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Aliases for AP1S1 Gene

Aliases for AP1S1 Gene

  • Adaptor Related Protein Complex 1 Subunit Sigma 1 2 3
  • Clathrin Assembly Protein Complex 1 Sigma-1A Small Chain 2 3 4
  • Adaptor Related Protein Complex 1 Sigma 1 Subunit 2 3 5
  • Golgi Adaptor HA1/AP1 Adaptin Sigma-1A Subunit 2 3 4
  • Clathrin Coat Assembly Protein AP19 2 3 4
  • HA1 19 KDa Subunit 2 3 4
  • Sigma1A-Adaptin 2 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Small 1 (19kD) 2 3
  • Adaptor-Related Protein Complex 1 Subunit Sigma-1A 3 4
  • Sigma1A Subunit Of AP-1 Clathrin Adaptor Complex 2 3
  • Adaptor Protein Complex AP-1 Subunit Sigma-1A 3 4
  • AP-1 Complex Subunit Sigma-1A 2 3
  • CLAPS1 3 4
  • AP19 3 4
  • Adapter-Related Protein Complex 1 Sigma-1A Subunit 3
  • Erythrokeratodermia Variabilis 3 (Kamouraska Type) 2
  • Sigma 1a Subunit Of AP-1 Clathrin 4
  • Sigma-Adaptin 1A 4
  • SIGMA1A 3
  • MEDNIK 3
  • EKV3 3

External Ids for AP1S1 Gene

Previous HGNC Symbols for AP1S1 Gene

  • CLAPS1
  • EKV3

Previous GeneCards Identifiers for AP1S1 Gene

  • GC07P099281
  • GC07P100344
  • GC07P100357
  • GC07P100391
  • GC07P100584
  • GC07P100797
  • GC07P095390

Summaries for AP1S1 Gene

Entrez Gene Summary for AP1S1 Gene

  • The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

GeneCards Summary for AP1S1 Gene

AP1S1 (Adaptor Related Protein Complex 1 Subunit Sigma 1) is a Protein Coding gene. Diseases associated with AP1S1 include Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma and Pettigrew Syndrome. Among its related pathways are Clathrin derived vesicle budding and CTLA4 Signaling. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S2.

UniProtKB/Swiss-Prot for AP1S1 Gene

  • Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Gene Wiki entry for AP1S1 Gene

Additional gene information for AP1S1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP1S1 Gene

Genomics for AP1S1 Gene

GeneHancer (GH) Regulatory Elements for AP1S1 Gene

Promoters and enhancers for AP1S1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J101153 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 689.1 +1.4 1374 3.9 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 AP1S1 NAT16 GIGYF1 SRRT STAG3L5P SERPINE1 PCOLCE PPP1R35 PILRB FIS1
GH07J101165 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.6 +12.1 12127 2.7 PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 VGF GIGYF1 SRRT AP1S1 NAT16 PCOLCE-AS1 MEPCE STAG3L5P PPP1R35 MOSPD3
GH07J101192 Enhancer 1.4 Ensembl ENCODE dbSUPER 32.1 +38.2 38187 1.2 HDGF ATF1 ARNT ARID4B IRF4 ZNF48 YY1 ARID2 ZNF143 ATF7 AP1S1 PLOD3 ZNHIT1 VGF NAT16
GH07J101199 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11 +46.9 46936 2.8 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 ZNF121 MOGAT3 AP1S1 NAT16 MOSPD3 DGAT2L7P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP1S1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AP1S1 gene promoter:
  • HTF
  • Olf-1
  • Egr-4
  • USF1
  • USF-1
  • CUTL1
  • RORalpha2
  • STAT3
  • Hlf
  • MIF-1

Genomic Locations for AP1S1 Gene

Genomic Locations for AP1S1 Gene
7,197 bases
Plus strand
7,200 bases
Plus strand

Genomic View for AP1S1 Gene

Genes around AP1S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP1S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP1S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP1S1 Gene

Proteins for AP1S1 Gene

  • Protein details for AP1S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    AP-1 complex subunit sigma-1A
    Protein Accession:
    Secondary Accessions:
    • B2R5D8
    • P82267
    • Q00382
    • Q53YA7
    • Q9BTN4
    • Q9UDW9

    Protein attributes for AP1S1 Gene

    158 amino acids
    Molecular mass:
    18733 Da
    Quaternary structure:
    • Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).
    • Sequence=AAD45829.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AP1S1 Gene

    Alternative splice isoforms for AP1S1 Gene


neXtProt entry for AP1S1 Gene

Post-translational modifications for AP1S1 Gene

  • Ubiquitination at Lys133 and posLast=1818
  • Modification sites at PhosphoSitePlus

Other Protein References for AP1S1 Gene

No data available for DME Specific Peptides for AP1S1 Gene

Domains & Families for AP1S1 Gene

Gene Families for AP1S1 Gene

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

Suggested Antigen Peptide Sequences for AP1S1 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 AP1S1: view

Function for AP1S1 Gene

Molecular function for AP1S1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to enterovirus 71 (EV71) infection.

