Human Gene AP2B1 (ENST00000610402.5_6) from GENCODE V47lift37
  Description: adaptor related protein complex 2 subunit beta 1, transcript variant 1 (from RefSeq NM_001030006.2)
Gencode Transcript: ENST00000610402.5_6
Gencode Gene: ENSG00000006125.18_13
Transcript (Including UTRs)
   Position: hg19 chr17:33,914,341-34,053,432 Size: 139,092 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr17:33,921,050-34,050,718 Size: 129,669 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:33,914,341-34,053,432)mRNA (may differ from genome)Protein (951 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AP2B1_HUMAN
DESCRIPTION: RecName: Full=AP-2 complex subunit beta; AltName: Full=AP105B; AltName: Full=Adapter-related protein complex 2 beta subunit; AltName: Full=Adaptor protein complex AP-2 subunit beta; AltName: Full=Beta-2-adaptin; AltName: Full=Beta-adaptin; AltName: Full=Clathrin assembly protein complex 2 beta large chain; AltName: Full=Plasma membrane adaptor HA2/AP2 adaptin beta subunit;
FUNCTION: Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin- associated sorting proteins (CLASPs) are recognized by their [DE]- X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.
SUBUNIT: Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Interacts with EPN1. Interacts with EPS15; clathrin competes with EPS15. Interacts with SNAP91; clathrin competes with SNAP91. Interacts with CLTC; clathrin competes with EPS15, SNAP91 and PIP5K1C. Interacts with LDLRAP1. Interacts with AMPH and BIN1. Interacts with ARF6 (GDP-bound). Interacts (dephosphorylated at Tyr-737) with ARRB1; phosphorylation of AP2B1 at Tyr-737 disrupts the interaction. Interacts with SLC2A8. Interacts with SCYL1 and SCYL2. Interacts with TGFBR1 and TGFBR2. Interacts with PIP5K1C; clathrin competes with PIP5K1C (By similarity). Interacts with DENND1B, but not with DENND1A, nor DENND1C. Interacts with FCHO1.
INTERACTION: P84092:Ap2m1 (xeno); NbExp=2; IntAct=EBI-432924, EBI-297693; Q16626:MEA1; NbExp=2; IntAct=EBI-432924, EBI-744921;
SUBCELLULAR LOCATION: Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV.
PTM: Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs).
SIMILARITY: Belongs to the adaptor complexes large subunit family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AP2B1
Diseases sorted by gene-association score: char syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.00130-0.208 Picture PostScript Text
3' UTR -849.202714-0.313 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026739 - AP_beta
IPR016342 - AP_complex_bsu_1_2_4
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR015151 - B-adaptin_app_sub_C
IPR012295 - Beta2_adaptin/TBP_C_dom
IPR002553 - Clathrin/coatomer_adapt-like_N
IPR008152 - Clathrin_a/b/g-adaptin_app_Ig
IPR013037 - Clathrin_b-adaptin_app_Ig-like
IPR009028 - Coatomer/calthrin_app_sub_C
IPR013041 - Coatomer/clathrin_app_Ig-like

Pfam Domains:
PF01602 - Adaptin N terminal region
PF02883 - Adaptin C-terminal domain
PF09066 - Beta2-adaptin appendage, C-terminal sub-domain
PF12717 - non-SMC mitotic condensation complex subunit 1
PF13646 - HEAT repeats

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain
49348 - Clathrin adaptor appendage domain
55711 - Subdomain of clathrin and coatomer appendage domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1E42 - X-ray MuPIT 2G30 - X-ray MuPIT 2IV8 - X-ray MuPIT 2IV9 - X-ray MuPIT 2JKR - X-ray MuPIT 2JKT - X-ray MuPIT 2VGL - X-ray MuPIT 2XA7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P63010
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005048 signal sequence binding
GO:0005515 protein binding
GO:0030276 clathrin binding
GO:0044877 macromolecular complex binding
GO:0035615 clathrin adaptor activity

Biological Process:
GO:0003279 cardiac septum development
GO:0003281 ventricular septum development
GO:0006886 intracellular protein transport
GO:0006897 endocytosis
GO:0007507 heart development
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0032802 low-density lipoprotein particle receptor catabolic process
GO:0034383 low-density lipoprotein particle clearance
GO:0035904 aorta development
GO:0045807 positive regulation of endocytosis
GO:0048013 ephrin receptor signaling pathway
GO:0048268 clathrin coat assembly
GO:0050690 regulation of defense response to virus by virus
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060976 coronary vasculature development
GO:0061024 membrane organization
GO:0072583 clathrin-dependent endocytosis
GO:0099590 neurotransmitter receptor internalization
GO:1901215 negative regulation of neuron death
GO:1905477 positive regulation of protein localization to membrane

