Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

AP2S1_HUMAN

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 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif . May also play a role in extracellular calcium homeostasis. [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
15 Arg Cys Hypocalciurichypercalcemia,familial3(HHC3) -
15 Arg His Hypocalciurichypercalcemia,familial3(HHC3) -
15 Arg Leu Hypocalciurichypercalcemia,familial3(HHC3) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in AP2S1_HUMAN
GO:0046872 metal ion binding 23.7288 4 no
GO:0017076 purine nucleotide binding 22.0339 4 no
GO:0032555 purine ribonucleotide binding 22.0339 4 no
GO:0035639 purine ribonucleoside triphosphate binding 22.0339 4 no
GO:0035615 clathrin adaptor activity 15.2542 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in AP2S1_HUMAN
GO:0016192 vesicle-mediated transport 62.7119 4 yes
GO:0006897 endocytosis 49.1525 5 yes
GO:0048522 positive regulation of cellular process 49.1525 4 no
GO:0071702 organic substance transport 45.7627 4 yes
GO:0071705 nitrogen compound transport 45.7627 4 yes
GO:0008104 protein localization 42.3729 4 yes
GO:0015031 protein transport 40.6780 4 yes
GO:0006886 intracellular protein transport 35.5932 4 yes
GO:0051128 regulation of cellular component organization 35.5932 4 yes
GO:0051049 regulation of transport 32.2034 4 yes
GO:0006898 receptor-mediated endocytosis 30.5085 6 yes
GO:0010646 regulation of cell communication 30.5085 4 no
GO:0060255 regulation of macromolecule metabolic process 27.1186 4 no
GO:0048523 negative regulation of cellular process 27.1186 4 no
GO:0060627 regulation of vesicle-mediated transport 25.4237 4 yes
GO:0009893 positive regulation of metabolic process 25.4237 4 no
GO:0051130 positive regulation of cellular component organization 25.4237 5 no
GO:0022607 cellular component assembly 23.7288 4 yes
GO:0010604 positive regulation of macromolecule metabolic process 23.7288 5 no
GO:0051171 regulation of nitrogen compound metabolic process 23.7288 4 no
GO:0080090 regulation of primary metabolic process 23.7288 4 no
GO:0009966 regulation of signal transduction 23.7288 4 no
GO:0006996 organelle organization 22.0339 4 no
GO:0030100 regulation of endocytosis 20.3390 5 yes
GO:0043933 protein-containing complex organization 20.3390 4 yes
GO:0065003 protein-containing complex assembly 20.3390 5 yes
GO:0072583 clathrin-dependent endocytosis 20.3390 7 yes
GO:0031323 regulation of cellular metabolic process 20.3390 4 no
GO:0051173 positive regulation of nitrogen compound metabolic process 20.3390 5 no
GO:0048584 positive regulation of response to stimulus 20.3390 4 no
GO:0051050 positive regulation of transport 20.3390 4 no
GO:1902531 regulation of intracellular signal transduction 20.3390 5 no
GO:0048268 clathrin coat assembly 13.5593 6 yes

Disease

Term Name % Distance from top the of the tree Annotated in AP2S1_HUMAN
DOID:12678 hypercalcemia 3.3898 5 yes
DOID:0050032 mineral metabolism disease 3.3898 3 yes
DOID:0060699 familial hypocalciuric hypercalcemia 3.3898 6 yes
DOID:0060702 familial hypocalciuric hypercalcemia 3 3.3898 7 yes
DOID:10575 calcium metabolism disease 3.3898 4 yes
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
CD4_HUMAN [view interactions] Low throughput no no
TGON2_HUMAN [view interactions] Low throughput no yes
AP2S1_HUMAN [view entry] [view interactions] Low throughput yes no
NECP2_HUMAN [view interactions] Low throughput no yes
AAGAB_HUMAN [view interactions] Low throughput no yes
AP2B1_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2A2_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2A1_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2M1_HUMAN [view entry] [view interactions] Low throughput yes yes
AP1G1_HUMAN [view entry] [view interactions] Low throughput yes yes
RNF41_HUMAN [view interactions] Low throughput no yes
