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Aliases for AP4S1 Gene

Aliases for AP4S1 Gene

  • Adaptor Related Protein Complex 4 Sigma 1 Subunit 2 3
  • Adaptor-Related Protein Complex 4, Sigma 1 Subunit 2 3
  • Adaptor Related Protein Complex 4, Sigma 1 Subunit 3 5
  • Adaptor-Related Protein Complex 4 Subunit Sigma-1 3 4
  • AP-4 Adaptor Complex Subunit Sigma-1 3 4
  • Sigma-4-Adaptin 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Sigma 4 3
  • AP-4 Adapter Complex Subunit Sigma-1 3
  • Sigma-1 Subunit Of AP-4 4
  • Sigma4-Adaptin 4
  • CLAPS4 3
  • AP47B 3
  • CLA20 3
  • CPSQ6 3
  • SPG52 3

External Ids for AP4S1 Gene

Previous GeneCards Identifiers for AP4S1 Gene

  • GC14P028870
  • GC14P025282
  • GC14P029484
  • GC14P030564
  • GC14P031494
  • GC14P011612

Summaries for AP4S1 Gene

Entrez Gene Summary for AP4S1 Gene

  • This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

GeneCards Summary for AP4S1 Gene

AP4S1 (Adaptor Related Protein Complex 4 Sigma 1 Subunit) is a Protein Coding gene. Diseases associated with AP4S1 include spastic paraplegia 52, autosomal recessive and severe intellectual disability and progressive spastic paraplegia. Among its related pathways are Lysosome and Vesicle-mediated transport. GO annotations related to this gene include transporter activity and protein transporter activity. An important paralog of this gene is AP1S2.

UniProtKB/Swiss-Prot for AP4S1 Gene

  • Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.

Gene Wiki entry for AP4S1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP4S1 Gene

Genomics for AP4S1 Gene

Regulatory Elements for AP4S1 Gene

Promoters for AP4S1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP4S1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP4S1 Gene

Chromosome:
14
Start:
31,025,106 bp from pter
End:
31,096,450 bp from pter
Size:
71,345 bases
Orientation:
Plus strand

Genomic View for AP4S1 Gene

Genes around AP4S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP4S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP4S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4S1 Gene

Proteins for AP4S1 Gene

  • Protein details for AP4S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y587-AP4S1_HUMAN
    Recommended name:
    AP-4 complex subunit sigma-1
    Protein Accession:
    Q9Y587
    Secondary Accessions:
    • G3V2N8
    • Q6IAQ4
    • Q86U36
    • Q9BVE7

    Protein attributes for AP4S1 Gene

    Size:
    144 amino acids
    Molecular mass:
    17005 Da
    Quaternary structure:
    • Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunitAP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1).

    Alternative splice isoforms for AP4S1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP4S1 Gene

Proteomics data for AP4S1 Gene at MOPED

Post-translational modifications for AP4S1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AP4S1 Gene

Domains & Families for AP4S1 Gene

Protein Domains for AP4S1 Gene

Suggested Antigen Peptide Sequences for AP4S1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y587

UniProtKB/Swiss-Prot:

AP4S1_HUMAN :
  • Belongs to the adaptor complexes small subunit family.
Family:
  • Belongs to the adaptor complexes small subunit family.
genes like me logo Genes that share domains with AP4S1: view

No data available for Gene Families for AP4S1 Gene

Function for AP4S1 Gene

Molecular function for AP4S1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.
genes like me logo Genes that share phenotypes with AP4S1: view

Human Phenotype Ontology for AP4S1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for AP4S1 Gene

Localization for AP4S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP4S1 Gene

Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP4S1 Gene COMPARTMENTS Subcellular localization image for AP4S1 gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AP4S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AP4S1: view

Pathways & Interactions for AP4S1 Gene

genes like me logo Genes that share pathways with AP4S1: view

Pathways by source for AP4S1 Gene

Gene Ontology (GO) - Biological Process for AP4S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with AP4S1: view

No data available for SIGNOR curated interactions for AP4S1 Gene

Drugs & Compounds for AP4S1 Gene

No Compound Related Data Available

Transcripts for AP4S1 Gene

Unigene Clusters for AP4S1 Gene

Adaptor-related protein complex 4, sigma 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP4S1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1:
SP2: -
SP3: - -

