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    AP2S1 adaptor related protein complex 2 subunit sigma 1 [ Homo sapiens (human) ]

    Gene ID: 1175, updated on 10-Dec-2024

    Summary

    Official Symbol
    AP2S1provided by HGNC
    Official Full Name
    adaptor related protein complex 2 subunit sigma 1provided by HGNC
    Primary source
    HGNC:HGNC:565
    See related
    Ensembl:ENSG00000042753 MIM:602242; AllianceGenome:HGNC:565
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AP17; FBH3; HHC3; FBHOk; CLAPS2
    Summary
    One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in placenta (RPKM 25.3), brain (RPKM 23.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See AP2S1 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46838167..46850846, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49664001..49676674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47341424..47354103, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14850 Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47341466-47341966 Neighboring gene small NF90 (ILF3) associated RNA E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47358600-47359538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47359539-47360475 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10833 Neighboring gene Rho GTPase activating protein 35 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10834 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:47466169-47467368 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47479369-47480226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47480227-47481082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47505718-47506463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47506464-47507210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47508684-47509262 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47514658-47514871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10835 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47533967-47534068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47534993-47535494 Neighboring gene neuronal PAS domain protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env Two independent motifs, a membrane proximal conserved GYxxO motif (residues 711-715) and a C-terminal dileucine motif (residues 855-856), of the HIV-1 gp41 protein mediate endocytosis through interaction with the clathrin adaptor AP-2 PubMed
    env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
    Nef nef Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex PubMed
    nef HIV-1 Nef (residues 54-203) binds with low micromolar affinity to the AP-2 alpha1 (residues 1-392)-sigma2 (residues 1-142) hemicomplex. The central loop (residues 149-179) and the core (residues 55-65) of Nef are involved in the binding PubMed
    nef Interaction of HIV-1 Nef with AP-2 alpha-sigma dimer is required for Nef-mediated CD4 downregulation. The dileucine L164L165 and M168L170 motifs bind to the sigma unit, while the acidic motif E174 and D175 binds to the alpha unit PubMed
    Pr55(Gag) gag HIV-1 Gag binds to AP-2, and this binding is dependent on tyrosine residue 132 and valine residue 135 at the matrix-capsid junction in the Gag polyprotein PubMed
    Tat tat HIV-1 Tat enters T cells by using clathrin/AP2-mediated endocytosis followed by low-pH-induced and Hsp90-assisted endosomal translocation, which leads to cell responses that are induced from the cytosol PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to clathrin adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of AP-2 adaptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasmic side of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    AP-2 complex subunit sigma
    Names
    HA2 17 kDa subunit
    adaptor protein complex AP-2 subunit sigma
    adaptor related protein complex 2 sigma 1 subunit
    clathrin assembly protein 2 sigma small chain
    clathrin coat assembly protein AP17
    clathrin coat-associated protein AP17
    clathrin-associated/assembly/adaptor protein, small 2 (17kD)
    plasma membrane adaptor AP-2 17 kDa protein
    sigma-2
    sigma2-adaptin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033136.1 RefSeqGene

      Range
      5101..17780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301076.3NP_001288005.1  AP-2 complex subunit sigma isoform 3

      See identical proteins and their annotated locations for NP_001288005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC098794, AI139089, BC006337, BQ221562, CA454481
      Consensus CDS
      CCDS77321.1
      UniProtKB/TrEMBL
      M0QYZ2
      Related
      ENSP00000470176.1, ENST00000601498.5
      Conserved Domains (1) summary
      cd14833
      Location:18157
      AP2_sigma; AP-2 complex subunit sigma
    2. NM_001301078.3NP_001288007.1  AP-2 complex subunit sigma isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, initiates translation at an alternate start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. It encodes isoform 4, which is shorter and has a distinct N-terminus, compared to isoform 3.
      Source sequence(s)
      AI139089, BC006337, BG282225, CB108423, DB472500
      Consensus CDS
      CCDS77323.1
      UniProtKB/TrEMBL
      X6R390
      Related
      ENSP00000263271.6, ENST00000352203.8
      Conserved Domains (1) summary
      pfam01217
      Location:1156
      Clat_adaptor_s; Clathrin adaptor complex small chain
    3. NM_001301081.3NP_001288010.1  AP-2 complex subunit sigma isoform 5

      See identical proteins and their annotated locations for NP_001288010.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 3. It encodes isoform 5, which has a shorter and distinct N-terminus, compared to isoform 3.
      Source sequence(s)
      AC098794, AI139089, BC006337, BI561502
      Consensus CDS
      CCDS77322.1
      UniProtKB/TrEMBL
      M0R0N4
      Related
      ENSP00000471340.1, ENST00000599990.5
      Conserved Domains (1) summary
      cd14833
      Location:4143
      AP2_sigma; AP-2 complex subunit sigma
    4. NM_004069.6NP_004060.2  AP-2 complex subunit sigma isoform AP17

      See identical proteins and their annotated locations for NP_004060.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (AP17) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 3. It encodes isoform AP17, which has a shorter and distinct N-terminus, compared to isoform 3.
      Source sequence(s)
      AI139089, BC006337, DB472500
      Consensus CDS
      CCDS33062.1
      UniProtKB/Swiss-Prot
      B2R4Z4, O75977, P53680, Q6PK67
      Related
      ENSP00000263270.6, ENST00000263270.11
      Conserved Domains (1) summary
      cd14833
      Location:1141
      AP2_sigma; AP-2 complex subunit sigma
    5. NM_021575.5NP_067586.1  AP-2 complex subunit sigma isoform AP17delta

      See identical proteins and their annotated locations for NP_067586.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (AP17delta) contains an alternate 5' terminal exon, initiates translation at an alternate start codon and lacks an alternate in-frame exon in the coding region, compared to variant 3. It encodes isoform AP17delta, which is shorter and has a distinct N-terminus, compared to isoform 3. .
      Source sequence(s)
      AI139089, AJ713543, BC006337, DB472500
      Consensus CDS
      CCDS12693.1
      UniProtKB/Swiss-Prot
      P53680
      Related
      ENSP00000470898.1, ENST00000601649.1
      Conserved Domains (1) summary
      cl38905
      Location:1103
      longin-like; Longin-like domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      46838167..46850846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526424.4XP_011524726.1  AP-2 complex subunit sigma isoform X2

      Conserved Domains (1) summary
      pfam01217
      Location:4158
      Clat_adaptor_s; Clathrin adaptor complex small chain
    2. XM_011526423.3XP_011524725.1  AP-2 complex subunit sigma isoform X1

      Conserved Domains (1) summary
      pfam01217
      Location:18172
      Clat_adaptor_s; Clathrin adaptor complex small chain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      49664001..49676674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319733.1XP_054175708.1  AP-2 complex subunit sigma isoform X2

    2. XM_054319732.1XP_054175707.1  AP-2 complex subunit sigma isoform X1