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Aliases for AP1S2 Gene

Aliases for AP1S2 Gene

  • Adaptor-Related Protein Complex 1, Sigma 2 Subunit 2 3
  • Clathrin Assembly Protein Complex 1 Sigma-1B Small Chain 3 4
  • Adaptor-Related Protein Complex 1 Subunit Sigma-1B 3 4
  • Golgi Adaptor HA1/AP1 Adaptin Sigma-1B Subunit 3 4
  • Sigma1B-Adaptin 3 4
  • MRXS21 3 6
  • MRXSF 3 6
  • MRX59 3 6
  • Adapter-Related Protein Complex 1 Sigma-1B Subunit 3
  • Pettigrew X-Linked Mental Retardation Syndrome 2
  • Adaptor Protein Complex AP-1 Sigma-1B Subunit 3
  • Clathrin Adaptor Complex AP1 Sigma 1B Subunit 3
  • Adaptor Protein Complex AP-1 Subunit Sigma-1B 4
  • Mental Retardation, X-Linked, Syndromic 5 2
  • Sigma 1B Subunit Of AP-1 Clathrin 4
  • Mental Retardation, X-Linked 59 2
  • AP-1 Complex Subunit Sigma-2 3
  • Sigma-Adaptin 1B 4
  • SIGMA1B 3
  • MRXS5 3
  • DC22 3
  • PGS 3

External Ids for AP1S2 Gene

Previous Symbols for AP1S2 Gene

  • MRX59
  • MRXS5
  • PGS

Summaries for AP1S2 Gene

Entrez Gene Summary for AP1S2 Gene

  • Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for AP1S2 Gene

AP1S2 (Adaptor-Related Protein Complex 1, Sigma 2 Subunit) is a Protein Coding gene. Diseases associated with AP1S2 include dandy-walker malformation with intellectual disability, basal ganglia disease and seizures and fried syndrome. Among its related pathways are Disease and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is AP1S1.

UniProtKB/Swiss-Prot for AP1S2 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 AP1S2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP1S2 Gene

Genomics for AP1S2 Gene

Genomic Location for AP1S2 Gene

Start:
15,825,806 bp from pter
End:
15,855,014 bp from pter
Size:
29,209 bases
Orientation:
Minus strand

Genomic View for AP1S2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP1S2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP1S2 Gene

Regulatory Elements for AP1S2 Gene

Proteins for AP1S2 Gene

  • Protein details for AP1S2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56377-AP1S2_HUMAN
    Recommended name:
    AP-1 complex subunit sigma-2
    Protein Accession:
    P56377
    Secondary Accessions:
    • B4DSU4
    • O95326
    • Q9H2N6

    Protein attributes for AP1S2 Gene

    Size:
    157 amino acids
    Molecular mass:
    18615 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). Binds to MUC1
    SequenceCaution:
    • Sequence=AAG44595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AP1S2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP1S2 Gene

Proteomics data for AP1S2 Gene at MOPED

Post-translational modifications for AP1S2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys17

Other Protein References for AP1S2 Gene

No data available for DME Specific Peptides for AP1S2 Gene

Domains for AP1S2 Gene

UniProtKB/Swiss-Prot:

AP1S2_HUMAN
Family:
  • Belongs to the adaptor complexes small subunit family.:
    • P56377
genes like me logo Genes that share domains with AP1S2: view

No data available for Gene Families for AP1S2 Gene

Function for AP1S2 Gene

Molecular function for AP1S2 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

Gene Ontology (GO) - Molecular Function for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP1S2: view

miRNA for AP1S2 Gene

miRTarBase miRNAs that target AP1S2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AP1S2 Gene

Localization for AP1S2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP1S2 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 AP1S2 Gene COMPARTMENTS Subcellular localization image for AP1S2 gene
Compartment Confidence
golgi apparatus 5
cytosol 4
lysosome 4
vacuole 4
extracellular 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol TAS --
GO:0005905 coated pit IEA --
GO:0030117 membrane coat --
genes like me logo Genes that share ontologies with AP1S2: view

Pathways for AP1S2 Gene

genes like me logo Genes that share pathways with AP1S2: view

Pathways by source for AP1S2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for AP1S2 Gene
1 Qiagen pathway for AP1S2 Gene

Gene Ontology (GO) - Biological Process for AP1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006886 intracellular protein transport IEA --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0015031 protein transport --
GO:0016032 viral process TAS --
genes like me logo Genes that share ontologies with AP1S2: view

Transcripts for AP1S2 Gene

Unigene Clusters for AP1S2 Gene

Adaptor-related protein complex 1, sigma 2 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP1S2 Gene

No ASD Table

Relevant External Links for AP1S2 Gene

GeneLoc Exon Structure for
AP1S2
ECgene alternative splicing isoforms for
AP1S2

Expression for AP1S2 Gene

mRNA expression in normal human tissues for AP1S2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP1S2 Gene

