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

Gene ID: 1175, updated on 5-Jul-2020

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
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

Genomic context

See AP2S1 in Genome Data Viewer
Location:
19q13.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (46838136..46850846, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47341423..47354203, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985273 Neighboring gene small NF90 (ILF3) associated RNA E Neighboring gene Rho GTPase activating protein 35 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to clathrin adaptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
AP-2 adaptor complex TAS
Traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle NAS
Non-traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
endolysosome membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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
sigma2-adaptin

NCBI Reference Sequences (RefSeq)

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..17811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301076.2NP_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)
    AC008622, AC098794, AI139089, BC006337, BQ221562, CA454481
    Consensus CDS
    CCDS77321.1
    UniProtKB/Swiss-Prot
    P53680
    UniProtKB/TrEMBL
    M0QYZ2
    Related
    ENSP00000470176.1, ENST00000601498.5
    Conserved Domains (1) summary
    pfam01217
    Location:18158
    Clat_adaptor_s; Clathrin adaptor complex small chain
  2. NM_001301078.2NP_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)
    AC008622, AI139089, BC006337, BG282225, CB108423, DB472500
    Consensus CDS
    CCDS77323.1
    UniProtKB/Swiss-Prot
    P53680
    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_001301081.2NP_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)
    AC008622, AC098794, AI139089, BC006337, BI561502
    Consensus CDS
    CCDS77322.1
    UniProtKB/Swiss-Prot
    P53680
    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
    P53680
    Related
    ENSP00000263270.5, ENST00000263270.10
    Conserved Domains (1) summary
    cd14833
    Location:1141
    AP2_sigma; AP-2 complex subunit sigma
  5. NM_021575.4NP_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)
    AC008622, AI139089, AJ713543, BC006337, DB472500
    Consensus CDS
    CCDS12693.1
    UniProtKB/Swiss-Prot
    P53680
    Related
    ENSP00000470898.1, ENST00000601649.1
    Conserved Domains (1) summary
    cl02092
    Location:1104
    Clat_adaptor_s; Clathrin adaptor complex small chain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    46838136..46850846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526424.3XP_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_011526423.2XP_011524725.1  AP-2 complex subunit sigma isoform X1

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