Phenotypes From GWAS Catalog for AP1S1 Gene

Gene Ontology (GO) - Molecular Function for AP1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17353931
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP1S1: view
genes like me logo Genes that share phenotypes with AP1S1: view

Human Phenotype Ontology for AP1S1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for AP1S1 Gene

miRTarBase miRNAs that target AP1S1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AP1S1 Gene

Localization for AP1S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP1S1 Gene

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

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 AP1S1 gene
Compartment Confidence
extracellular 5
cytosol 5
golgi apparatus 5
lysosome 4
mitochondrion 2
endosome 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AP1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005829 cytosol TAS --
GO:0005905 clathrin-coated pit IEA --
genes like me logo Genes that share ontologies with AP1S1: view

Pathways & Interactions for AP1S1 Gene

genes like me logo Genes that share pathways with AP1S1: view

Pathways by source for AP1S1 Gene

1 GeneGo (Thomson Reuters) pathway for AP1S1 Gene
1 Qiagen pathway for AP1S1 Gene

Gene Ontology (GO) - Biological Process for AP1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006898 receptor-mediated endocytosis TAS 9733768
GO:0009615 response to virus IEP 16548883
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with AP1S1: view

No data available for SIGNOR curated interactions for AP1S1 Gene

Drugs & Compounds for AP1S1 Gene

No Compound Related Data Available

Transcripts for AP1S1 Gene

mRNA/cDNA for AP1S1 Gene

Unigene Clusters for AP1S1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP1S1 Gene

No ASD Table

Relevant External Links for AP1S1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AP1S1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP1S1 Gene

Protein differential expression in normal tissues from HIPED for AP1S1 Gene

This gene is overexpressed in Bone (8.4), Peripheral blood mononuclear cells (8.4), and Salivary gland (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP1S1 Gene

Protein tissue co-expression partners for AP1S1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP1S1 Gene:


SOURCE GeneReport for Unigene cluster for AP1S1 Gene:


mRNA Expression by UniProt/SwissProt for AP1S1 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for AP1S1 Gene

  • Nervous system(4.6)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP1S1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • salivary gland
  • skull
  • breast
  • esophagus
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with AP1S1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AP1S1 Gene

Orthologs for AP1S1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP1S1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AP1S1 34 33
  • 98.95 (n)
(Ornithorhynchus anatinus)
Mammalia AP1S1 34
  • 98 (a)
(Bos Taurus)
Mammalia AP1S1 34 33
  • 93.42 (n)
(Canis familiaris)
Mammalia AP1S1 34 33
  • 92.83 (n)
(Mus musculus)
Mammalia Ap1s1 16 34 33
  • 90.72 (n)
(Rattus norvegicus)
Mammalia Ap1s1 33
  • 90.72 (n)
(Monodelphis domestica)
Mammalia AP1S1 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1s1 33
  • 78.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Ap1s1 33
(Danio rerio)
Actinopterygii ap1s1 34
  • 92 (a)
zgc:162858 33
  • 80.75 (n)
hmzewp0159 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13302 33
fruit fly
(Drosophila melanogaster)
Insecta AP-1&sgr; 35
  • 77 (a)
AP-1sigma 34
  • 76 (a)
(Caenorhabditis elegans)
Secernentea aps-1 34
  • 75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 34
  • 51 (a)
(Triticum aestivum)
Liliopsida Ta.7732 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3488 34
  • 70 (a)
Species where no ortholog for AP1S1 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)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AP1S1 Gene

Gene Tree for AP1S1 (if available)
Gene Tree for AP1S1 (if available)
Evolutionary constrained regions (ECRs) for AP1S1: view image

Paralogs for AP1S1 Gene

Paralogs for AP1S1 Gene

(8) SIMAP similar genes for AP1S1 Gene using alignment to 2 proteins:

  • H7C1E4_HUMAN
genes like me logo Genes that share paralogs with AP1S1: view

Variants for AP1S1 Gene

Sequence variations from dbSNP and Humsavar for AP1S1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000169903 -- 101,160,375(+) C/A/T intron_variant
rs1000347099 -- 101,156,290(+) A/G intron_variant
rs1000376645 -- 101,161,587(+) C/T downstream_transcript_variant
rs1000575810 -- 101,156,287(+) T/A intron_variant
rs1001940078 -- 101,158,763(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AP1S1 Gene

Variant ID Type Subtype PubMed ID
dgv11534n54 CNV loss 21841781
esv2422376 CNV duplication 17116639
esv2734888 CNV deletion 23290073
esv2752134 CNV gain 17911159
nsv1018841 CNV gain 25217958
nsv1030604 CNV gain 25217958
nsv607972 CNV loss 21841781
nsv607973 CNV loss 21841781
nsv607974 CNV loss 21841781
nsv831075 CNV loss 17160897

Variation tolerance for AP1S1 Gene

Residual Variation Intolerance Score: 42.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AP1S1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP1S1 Gene

Disorders for AP1S1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AP1S1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AP1S1 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) [MIM:609313]: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. {ECO:0000269 PubMed:19057675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AP1S1

genes like me logo Genes that share disorders with AP1S1: view

No data available for Genatlas for AP1S1 Gene

Publications for AP1S1 Gene

  1. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. (PMID: 19057675) Montpetit A … Cossette P (PLoS genetics 2008) 2 3 4 58
  2. Identification and characterization of novel clathrin adaptor-related proteins. (PMID: 9733768) Takatsu H … Nakayama K (The Journal of biological chemistry 1998) 2 3 4 58
  3. Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PMID: 16548883) Leong WF … Chow VT (Cellular microbiology 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for AP1S1 Gene

Sources for AP1S1 Gene

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