ZFIN ID: ZDB-GENE-040426-2174
Gene Name: adaptor related protein complex 2 subunit sigma 1
Gene Symbol: ap2s1    Nomenclature History

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Previous Names: fb52e12, igib, ignorance is bliss (1), wu:fb52e12, wu:fk78e12, zgc:65827

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 15 Mapping Details/Browsers
Description: Involved in habituation. Predicted to localize to the intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in familial hypocalciuric hypercalcemia 3. Orthologous to human AP2S1 (adaptor related protein complex 2 subunit sigma 1).
Genome Resources: Alliance (1),  Gene:100148085 (1),  Ensembl(GRCz11):ENSDARG00000026967 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
p172 Point Mutation Donor Splice Site of Intron 3 Exon Loss of Exon 3 ENU
p199 Indel Unknown Frameshift, Premature Stop CRISPR
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-ap2s1 1
PHENOTYPE
Data: 2 figures from 2 publications
Observed in:
DISEASE ASSOCIATED WITH ap2s1 HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
familial hypocalciuric hypercalcemia 3 Alliance Hypocalciuric hypercalcemia, type III 600740
DISEASE ASSOCIATED WITH ap2s1 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process habituation (more)
Cellular Component AP-2 adaptor complex (more)
Molecular Function clathrin adaptor activity (more)
GO Terms (all 10)
PROTEIN FAMILIES, DOMAINS AND SITES
Type InterPro ID Name
Conserved_site IPR000804 Clathrin adaptor complex, small chain
Domain IPR022775 AP complex, mu/sigma subunit
Family IPR016635 Adaptor protein complex, sigma subunit
Family IPR027156 AP-2 complex subunit sigma
Homologous_superfamily IPR011012 Longin-like domain superfamily
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA ap2s1-201 (1)    Ensembl 2805
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM ap2s1 No data available
MARKER RELATIONSHIPS
ap2s1 Contained in: [BAC] CH211-13K20 (1)
ap2s1 Encodes: [EST] fb52e12, fk78e12 (1)
[cDNA] MGC:65827 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_213155 (1) 3320 nt
Genomic GenBank:CR293508 (1) 168933 nt
Select Tool
Polypeptide UniProtKB:Q6PEJ2 (1) 142 aa
Sequence Information (all 16)
ORTHOLOGY for ap2s1 ( Chr: 15 )
CITATIONS (24)