Cellular Component:
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0016020 membrane
GO:0030117 membrane coat
GO:0030118 clathrin coat
GO:0030122 AP-2 adaptor complex
GO:0030131 clathrin adaptor complex
GO:0030666 endocytic vesicle membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0036020 endolysosome membrane
GO:0045334 clathrin-coated endocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  M34175 - Human beta adaptin mRNA, complete cds.
AK295667 - Homo sapiens cDNA FLJ54516 complete cds, highly similar to Adapter-relatedprotein complex 2 beta-1 subunit.
AK301522 - Homo sapiens cDNA FLJ53223 complete cds, highly similar to Adapter-relatedprotein complex 2 beta-1 subunit.
AY341427 - Homo sapiens beta adaptin subunit mRNA, complete cds; alternatively spliced.
AK289528 - Homo sapiens cDNA FLJ78733 complete cds, highly similar to Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.
BC006201 - Homo sapiens adaptor-related protein complex 2, beta 1 subunit, mRNA (cDNA clone MGC:3632 IMAGE:3532472), complete cds.
CR749392 - Homo sapiens mRNA; cDNA DKFZp781K0743 (from clone DKFZp781K0743).
AK292531 - Homo sapiens cDNA FLJ78481 complete cds, highly similar to Homo sapiens adaptor-related protein complex 2, beta 1 subunit, mRNA.
HM005335 - Homo sapiens clone HTL-T-22 testicular tissue protein Li 22 mRNA, complete cds.
KJ896395 - Synthetic construct Homo sapiens clone ccsbBroadEn_05789 AP2B1 gene, encodes complete protein.
CU675295 - Synthetic construct Homo sapiens gateway clone IMAGE:100017855 5' read AP2B1 mRNA.
AB384929 - Synthetic construct DNA, clone: pF1KB4329, Homo sapiens AP2B1 gene for AP-2 complex subunit beta-1, complete cds, without stop codon, in Flexi system.
AB587565 - Synthetic construct DNA, clone: pF1KE1497, Homo sapiens AP2B1 gene for adaptor-related protein complex 2, beta 1 subunit, without stop codon, in Flexi system.
DQ896613 - Synthetic construct Homo sapiens clone IMAGE:100011073; FLH195918.01L; RZPDo839H09151D adaptor-related protein complex 2, beta 1 subunit (AP2B1) gene, encodes complete protein.
DQ893282 - Synthetic construct clone IMAGE:100005912; FLH195922.01X; RZPDo839H09152D adaptor-related protein complex 2, beta 1 subunit (AP2B1) gene, encodes complete protein.
AK304126 - Homo sapiens cDNA FLJ55646 complete cds, highly similar to Adapter-relatedprotein complex 2 beta-1 subunit.
BC012150 - Homo sapiens, clone IMAGE:4558274, mRNA, partial cds.
DQ576814 - Homo sapiens piRNA piR-44926, complete sequence.
JD035737 - Sequence 16761 from Patent EP1572962.
JD200985 - Sequence 182009 from Patent EP1572962.
JD288161 - Sequence 269185 from Patent EP1572962.
JD492173 - Sequence 473197 from Patent EP1572962.
JD099508 - Sequence 80532 from Patent EP1572962.
JD099663 - Sequence 80687 from Patent EP1572962.
JD269477 - Sequence 250501 from Patent EP1572962.
JD164628 - Sequence 145652 from Patent EP1572962.
JD304740 - Sequence 285764 from Patent EP1572962.
JD114712 - Sequence 95736 from Patent EP1572962.
JD050590 - Sequence 31614 from Patent EP1572962.
JD051611 - Sequence 32635 from Patent EP1572962.
JD450045 - Sequence 431069 from Patent EP1572962.
JD378818 - Sequence 359842 from Patent EP1572962.
JD468221 - Sequence 449245 from Patent EP1572962.
JD363980 - Sequence 345004 from Patent EP1572962.
JD360558 - Sequence 341582 from Patent EP1572962.
JD169151 - Sequence 150175 from Patent EP1572962.
JD392129 - Sequence 373153 from Patent EP1572962.
JD553012 - Sequence 534036 from Patent EP1572962.
JD554824 - Sequence 535848 from Patent EP1572962.
JD533193 - Sequence 514217 from Patent EP1572962.
JD186062 - Sequence 167086 from Patent EP1572962.
JD354169 - Sequence 335193 from Patent EP1572962.
JD360204 - Sequence 341228 from Patent EP1572962.
JD515408 - Sequence 496432 from Patent EP1572962.
JD234512 - Sequence 215536 from Patent EP1572962.
JD065598 - Sequence 46622 from Patent EP1572962.
JD359031 - Sequence 340055 from Patent EP1572962.
JD044487 - Sequence 25511 from Patent EP1572962.
JD241438 - Sequence 222462 from Patent EP1572962.
JD491276 - Sequence 472300 from Patent EP1572962.
JD090555 - Sequence 71579 from Patent EP1572962.
JD446726 - Sequence 427750 from Patent EP1572962.
JD358103 - Sequence 339127 from Patent EP1572962.
JD079238 - Sequence 60262 from Patent EP1572962.
JD083382 - Sequence 64406 from Patent EP1572962.
JD085289 - Sequence 66313 from Patent EP1572962.
JD434238 - Sequence 415262 from Patent EP1572962.
JD049740 - Sequence 30764 from Patent EP1572962.
JD123241 - Sequence 104265 from Patent EP1572962.
JD360031 - Sequence 341055 from Patent EP1572962.
JD100781 - Sequence 81805 from Patent EP1572962.
JD103820 - Sequence 84844 from Patent EP1572962.
JD194043 - Sequence 175067 from Patent EP1572962.
JD171932 - Sequence 152956 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P63010 (Reactome details) participates in the following event(s):