SOURCE GeneReport for Unigene cluster for AP1S2 Gene Hs.121592

mRNA Expression by UniProt/SwissProt for AP1S2 Gene

P56377-AP1S2_HUMAN
Tissue specificity: Widely expressed
genes like me logo Genes that share expressions with AP1S2: view

Orthologs for AP1S2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP1S2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP1S2 36
  • 99.79 (n)
  • 100 (a)
AP1S2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP1S2 36
  • 96.18 (n)
  • 100 (a)
AP1S2 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP1S2 36
  • 97.88 (n)
  • 100 (a)
AP1S2 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap1s2 36
  • 93.38 (n)
  • 98.63 (a)
Ap1s2 16
Ap1s2 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP1S2 37
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP1S2 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap1s2 36
  • 95.12 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves AP1S2 36
  • 86.62 (n)
  • 99.36 (a)
AP1S2 37
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP1S2 37
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1s2 36
  • 81.95 (n)
  • 100 (a)
zebrafish
(Danio rerio)
Actinopterygii ap1s2 36
  • 77.92 (n)
  • 92.36 (a)
ap1s2 37
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004283 36
  • 70.75 (n)
  • 80.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta AP-1sigma 36
  • 69.03 (n)
  • 82.58 (a)
AP-1sigma 37
  • 82 (a)
OneToMany
AP-1sgr 38
  • 81 (a)
worm
(Caenorhabditis elegans)
Secernentea aps-1 36
  • 65.59 (n)
  • 80 (a)
aps-1 37
  • 78 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR124W 36
  • 55.85 (n)
  • 56.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS1 36
  • 57.88 (n)
  • 54.73 (a)
APS1 37
  • 52 (a)
OneToMany
APS1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22814g 36
  • 54.5 (n)
  • 56.76 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1540 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G35410 36
  • 58.66 (n)
  • 59.74 (a)
corn
(Zea mays)
Liliopsida Zm.5866 36
rice
(Oryza sativa)
Liliopsida Os03g0783700 36
  • 60.17 (n)
  • 58.44 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10618 36
  • 58.4 (n)
  • 63.57 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vas2 36
  • 60.57 (n)
  • 57.52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.268 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3488 37
  • 70 (a)
OneToMany
Species with no ortholog for AP1S2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)

Evolution for AP1S2 Gene

ENSEMBL:
Gene Tree for AP1S2 (if available)
TreeFam:
Gene Tree for AP1S2 (if available)

Paralogs for AP1S2 Gene

Paralogs for AP1S2 Gene

Selected SIMAP similar genes for AP1S2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for AP1S2 Gene

genes like me logo Genes that share paralogs with AP1S2: view

Variants for AP1S2 Gene

Sequence variations from dbSNP and Humsavar for AP1S2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs3652 -- 15,826,126(+) CTCAC(A/G)TGGCC utr-variant-3-prime, nc-transcript-variant
rs764990 -- 15,829,764(+) GAAAC(A/G)GAAAG intron-variant, downstream-variant-500B
rs798166 -- 15,842,711(+) TCTCT(C/T)TGCAC intron-variant
rs798167 -- 15,842,794(+) gaggc(C/T)gaggt intron-variant
rs798168 -- 15,845,173(+) ACCGA(C/T)AGACC intron-variant

Relevant External Links for AP1S2 Gene

HapMap Linkage Disequilibrium report
AP1S2
Human Gene Mutation Database (HGMD)
AP1S2
Locus Specific Mutation Databases (LSDB)
AP1S2

No data available for Structural Variations from Database of Genomic Variants (DGV) for AP1S2 Gene

Disorders for AP1S2 Gene

(1) OMIM Diseases for AP1S2 Gene (300629)

UniProtKB/Swiss-Prot

AP1S2_HUMAN
  • Mental retardation, X-linked, syndromic 5 (MRXS5) [MIM:304340]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRXS5 is characterized by highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families. {ECO:0000269 PubMed:17186471}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for AP1S2 Gene

Relevant External Links for AP1S2

Genetic Association Database (GAD)
AP1S2
genes like me logo Genes that share disorders with AP1S2: view

Publications for AP1S2 Gene

  1. Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (PMID: 17186471) Tarpey P.S. … Raymond F.L. (Am. J. Hum. Genet. 2006) 2 3 4 23
  2. Identification and characterization of novel clathrin adaptor-related proteins. (PMID: 9733768) Takatsu H. … Nakayama K. (J. Biol. Chem. 1998) 2 3 4
  3. 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
  4. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. (PMID: 18428203) Borck G. … Colleaux L. (Hum. Mutat. 2008) 3 23
  5. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (PMID: 23756445) Cacciagli P. … Villard L. (Eur. J. Hum. Genet. 2013) 2 3

Products for AP1S2 Gene

  • antibodies-online proteins for AP1S2
  • antibodies-online antibodies for AP1S2
  • antibodies-online kits for AP1S2

Sources for AP1S2 Gene

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