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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 Subunit Sigma-1 3 4
  • AP-4 Adaptor Complex Subunit Sigma-1 3 4
  • Sigma-4-Adaptin 3 4
  • CPSQ6 3 6
  • SPG52 3 6
  • Clathrin-Associated/Assembly/Adaptor Protein, Sigma 4 3
  • AP-4 Adapter Complex Subunit Sigma-1 3
  • AP-4 Complex Subunit Sigma-1 3
  • Sigma-1 Subunit Of AP-4 4
  • Sigma4-Adaptin 4
  • CLAPS4 3
  • AP47B 3
  • CLA20 3

External Ids for AP4S1 Gene

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 spastic paraplegia 51. Among its related pathways are Lysosome. 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

Genomic Location for AP4S1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP4S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4S1 Gene

Regulatory Elements 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 for AP4S1 Gene

Protein Domains for AP4S1 Gene

UniProtKB/Swiss-Prot:

AP4S1_HUMAN
Family:
  • Belongs to the adaptor complexes small subunit family.:
    • Q9Y587
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

Gene Ontology (GO) - Molecular Function for AP4S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10436028
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP4S1: view

Phenotypes for AP4S1 Gene

GenomeRNAi human phenotypes for AP4S1:
genes like me logo Genes that share phenotypes with AP4S1: view

miRNA for AP4S1 Gene

miRTarBase miRNAs that target AP4S1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
golgi apparatus 3
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:0005794 Golgi apparatus --
GO:0005905 coated pit IEA --
GO:0016020 membrane --
GO:0031904 endosome lumen TAS --
GO:0032588 trans-Golgi network membrane TAS --
genes like me logo Genes that share ontologies with AP4S1: view

Pathways for AP4S1 Gene

SuperPathways for AP4S1 Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with AP4S1: view

Pathways by source for AP4S1 Gene

1 KEGG pathway for AP4S1 Gene

Gene Ontology (GO) - Biological Process for AP4S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0015031 protein transport IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with AP4S1: view

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

Integrated Proteomics: protein expression 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 expressions with AP4S1: view

Orthologs for AP4S1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4S1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP4S1 36
  • 100 (n)
  • 100 (a)
AP4S1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP4S1 36
  • 95.14 (n)
  • 97.92 (a)
AP4S1 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP4S1 36
  • 93.29 (n)
  • 97.92 (a)
mouse
(Mus musculus)
Mammalia Ap4s1 36
  • 88.89 (n)
  • 95.83 (a)
Ap4s1 16
Ap4s1 37
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP4S1 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP4S1 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4s1 36
  • 88.19 (n)
  • 96.53 (a)
chicken
(Gallus gallus)
Aves AP4S1 36
  • 78.94 (n)
  • 84.72 (a)
AP4S1 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP4S1 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20886 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4s1 36
  • 74.31 (n)
  • 77.78 (a)
Str.17786 36
zebrafish
(Danio rerio)
Actinopterygii ap4s1 36
  • 71.9 (n)
  • 77.14 (a)
ap4s1 37
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 37
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G19790 36
  • 64.27 (n)
  • 56.83 (a)
rice
(Oryza sativa)
Liliopsida Os10g0368400 36
  • 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

Selected SIMAP similar genes for AP4S1 Gene using alignment to 6 proteins:

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 MAF
rs9181 -- 31,093,218(+) TAAAA(C/T)ATGTA utr-variant-3-prime
rs2016125 -- 31,057,648(-) ACTTC(A/G)TCTCC intron-variant
rs2064823 -- 31,034,687(-) tgagc(C/T)gagac intron-variant
rs2064824 -- 31,033,459(-) tgagg(C/T)gggtg intron-variant
rs2180610 -- 31,038,014(-) ATTTC(A/G)CAATA 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

Relevant External Links for AP4S1 Gene

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

Disorders for AP4S1 Gene

(1) OMIM Diseases for AP4S1 Gene (607243)

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.
genes like me logo Genes that share disorders with AP4S1: view

Publications for AP4S1 Gene

  1. Characterization of a fourth adaptor-related protein complex. (PMID: 10436028) Hirst J. … Robinson M.S. (Mol. Biol. Cell 1999) 2 3 4
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Large-scale analysis of the human ubiquitin-related proteome. (PMID: 16196087) Matsumoto M. … Nakayama K.I. (Proteomics 2005) 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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