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Aliases for AP4S1 Gene

Aliases for AP4S1 Gene

  • Adaptor Related Protein Complex 4 Sigma 1 Subunit 2 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
  • Adaptor-Related Protein Complex 4, Sigma 1 Subunit 2
  • 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
  • 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 Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include transporter activity and protein transporter activity. An important paralog of this gene is AP1S1.

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

Additional gene information for AP4S1 Gene

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

Genomics for AP4S1 Gene

Regulatory Elements for AP4S1 Gene

Enhancers for AP4S1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H031056 1.3 Ensembl ENCODE 12.9 +34.1 34053 4.7 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 ELK1 ATF7 MCM3 STRN3 AP4S1 MIR624 HEATR5A RPL21P5
GH14H030980 1.1 Ensembl ENCODE 12.2 -44.7 -44706 0.8 ARID4B SIN3A RAD21 RFX5 EGR1 ZNF143 MIXL1 THAP11 ZNF654 ZNF362 MIR624 AP4S1 RNU6-541P STRN3 HIGD1AP17
GH14H030994 1 Ensembl ENCODE 12.3 -28.4 -28390 5.1 PKNOX1 JUN BMI1 FEZF1 BATF DNMT3B FOSL1 ZNF121 POLR2A RUNX3 STRN3 AP4S1 RNU6-541P DTD2 MIR624 HIGD1AP17
GH14H031082 0.9 ENCODE 12.4 +57.1 57084 0.2 ELF3 FOXA2 MLX ARID4B THRB RAD21 RARA SLC30A9 ZNF143 MIXL1 AP4S1 MIR624 RPL21P5 STRN3
GH14H030966 0.6 ENCODE 17.9 -58.3 -58302 0.6 ETV1 ZNF7 TEAD3 JUND MIER3 ZNF207 HMBOX1 NFE2 ZBTB26 SETDB1 AP4S1 MIR624 RNU6-541P STRN3 HIGD1AP17
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP4S1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for AP4S1 Gene

Genomic Locations for AP4S1 Gene
71,345 bases
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:
    Recommended name:
    AP-4 complex subunit sigma-1
    Protein Accession:
    Secondary Accessions:
    • G3V2N8
    • Q6IAQ4
    • Q86U36
    • Q9BVE7

    Protein attributes for AP4S1 Gene

    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


neXtProt entry for AP4S1 Gene

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

Gene Families for AP4S1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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



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

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
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP4S1 gene
Compartment Confidence
golgi apparatus 5
endosome 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AP4S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0031904 endosome lumen TAS --
GO:0032588 trans-Golgi network membrane TAS --
genes like me logo Genes that share ontologies with AP4S1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP4S1 Gene

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:0006810 transport IEA --
GO:0015031 protein transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

Relevant External Links for AP4S1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AP4S1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AP4S1 Gene

Protein tissue co-expression partners for AP4S1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP4S1 Gene:


SOURCE GeneReport for Unigene cluster for AP4S1 Gene:


mRNA Expression by UniProt/SwissProt for AP4S1 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for AP4S1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP4S1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AP4S1: view

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
(Pan troglodytes)
Mammalia AP4S1 34 33
  • 100 (n)
(Bos Taurus)
Mammalia AP4S1 34 33
  • 95.14 (n)
(Canis familiaris)
Mammalia AP4S1 33
  • 93.29 (n)
(Mus musculus)
Mammalia Ap4s1 34 16 33
  • 88.89 (n)
(Rattus norvegicus)
Mammalia Ap4s1 33
  • 88.19 (n)
(Monodelphis domestica)
Mammalia AP4S1 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia AP4S1 34
  • 66 (a)
(Gallus gallus)
Aves AP4S1 33 34
  • 78.94 (n)
(Anolis carolinensis)
Reptilia AP4S1 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4s1 33
  • 74.31 (n)
Str.17786 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20886 33
(Danio rerio)
Actinopterygii ap4s1 34 33
  • 71.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 34
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G19790 33
  • 64.27 (n)
(Oryza sativa)
Liliopsida Os10g0368400 33
  • 59.34 (n)
Species where no ortholog for AP4S1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for AP4S1 (if available)
Gene Tree for AP4S1 (if available)

Paralogs for AP4S1 Gene

Paralogs for AP4S1 Gene 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
rs200440467 Pathogenic 31,072,968(+) TCAGC(C/T)GAGTG reference, stop-gained
rs387906970 Pathogenic 31,066,320(+) TCTCT(A/C/G/T)GATCC reference, synonymous-codon
rs876661295 Pathogenic 31,066,337(+) CAAGT(-/AAGT)CTCTG intron-variant
rs886041127 Pathogenic 31,072,974(+) GAGTG(G/T)TAAGT splice-donor-variant
rs762925365 Likely benign 31,080,632(+) CACTC(C/T)GGTCC intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv832763 CNV loss 17160897
nsv564169 CNV gain 21841781
nsv1233 CNV insertion 18451855
nsv1127377 CNV deletion 24896259
nsv1050054 CNV gain 25217958
nsv1049063 CNV gain 25217958
nsv1043033 CNV gain 25217958
esv3892495 CNV gain 25118596
esv3584215 CNV gain 25503493
esv33189 CNV loss 17666407
esv2664388 CNV deletion 23128226
dgv124e215 CNV deletion 23714750

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for AP4S1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spastic paraplegia 52, autosomal recessive
  • hereditary spastic paraplegia 52
severe intellectual disability and progressive spastic paraplegia
  • ap4 deficiency syndrome
spastic paraplegia 52
  • cerebral palsy, spastic quadriplegic, formerly
hereditary spastic paraplegia 51
  • autosomal dominant spastic paraplegia 51
cerebral palsy
  • infantile cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search AP4S1 in MalaCards View complete list of genes associated with diseases


  • Spastic paraplegia 52, autosomal recessive (SPG52) [MIM:614067]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Some patients may have seizures. {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:
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 (American journal of human genetics 2011) 2 3 4 60
  2. Characterization of a fourth adaptor-related protein complex. (PMID: 10436028) Hirst J … Robinson MS (Molecular biology of the cell 1999) 2 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. (PMID: 25552650) Hardies K … Hirst J (Human molecular genetics 2015) 3 60

Products for AP4S1 Gene

Sources for AP4S1 Gene

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