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

Gene ID: 393279, updated on 2-Nov-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, Nov 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 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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