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    AP2B1 adaptor related protein complex 2 subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 163, updated on 8-Jul-2021

    Summary

    Official Symbol
    AP2B1provided by HGNC
    Official Full Name
    adaptor related protein complex 2 subunit beta 1provided by HGNC
    Primary source
    HGNC:HGNC:563
    See related
    Ensembl:ENSG00000006125 MIM:601025
    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
    ADTB2; AP105B; CLAPB1; AP2-BETA
    Summary
    The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 64.4), testis (RPKM 50.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AP2B1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35587265..35726413)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33914341..34053432)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 30 Neighboring gene small nucleolar RNA, C/D box 7 Neighboring gene peroxisomal biogenesis factor 12 Neighboring gene transmembrane protein 160 pseudogene Neighboring gene ribosomal protein L17 pseudogene 42 Neighboring gene RAS like family 10 member B Neighboring gene growth arrest specific 2 like 2

    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?

    Phenotypes

    Associated conditions

    Description Tests
    New gene functions in megakaryopoiesis and platelet formation.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 Env gp41 requires the conserved membrane-proximal AP2B1 binding site in the gp41 cytoplasmic tail to evade antibody-dependent cell-mediated cytotoxicity (ADCC) via membrane-proximal endocytosis PubMed
    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 Clathrin and the clathrin-associated, plasma membrane-localized AP2 complexes are required for the HIV-1 Nef-mediated downregulation of CD4 PubMed
    nef A dileucine-motif-containing segment of Nef binds directly to the beta subunit of the clathrin adaptor complexes AP-2, which are responsible for recruiting sorted proteins into clathrin coated pits PubMed
    nef HIV-1 Nef co-localizes with the beta subunit of the adaptor protein complexes (AP-2) in human T cells; Nef residues 174-179 are required for the co-localization of Nef with the beta subunit PubMed
    nef In cells expressing an HIV-1 Nef-green fluorescent protein (GFP) fusion, CD28 co-localizes with the AP-2 clathrin adaptor and Nef-GFP 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 Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides upregulate gene expression of adaptor-related protein complex 2, beta 1 subunit (AP2B1) in U-937 macrophages PubMed
    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

    Clone Names

    • DKFZp781K0743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to clathrin adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables clathrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables clathrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables clathrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables signal sequence binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aorta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in clathrin coat assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in clathrin-dependent endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of AP-2 adaptor complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of AP-2 adaptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of clathrin adaptor complex IDA
    Inferred from Direct Assay
    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 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
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    AP-2 complex subunit beta
    Names
    adapter-related protein complex 2 beta subunit
    adapter-related protein complex 2 subunit beta
    adaptin, beta 2 (beta)
    adaptor protein complex AP-2 subunit beta
    adaptor related protein complex 2 beta 1 subunit
    adaptor-related protein complex 2 subunit beta
    beta-2-adaptin
    beta-adaptin
    beta2-adaptin
    clathrin assembly protein complex 2 beta large chain
    clathrin-associated/assembly/adaptor protein, large, beta 1
    plasma membrane adaptor HA2/AP2 adaptin beta subunit
    testicular tissue protein Li 22

    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.

    mRNA and Protein(s)

    1. NM_001030006.2NP_001025177.1  AP-2 complex subunit beta isoform a

      See identical proteins and their annotated locations for NP_001025177.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AI691147, BC006201, BC012150, BQ421703, BX643620, M34175
      Consensus CDS
      CCDS32621.1
      UniProtKB/Swiss-Prot
      P63010
      UniProtKB/TrEMBL
      A0A140VJE8, Q96EL6
      Related
      ENSP00000483185.1, ENST00000610402.5
      Conserved Domains (4) summary
      smart00809
      Location:731831
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:840950
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    2. NM_001282.3NP_001273.1  AP-2 complex subunit beta isoform b

