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, ... See more...

Aliases for AP1S1 Gene

Aliases for AP1S1 Gene

  • Adaptor Related Protein Complex 1 Subunit Sigma 1 2 3 5
  • Clathrin Assembly Protein Complex 1 Sigma-1A Small Chain 2 3 4
  • Golgi Adaptor HA1/AP1 Adaptin Sigma-1A Subunit 2 3 4
  • Clathrin Coat Assembly Protein AP19 2 3 4
  • AP-1 Complex Subunit Sigma-1A 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
  • Adaptor Related Protein Complex 1 Sigma 1 Subunit 2 3
  • Sigma1A Subunit Of AP-1 Clathrin Adaptor Complex 2 3
  • Adaptor Protein Complex AP-1 Subunit Sigma-1A 3 4
  • 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 Vesicle-mediated transport and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 789 +1.4 1359 3.9 SIN3A ZBTB40 HLF RBM39 L3MBTL2 ZNF121 MNT POLR2A MTA3 ZNF148 AP1S1 GIGYF1 SRRT NAT16 STAG3L5P SERPINE1 PCOLCE PPP1R35 PILRB FIS1
GH07J101154 Promoter 0.4 Ensembl 750.6 -0.9 -904 0.2 ZNF121 AP1S1 NAT16 piR-52261-254 RF00017-6494
GH07J101159 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 37.3 +9.1 9130 8.4 ZNF785 SIN3A ZNF24 ZBTB40 SP1 SREBF1 ZBTB6 MLX RBPJ POLR2A VGF GIGYF1 SRRT PPP1R35 AP1S1 STAG3L5P NAT16 MEPCE PCOLCE-AS1 ZCWPW1
GH07J101192 Enhancer 1.1 ENCODE dbSUPER 32.1 +38.2 38182 1.2 ZBTB40 CTCF RBPJ SMARCE1 MIXL1 ZNF362 CC2D1A L3MBTL2 MAX RAD21 AP1S1 MEPCE ZNHIT1 PLOD3 VGF SRRT PPP1R35 FBXO24 PMS2P1 ZCWPW1
GH07J101173 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 14.4 +19.4 19359 1.8 SP1 ZBTB6 ELF1 L3MBTL2 ZNF121 NFIB GTF2F1 ZSCAN21 CDC5L KLF14 GIGYF1 SRRT STAG3L5P NAT16 AP1S1 PCOLCE GNB2 PPP1R35 PCOLCE-AS1 PILRB
- 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:
  • CUTL1
  • Egr-4
  • Hlf
  • HTF
  • MIF-1
  • Olf-1
  • RORalpha2
  • STAT3
  • USF-1
  • USF1

Genomic Locations for AP1S1 Gene

Genomic Locations for AP1S1 Gene
chr7:101,154,405-101,161,596
(GRCh38/hg38)
Size:
7,192 bases
Orientation:
Plus strand
chr7:100,797,678-100,804,877
(GRCh37/hg19)
Size:
7,200 bases
Orientation:
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:
    P61966-AP1S1_HUMAN
    Recommended name:
    AP-1 complex subunit sigma-1A
    Protein Accession:
    P61966
    Secondary Accessions:
    • B2R5D8
    • P82267
    • Q00382
    • Q53YA7
    • Q9BTN4
    • Q9UDW9

    Protein attributes for AP1S1 Gene

    Size:
    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).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for AP1S1 Gene

Post-translational modifications for AP1S1 Gene

  • Ubiquitination at Lys18 and Lys133
  • 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

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

Suggested Antigen Peptide Sequences for AP1S1 Gene

GenScript: Design optimal peptide antigens:
  • Sigma1A-adaptin (AP1S1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61966

UniProtKB/Swiss-Prot:

AP1S1_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 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

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

CRISPR Products

miRNA for AP1S1 Gene

miRTarBase miRNAs that target AP1S1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
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
golgi apparatus 5
cytosol 4
lysosome 4
plasma membrane 1
mitochondrion 1
nucleus 1
endosome 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
  • CTLA4 Signaling

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,IBA 21873635
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

CRISPR Products

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
AP1S1
ECgene alternative splicing isoforms for
AP1S1

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:

AP1S1

SOURCE GeneReport for Unigene cluster for AP1S1 Gene:

Hs.489365

mRNA Expression by UniProt/SwissProt for AP1S1 Gene:

P61966-AP1S1_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • salivary gland
  • skull
Thorax:
  • breast
  • esophagus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia AP1S1 33 32
  • 98.95 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP1S1 33
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP1S1 33 32
  • 93.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AP1S1 33 32
  • 92.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ap1s1 17 33 32
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Ap1s1 32
  • 90.72 (n)
oppossum
(Monodelphis domestica)
Mammalia AP1S1 33
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1s1 32
  • 78.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Ap1s1 32
zebrafish
(Danio rerio)
Actinopterygii ap1s1 33
  • 92 (a)
OneToOne
zgc:162858 32
  • 80.75 (n)
hmzewp0159 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13302 32
fruit fly
(Drosophila melanogaster)
Insecta AP-1&sgr; 34
  • 77 (a)
AP-1sigma 33
  • 76 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aps-1 33
  • 75 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 33
  • 51 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.7732 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3488 33
  • 70 (a)
OneToMany
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

ENSEMBL:
Gene Tree for AP1S1 (if available)
TreeFam:
Gene Tree for AP1S1 (if available)
Aminode:
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:

  • AP1S1_HUMAN
  • 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
rs751430853 pathogenic, Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 101,157,375(+) A/G splice_acceptor_variant
rs981747624 pathogenic, not provided 101,157,380(+) T/C/G coding_sequence_variant, stop_gained, synonymous_variant
rs767358930 likely-pathogenic, not provided 101,159,124(+) GGGGGGGG/GGGGGGG/GGGGGGGGG coding_sequence_variant, frameshift
rs1000169903 -- 101,160,375(+) C/A/T intron_variant
rs1000347099 -- 101,156,290(+) A/G 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)
AP1S1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP1S1

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

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

UniProtKB/Swiss-Prot

AP1S1_HUMAN
  • 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 56
  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 56
  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 56
  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 56
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 56

Products for AP1S1 Gene

Sources for AP1S1 Gene