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Aliases for AP1S1 Gene

Aliases for AP1S1 Gene

  • Adaptor Related Protein Complex 1 Sigma 1 Subunit 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
  • 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
  • Erythrokeratodermia Variabilis 3 (Kamouraska Type) 2
  • Adaptor-Related Protein Complex 1, Sigma 1 Subunit 2
  • Adapter-Related Protein Complex 1 Sigma-1A Subunit 3
  • Adaptor-Related Protein Complex 1 Sigma 1 Subunit 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 Sigma 1 Subunit) is a Protein Coding gene. Diseases associated with AP1S1 include Mednik Syndrome and Ichthyosis, X-Linked. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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

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

Genomics for AP1S1 Gene

Regulatory Elements for AP1S1 Gene

Enhancers for AP1S1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around AP1S1 on UCSC Golden Path with GeneCards custom track

Promoters for AP1S1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for AP1S1 Gene

Chromosome:
7
Start:
101,154,397 bp from pter
End:
101,161,596 bp from pter
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 Lys 18 and Lys 133
  • Modification sites at PhosphoSitePlus

Other Protein References for AP1S1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AP1S1 Gene

Domains & Families for AP1S1 Gene

Suggested Antigen Peptide Sequences for AP1S1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for AP1S1 Gene

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.

Gene Ontology (GO) - Molecular Function for AP1S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for AP1S1 Gene COMPARTMENTS Subcellular localization image for AP1S1 gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
lysosome 4
vacuole 4
mitochondrion 2
plasma membrane 2
endosome 1
nucleus 1

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 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:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0042147 retrograde transport, endosome to Golgi 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with AP1S1: view

Primer Products

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
cow
(Bos Taurus)
Mammalia AP1S1 34
  • 93.42 (n)
  • 100 (a)
AP1S1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP1S1 34
  • 92.83 (n)
  • 100 (a)
AP1S1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap1s1 34
  • 90.72 (n)
  • 100 (a)
Ap1s1 16
Ap1s1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP1S1 34
  • 98.95 (n)
  • 100 (a)
AP1S1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap1s1 34
  • 90.72 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia AP1S1 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP1S1 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1s1 34
  • 78.77 (n)
  • 87.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia Ap1s1 34
zebrafish
(Danio rerio)
Actinopterygii hmzewp0159 34
zgc:162858 34
  • 80.75 (n)
  • 86.62 (a)
ap1s1 35
  • 92 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13302 34
fruit fly
(Drosophila melanogaster)
Insecta AP-1sgr 36
  • 77 (a)
AP-1sigma 35
  • 76 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aps-1 35
  • 75 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 35
  • 51 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.7732 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3488 35
  • 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)

Paralogs for AP1S1 Gene

Paralogs for AP1S1 Gene

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

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 Sequence Context AA Info Type
rs2158611 -- 101,161,450(+) ACACA(C/T)TTAAC downstream-variant-500B
rs2239537 -- 101,155,330(+) TGGGG(G/T)AAGGA intron-variant
rs2239538 -- 101,155,447(+) CTGCA(A/G)ACATT intron-variant
rs10237161 -- 101,157,201(+) CTTTG(C/G)ATGTT intron-variant
rs4196 -- 101,160,968(-) GGGAG(-/GGTGGA)GGTGG utr-variant-3-prime

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)

Relevant External Links for AP1S1 Gene

Human Gene Mutation Database (HGMD)
AP1S1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP1S1

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

Disorders for AP1S1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AP1S1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mednik syndrome
  • mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
ichthyosis, x-linked
  • x-linked ichthyosis
- elite association - COSMIC cancer census association via MalaCards
Search AP1S1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AP1S1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Genet. 2008) 2 3 4 65
  2. Identification and characterization of novel clathrin adaptor-related proteins. (PMID: 9733768) Takatsu H. … Nakayama K. (J. Biol. Chem. 1998) 2 3 4 65
  3. Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PMID: 16548883) Leong W.F. … Chow V.T. (Cell. Microbiol. 2006) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 65

Products for AP1S1 Gene

Sources for AP1S1 Gene

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