NUMB_HUMAN [view entry] [view interactions] High throughput yes yes
MK06_HUMAN [view interactions] High throughput no yes
DCTN3_HUMAN [view entry] [view interactions] High throughput yes yes
CLCB_HUMAN [view entry] [view interactions] High throughput yes yes
SMO_HUMAN [view interactions] High throughput no yes
GPBL1_HUMAN [view interactions] High throughput no yes
AMPH_HUMAN [view entry] [view interactions] High throughput yes yes
EP15R_HUMAN [view entry] [view interactions] High throughput yes yes
BMP2K_HUMAN [view interactions] High throughput no yes
STON2_HUMAN [view interactions] High throughput no yes
AAK1_HUMAN [view entry] [view interactions] High throughput yes yes
RBP1_HUMAN [view entry] [view interactions] High throughput yes yes
FCHO2_HUMAN [view interactions] High throughput no yes
EPS15_HUMAN [view entry] [view interactions] High throughput yes yes
UBB_HUMAN [view entry] [view interactions] High throughput yes yes
SHC1_HUMAN [view entry] [view interactions] High throughput yes yes
ZDHC5_HUMAN [view entry] [view interactions] High throughput yes yes
ESR1_HUMAN [view interactions] High throughput no no
VCAM1_HUMAN [view interactions] High throughput no no
CFTR_HUMAN [view interactions] High throughput no no
GRB2_HUMAN [view entry] [view interactions] High throughput yes yes
HMGA2_HUMAN [view interactions] High throughput no yes
RET_HUMAN [view interactions] High throughput no yes
SRC_HUMAN [view entry] [view interactions] High throughput yes no
TNS2_HUMAN [view interactions] High throughput no no
EGFR_HUMAN [view interactions] High throughput no no
MK03_HUMAN [view entry] [view interactions] High throughput yes yes
JUN_HUMAN [view interactions] High throughput no yes
BCAR1_HUMAN [view interactions] High throughput no yes
ITM2B_HUMAN [view interactions] High throughput no yes
ANS1B_HUMAN [view entry] [view interactions] High throughput yes yes
BMI1_HUMAN [view interactions] High throughput no yes
TDGF1_HUMAN [view interactions] High throughput no no
DNJC5_HUMAN [view interactions] High throughput no yes
CE128_HUMAN [view interactions] High throughput no yes
TMM17_HUMAN [view interactions] High throughput no yes
CETN2_HUMAN [view interactions] High throughput no yes
OCRL_HUMAN [view interactions] High throughput no yes
KHK_HUMAN [view interactions] High throughput no no
RAB25_HUMAN [view interactions] High throughput no no
PAK5_HUMAN [view interactions] High throughput no yes
DPOLQ_HUMAN [view interactions] High throughput no no
ITA4_HUMAN [view interactions] High throughput no no
RNF11_HUMAN [view interactions] High throughput no yes
EPHA2_HUMAN [view interactions] High throughput no no
EED_HUMAN [view interactions] High throughput no yes
UTP25_HUMAN [view interactions] High throughput no yes
CCD32_HUMAN [view interactions] High throughput no yes
ITSN1_HUMAN [view entry] [view interactions] High throughput yes yes
REPS1_HUMAN [view interactions] High throughput no yes
AP1B1_HUMAN [view entry] [view interactions] High throughput yes yes
ARFG1_HUMAN [view interactions] High throughput no no
ITSN2_HUMAN [view entry] [view interactions] High throughput yes yes
RUN3A_HUMAN [view interactions] High throughput no yes
IKIP_HUMAN [view interactions] High throughput no no
RNF4_HUMAN [view interactions] High throughput no yes
TNFA_HUMAN [view interactions] High throughput no no
ESR2_HUMAN [view interactions] High throughput no no
AGO2_HUMAN [view interactions] High throughput no yes
RECQ4_HUMAN [view interactions] High throughput no yes
MYC_HUMAN [view interactions] High throughput no yes
WIPI2_HUMAN [view interactions] High throughput no yes
CUL9_HUMAN [view interactions] High throughput no no
DVL2_HUMAN [view interactions] High throughput no yes
DPYL2_HUMAN [view entry] [view interactions] High throughput yes yes
KIF14_HUMAN [view interactions] High throughput no no