Relevant External Links for AP4S1 Gene

GeneLoc Exon Structure for
AP4S1
ECgene alternative splicing isoforms for
AP4S1

Expression for AP4S1 Gene

mRNA expression in normal human tissues for AP4S1 Gene

Protein differential expression in normal tissues from HIPED for AP4S1 Gene

This gene is overexpressed in Pancreas (27.3), Esophagus (15.5), and Breast (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP4S1 Gene



SOURCE GeneReport for Unigene cluster for AP4S1 Gene Hs.293411

mRNA Expression by UniProt/SwissProt for AP4S1 Gene

Q9Y587-AP4S1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with AP4S1: view

Protein tissue co-expression partners for AP4S1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AP4S1 Gene

Orthologs for AP4S1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4S1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP4S1 35
  • 95.14 (n)
  • 97.92 (a)
AP4S1 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP4S1 35
  • 93.29 (n)
  • 97.92 (a)
mouse
(Mus musculus)
Mammalia Ap4s1 35
  • 88.89 (n)
  • 95.83 (a)
Ap4s1 16
Ap4s1 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP4S1 35
  • 100 (n)
  • 100 (a)
AP4S1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4s1 35
  • 88.19 (n)
  • 96.53 (a)
oppossum
(Monodelphis domestica)
Mammalia AP4S1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP4S1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP4S1 35
  • 78.94 (n)
  • 84.72 (a)
AP4S1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4S1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4s1 35
  • 74.31 (n)
  • 77.78 (a)
Str.17786 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.20886 35
zebrafish
(Danio rerio)
Actinopterygii ap4s1 35
  • 71.9 (n)
  • 77.14 (a)
ap4s1 36
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 36
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G19790 35
  • 64.27 (n)
  • 56.83 (a)
rice
(Oryza sativa)
Liliopsida Os10g0368400 35
  • 59.34 (n)
  • 55.32 (a)
Species with no ortholog for AP4S1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP4S1 Gene

ENSEMBL:
Gene Tree for AP4S1 (if available)
TreeFam:
Gene Tree for AP4S1 (if available)

Paralogs for AP4S1 Gene

Paralogs for AP4S1 Gene

Pseudogenes.org Pseudogenes for AP4S1 Gene

genes like me logo Genes that share paralogs with AP4S1: view

Variants for AP4S1 Gene

Sequence variations from dbSNP and Humsavar for AP4S1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs9181 -- 31,093,218(+) TAAAA(C/T)ATGTA utr-variant-3-prime
rs2180610 -- 31,038,014(-) ATTTC(A/G)CAATA intron-variant
rs2016125 -- 31,057,648(-) ACTTC(A/G)TCTCC intron-variant
rs3784156 -- 31,030,869(+) TGCCT(A/G)TTTAA intron-variant
rs3784157 -- 31,033,253(+) CTGTC(A/G)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP4S1 Gene

Variant ID Type Subtype PubMed ID
esv33189 CNV Loss 17666407
nsv901581 CNV Gain 21882294
nsv1233 CNV Insertion 18451855
nsv901587 CNV Loss 21882294
nsv832763 CNV Loss 17160897
esv2664388 CNV Deletion 23128226

Variation tolerance for AP4S1 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP4S1 Gene

HapMap Linkage Disequilibrium report
AP4S1
Human Gene Mutation Database (HGMD)
AP4S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP4S1 Gene

Disorders for AP4S1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AP4S1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 52, autosomal recessive
  • cerebral palsy, spastic quadriplegic 6
severe intellectual disability and progressive spastic paraplegia
  • ap4 deficiency syndrome
spastic paraplegia 52
  • cerebral palsy, spastic quadriplegic, formerly
cerebral palsy
  • mixed cerebral palsy
hypertonia
- elite association - COSMIC cancer census association via MalaCards
Search AP4S1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP4S1_HUMAN
  • Cerebral palsy, spastic quadriplegic 6 (CPSQ6) [MIM:614067]: A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. {ECO:0000269 PubMed:21620353}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AP4S1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP4S1
genes like me logo Genes that share disorders with AP4S1: view

No data available for Genatlas for AP4S1 Gene

Publications for AP4S1 Gene

  1. Adaptor protein complex 4 deficiency causes severe autosomal- recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PMID: 21620353) Abou Jamra R. … Colleaux L. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. Characterization of a fourth adaptor-related protein complex. (PMID: 10436028) Hirst J. … Robinson M.S. (Mol. Biol. Cell 1999) 2 3
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
  5. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PMID: 18624398) Wang J. … He F. (J. Proteome Res. 2008) 3

Products for AP4S1 Gene

Sources for AP4S1 Gene

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