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Gene

ap4s1

ID
ZDB-GENE-030616-404
Name
adaptor related protein complex 4 subunit sigma 1
Symbol
ap4s1 Nomenclature History
Previous Names
  • si:dz115o7.1
  • si:dz234g15.5
  • zgc:136677
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Involved in central nervous system neuron axonogenesis. Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in central nervous system. Used to study hereditary spastic paraplegia 52. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 52. Orthologous to human AP4S1 (adaptor related protein complex 4 subunit sigma 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from D'Amore et al., 2020
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from D'Amore et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ap4s1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary spastic paraplegia 52 Alliance Spastic paraplegia 52, autosomal recessive 614067
Associated With ap4s1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR022775 AP complex, mu/sigma subunit
Family IPR016635 Adaptor protein complex, sigma subunit
Homologous_superfamily IPR011012 Longin-like domain superfamily
Domain Details Per Protein
Protein Length Adaptor protein complex, sigma subunit AP complex, mu/sigma subunit Longin-like domain superfamily
UniProtKB:E9QFP9 115
UniProtKB:Q78AM7 140
UniProtKB:K9J6Q2 146
UniProtKB:Q29RE3 144
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations