:2 FTOH. Annunziato KM, et al. Aquat Toxicol, 2019 Mar. PMID 30669116, Free PMC Article
    4. Effects of chronic perfluorooctanoic acid (PFOA) at low concentration on morphometrics, gene expression, and fecundity in zebrafish (Danio rerio). Jantzen CE, et al. Reprod Toxicol, 2017 Apr. PMID 28143724, Free PMC Article
    5. Phenotype anchoring in zebrafish reveals a potential role for matrix metalloproteinases (MMPs) in tamoxifen's effects on skin epithelium. Bugel SM, et al. Toxicol Appl Pharmacol, 2016 Apr 1. PMID 26908177, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The AP1S1 knockdown showed perturbation in skin and spinal cord development simialr to human neurocutaneous syndrome.
      Title: Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC56704

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables clathrin adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of membrane coat IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AP-1 complex subunit sigma-1A
    Names
    adaptor-related protein complex 1, sigma 1 subunit

    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_001328014.1 → NP_001314943.1  AP-1 complex subunit sigma-1A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BX470232
      UniProtKB/TrEMBL
      A0A8M1P3F1, Q6NSP1
      Related
      ENSDARP00000091884.4, ENSDART00000101109.6
      Conserved Domains (1) summary
      cd14831
      Location:3 → 145
      AP1_sigma; AP-1 complex subunit sigma

    2. NM_001328016.1 → NP_001314945.1  AP-1 complex subunit sigma-1A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is 1 aa shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      BX470232
      UniProtKB/TrEMBL
      A0A8M1P8N7, F1Q5Z2
      Related
      ENSDARP00000152182.1, ENSDART00000190369.1
      Conserved Domains (1) summary
      cd14831
      Location:2 → 144
      AP1_sigma; AP-1 complex subunit sigma

    3. NM_200309.2 → NP_956603.2  AP-1 complex subunit sigma-1A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BX470232
      UniProtKB/TrEMBL
      A0A2R8Q9P3, A0A8M1PB30
      Related
      ENSDARP00000151157.1, ENSDART00000193154.1

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007118.7 Reference GRCz11 Primary Assembly

      Range
      26245061..26263206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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