NUPR1_HUMAN [view interactions] High throughput no no
SC6A4_HUMAN [view entry] [view interactions] High throughput yes no
CFAD_HUMAN [view interactions] High throughput no no
FNDC5_HUMAN [view interactions] High throughput no no
UBQL2_HUMAN [view interactions] High throughput no yes
SGIP1_HUMAN [view entry] [view interactions] High throughput yes yes
SNX9_HUMAN [view entry] [view interactions] High throughput yes yes
ZCH10_HUMAN [view interactions] High throughput no yes
INSY1_HUMAN [view entry] [view interactions] High throughput yes yes
NAA25_HUMAN [view interactions] High throughput no yes
UQCC1_HUMAN [view interactions] High throughput no yes
PLCB3_HUMAN [view entry] [view interactions] High throughput yes no
ARHG1_HUMAN [view interactions] High throughput no no
PAAT_HUMAN [view interactions] High throughput no yes
MANF_HUMAN [view interactions] High throughput no yes
H15_HUMAN [view interactions] High throughput no no
RAN_HUMAN [view entry] [view interactions] High throughput yes no
PUR6_HUMAN [view entry] [view interactions] High throughput yes yes
RHG18_HUMAN [view interactions] High throughput no yes
CLCA_HUMAN [view entry] [view interactions] High throughput yes no
ROA2_HUMAN [view entry] [view interactions] High throughput yes yes
NECP1_HUMAN [view interactions] High throughput no no
ACACA_HUMAN [view entry] [view interactions] High throughput yes yes
RASK_HUMAN [view entry] [view interactions] High throughput yes no
RIT1_HUMAN [view interactions] High throughput no yes
UBC_HUMAN [view entry] [view interactions] High throughput yes yes
MYO6_HUMAN [view entry] [view interactions] High throughput yes no
MIB1_HUMAN [view entry] [view interactions] High throughput yes yes
RN183_HUMAN [view interactions] High throughput no no
IFM1_HUMAN [view interactions] High throughput no no
BASI_HUMAN [view entry] [view interactions] High throughput yes no
AP4E1_HUMAN [view interactions] Computational no no
KPCA_HUMAN [view entry] [view interactions] Computational yes yes
DNAL4_HUMAN [view interactions] Computational no yes
AP4B1_HUMAN [view interactions] Computational no yes
FZD2_HUMAN [view interactions] Computational no no
ROR1_HUMAN [view interactions] Computational no no
AP4M1_HUMAN [view interactions] Computational no yes
AP5M1_HUMAN [view interactions] Computational no no
GRIA4_HUMAN [view entry] [view interactions] Computational yes no
GRIA2_HUMAN [view entry] [view interactions] Computational yes yes
CLH2_HUMAN [view interactions] Computational no no
AP5B1_HUMAN [view interactions] Computational no yes
GRIP1_HUMAN [view entry] [view interactions] Computational yes yes
AP3M2_HUMAN [view entry] [view interactions] Computational yes yes
HIP1_HUMAN [view entry] [view interactions] Computational yes yes
EPN1_HUMAN [view entry] [view interactions] Computational yes yes
AP1M1_HUMAN [view entry] [view interactions] Computational yes yes
GRIA1_HUMAN [view entry] [view interactions] Computational yes yes
AFTIN_HUMAN [view interactions] Computational no yes
ROR2_HUMAN [view entry] [view interactions] Computational yes yes
GRIA3_HUMAN [view entry] [view interactions] Computational yes yes
AP3S1_HUMAN [view entry] [view interactions] Computational yes no
KPCG_HUMAN [view entry] [view interactions] Computational yes yes
KCNQ5_HUMAN [view interactions] Computational no yes
EHD2_HUMAN [view interactions] Computational no no
AP5S1_HUMAN [view interactions] Computational no yes
AP3S2_HUMAN [view entry] [view interactions] Computational yes no
NCALD_HUMAN [view entry] [view interactions] Computational yes yes
PICK1_HUMAN [view entry] [view interactions] Computational yes yes
AP1S1_HUMAN [view entry] [view interactions] Computational yes yes
ARF6_HUMAN [view entry] [view interactions] Computational yes yes
FZD5_HUMAN [view interactions] Computational no yes
SYNRG_HUMAN [view interactions] Computational no yes