      See identical proteins and their annotated locations for NP_001273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AI691147, BQ421703, BX643620, M34175
      Consensus CDS
      CCDS32622.1
      UniProtKB/Swiss-Prot
      P63010
      Related
      ENSP00000482315.1, ENST00000621914.4
      Conserved Domains (4) summary
      smart00809
      Location:717817
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:826936
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      35587265..35726413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524452.1XP_011522754.1  AP-2 complex subunit beta isoform X5

      See identical proteins and their annotated locations for XP_011522754.1

      Conserved Domains (5) summary
      smart00809
      Location:674768
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:815925
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:42211
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
    2. XM_017024285.1XP_016879774.1  AP-2 complex subunit beta isoform X6

    3. XM_011524448.2XP_011522750.1  AP-2 complex subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011522750.1

      Conserved Domains (4) summary
      smart00809
      Location:731825
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:872982
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    4. XM_011524451.2XP_011522753.1  AP-2 complex subunit beta isoform X2

      Conserved Domains (4) summary
      smart00809
      Location:717811
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:858968
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    5. XM_005257941.3XP_005257998.1  AP-2 complex subunit beta isoform X8

      Related
      ENSP00000478471.1, ENST00000616784.4
      Conserved Domains (3) summary
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:99268
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
    6. XM_011524453.1XP_011522755.1  AP-2 complex subunit beta isoform X5

      See identical proteins and their annotated locations for XP_011522755.1

      Conserved Domains (5) summary
      smart00809
      Location:674768
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:815925
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:42211
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
    7. XM_011524455.2XP_011522757.1  AP-2 complex subunit beta isoform X7

      See identical proteins and their annotated locations for XP_011522757.1

      UniProtKB/Swiss-Prot
      P63010
      Conserved Domains (4) summary
      smart00809
      Location:660760
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:769879
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
    8. XM_011524449.3XP_011522751.1  AP-2 complex subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011522751.1

      Conserved Domains (4) summary
      smart00809
      Location:731825
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:872982
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    9. XM_005257937.4XP_005257994.1  AP-2 complex subunit beta isoform X3

      See identical proteins and their annotated locations for XP_005257994.1

      UniProtKB/Swiss-Prot
      P63010
      UniProtKB/TrEMBL
      A0A140VJE8
      Related
      ENSP00000484708.1, ENST00000616681.4
      Conserved Domains (4) summary
      smart00809
      Location:731831
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:840950
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    10. XM_017024284.2XP_016879773.1  AP-2 complex subunit beta isoform X4

      UniProtKB/Swiss-Prot
      P63010
      Conserved Domains (4) summary
      smart00809
      Location:717817
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:826936
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    11. XM_017024287.2XP_016879776.1  AP-2 complex subunit beta isoform X8

      Related
      ENSP00000479691.1, ENST00000614600.4
      Conserved Domains (3) summary
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:99268
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
    12. XM_017024286.1XP_016879775.1  AP-2 complex subunit beta isoform X7

      UniProtKB/Swiss-Prot
      P63010
      Conserved Domains (4) summary
      smart00809
      Location:660760
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:769879
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
    13. XM_011524450.2XP_011522752.1  AP-2 complex subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011522752.1

      Conserved Domains (4) summary
      smart00809
      Location:731825
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:872982
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    14. XM_005257938.3XP_005257995.1  AP-2 complex subunit beta isoform X3

      See identical proteins and their annotated locations for XP_005257995.1

      UniProtKB/Swiss-Prot
      P63010
      UniProtKB/TrEMBL
      A0A140VJE8
      Related
      ENSP00000482835.1, ENST00000618940.4
      Conserved Domains (4) summary
      smart00809
      Location:731831
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:840950
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    15. XM_011524454.1XP_011522756.1  AP-2 complex subunit beta isoform X5

      See identical proteins and their annotated locations for XP_011522756.1

      Conserved Domains (5) summary
      smart00809
      Location:674768
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:815925
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:42211
      Cnd1; non-SMC mitotic condensation complex subunit 1
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
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