R-HSA-167537 Formation of CD4:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-182186 Formation of CD8:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-8856808 Recruitment of AP-2 complex and clathrin
R-HSA-8866277 AP-2 directly binds some endocytic cargo
R-HSA-8871196 Initial binding of AP-2 and clathrin to PI(4,5)P2
R-HSA-177491 Formation of clathrin-coated vesicle
R-HSA-392748 L1 binds to AP-2 Clathrin complex
R-HSA-2130640 Recruitment of clathrin coated vesicle by Ii
R-HSA-6784735 PCSK9:LDLR bind to Clathrin
R-HSA-8855131 VLDLR:PCSK9 binds Clathrin-coated vesicles
R-HSA-445071 Reinsertion of L1 into the plasma membrane
R-HSA-167597 Internalization of the CD4:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-182198 Internalization of the CD8:Nef:AP-2 Complex:v-ATPase Complex
R-HSA-5138433 p-DVL2 recruits AP-2 and beta-arrestin 2 to promote clathrin-mediated endocytosis
R-HSA-8856813 AAK1 phosphorylates AP-2 mu subunit at T156
R-HSA-8862280 FCHo proteins bind nascent clathrin-coated pit
R-HSA-8866283 ARBB recruits GPCRs into clathrin-coated pits
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-2130486 Uncoating of clathrin-coated vesicles and fusion with endosomes
R-HSA-177479 Axonal transport of NGF:Trk complexes
R-HSA-177501 Endocytosis (internalization) of clathrin-coated vesicle
R-HSA-374696 Phosphorylation of L1 by p90rsk
R-HSA-392749 Transport of L1 into endosomes
R-HSA-555065 Formation of clathrin coated vesicle
R-HSA-445077 Transport of L1 from C-domain to P-domain
R-HSA-445079 Phosphorylation of L1 by ERK
R-HSA-6784729 PCSK9:LDLR:Clathrin-coated vesicle transport from plasma membrane to endolysosome
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-167590 Nef Mediated CD4 Down-regulation
R-HSA-182218 Nef Mediated CD8 Down-regulation
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-437239 Recycling pathway of L1
R-HSA-2132295 MHC class II antigen presentation
R-HSA-8964038 LDL clearance
R-HSA-8866427 VLDLR internalisation and degradation
R-HSA-5099900 WNT5A-dependent internalization of FZD4
R-HSA-164938 Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-199991 Membrane Trafficking
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-373760 L1CAM interactions
R-HSA-1280218 Adaptive Immune System
R-HSA-8964043 Plasma lipoprotein clearance
R-HSA-4086400 PCP/CE pathway
R-HSA-164952 The role of Nef in HIV-1 replication and disease pathogenesis
R-HSA-422475 Axon guidance
R-HSA-5653656 Vesicle-mediated transport
R-HSA-166520 Signaling by NTRKs
R-HSA-168256 Immune System
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-162909 Host Interactions of HIV factors
R-HSA-1266738 Developmental Biology
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-382551 Transport of small molecules
R-HSA-195721 Signaling by WNT
R-HSA-162906 HIV Infection
R-HSA-162582 Signal Transduction
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease
R-HSA-416639 Trafficking of GluR2-containing AMPA receptors to extrasynaptic sites
R-HSA-416993 Trafficking of GluR2-containing AMPA receptors
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJP3, ADTB2, AP2B1_HUMAN, CLAPB1, ENST00000610402.1, ENST00000610402.2, ENST00000610402.3, ENST00000610402.4, NM_001030006, P21851, P63010, Q7Z451, Q96J19, uc327mte.1, uc327mte.2
UCSC ID: ENST00000610402.5_6
RefSeq Accession: NM_001030006.2
Protein: P63010 (aka AP2B1_HUMAN or A2B1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.