ENSG00000042753


Homo sapiens

Features
Gene ID: ENSG00000042753
  
Biological name :AP2S1
  
Synonyms : adaptor related protein complex 2 sigma 1 subunit / AP2S1 / P53680
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.32
Gene start: 46838136
Gene end: 46850992
  
Corresponding Affymetrix probe sets: 202120_x_at (Human Genome U133 Plus 2.0 Array)   208074_s_at (Human Genome U133 Plus 2.0 Array)   211047_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472080
Ensembl peptide - ENSP00000470898
Ensembl peptide - ENSP00000471340
Ensembl peptide - ENSP00000263270
Ensembl peptide - ENSP00000263271
Ensembl peptide - ENSP00000470176
Ensembl peptide - ENSP00000470235
NCBI entrez gene - 1175     See in Manteia.
OMIM - 602242
RefSeq - XM_011526424
RefSeq - NM_001301076
RefSeq - NM_001301078
RefSeq - NM_001301081
RefSeq - NM_004069
RefSeq - NM_021575
RefSeq - XM_011526423
RefSeq Peptide - NP_001288007
RefSeq Peptide - NP_001288010
RefSeq Peptide - NP_004060
RefSeq Peptide - NP_067586
RefSeq Peptide - NP_001288005
swissprot - X6R390
swissprot - P53680
swissprot - M0QYZ2
swissprot - M0QZ21
swissprot - M0R0N4
swissprot - M0R1S0
Ensembl - ENSG00000042753
  
Related genetic diseases (OMIM): 600740 - Hypocalciuric hypercalcemia, type III, 600740
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ap2s1ENSDARG00000026967Danio rerio
 Ap2s1ENSMUSG00000008036Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AP1S2 / P56377 / adaptor related protein complex 1 sigma 2 subunitENSG0000018228742
AP1S1 / P61966 / adaptor related protein complex 1 sigma 1 subunitENSG0000010636740
AP1S3 / Q96PC3 / adaptor related protein complex 1 sigma 3 subunitENSG0000015205639
AP4S1 / Q9Y587 / adaptor related protein complex 4 sigma 1 subunitENSG0000010047829


Protein motifs (from Interpro)
Interpro ID Name
 IPR000804  Clathrin adaptor complex, small chain
 IPR011012  Longin-like domain superfamily
 IPR016635  Adaptor protein complex, sigma subunit
 IPR022775  AP complex, mu/sigma subunit
 IPR027156  AP-2 complex subunit sigma


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007018 microtubule-based movement TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0030100 regulation of endocytosis TAS
 biological_processGO:0032802 low-density lipoprotein particle receptor catabolic process TAS
 biological_processGO:0034383 low-density lipoprotein particle clearance TAS
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0048268 clathrin coat assembly TAS
 biological_processGO:0050690 regulation of defense response to virus by virus TAS
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0072583 clathrin-dependent endocytosis TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030117 membrane coat IEA
 cellular_componentGO:0030122 AP-2 adaptor complex TAS
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0030669 clathrin-coated endocytic vesicle membrane TAS
 cellular_componentGO:0036020 endolysosome membrane TAS
 cellular_componentGO:0045334 clathrin-coated endocytic vesicle NAS
 molecular_functionGO:0005215 transporter activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008565 protein transporter activity NAS
 molecular_functionGO:0035615 clathrin adaptor activity TAS


Pathways (from Reactome)
Pathway description
Nef Mediated CD4 Down-regulation
Retrograde neurotrophin signalling
Nef Mediated CD8 Down-regulation
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000787 Kidney stones 
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 HP:0000934 Chondrocalcinosis 
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 HP:0001012 Lipomas "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001733 Pancreatitis 
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 HP:0002148 Hypophosphatemia "A lower than normal level of blood phosphate." [HPO:curators]
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002749 Osteomalacia "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators]
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 HP:0002918 Hypermagnesemia 
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 HP:0003072 Hypercalcemia "A level of blood calcium that is higher than normal." [HPO:curators]
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 HP:0003127 Hypocalciuria 
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 HP:0003529 Parathormone-independent renal tubular calcium reabsorption defect 
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 HP:0004398 Peptic ulcer 
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 HP:0008200 Primary hyperparathyroidism 
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 HP:0008659 Multiple small medullary renal cysts 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / reaction / complex
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / reaction / complex
 ENSG00000100030 MAPK1 / P28482 / mitogen-activated protein kinase 1  / complex / reaction
 ENSG00000100246 DNAL4 / O96015 / dynein axonemal light chain 4  / reaction
 ENSG00000122705 CLTA / P09496 / clathrin light chain A  / reaction / complex
 ENSG00000114251 WNT5A / P41221 / Wnt family member 5A  / complex / reaction
 ENSG00000019582 CD74 / P04233 / CD74 molecule  / reaction / complex
 ENSG00000169174 PCSK9 / Q8NBP7 / proprotein convertase subtilisin/kexin type 9  / complex / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / reaction / complex
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction / complex
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / complex / reaction
 ENSG00000130164 LDLR / P01130 / low density lipoprotein receptor  / complex / reaction
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / complex / reaction
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / reaction / complex
 ENSG00000134259 NGF / P01138 / nerve growth factor  / complex / reaction
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / complex / reaction
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / complex / reaction
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / complex / reaction
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / reaction / complex
 ENSG00000100151 PICK1 / Q9NRD5 / protein interacting with PRKCA 1  / reaction
 ENSG00000141367 CLTC / Q00610 / clathrin heavy chain  / complex / reaction
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / complex / reaction
 ENSG00000147852 VLDLR / P98155 / very low density lipoprotein receptor  / complex / reaction
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / reaction / complex
 ENSG00000198400 NTRK1 / P04629 / neurotrophic receptor tyrosine kinase 1  / reaction / complex
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000175416 CLTB / P09497 / clathrin light chain B  / complex / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000141480 ARRB2 / P32121 / arrestin beta 2  / complex / reaction
 ENSG00000172116 CD8B / P10966 / CD8b molecule  / reaction / complex
 ENSG00000047249 Q9UI12 / ATP6V1H / ATPase H+ transporting V1 subunit H  / complex / reaction
 ENSG00000155974 GRIP1 / Q9Y3R0 / glutamate receptor interacting protein 1  / reaction
 ENSG00000090889 KIF4A / O95239 / kinesin family member 4A  / reaction / complex
 ENSG00000070371 CLTCL1 / P53675 / clathrin heavy chain like 1  / reaction / complex
 ENSG00000226650 KIF4B / Q2VIQ3 / kinesin family member 4B  / complex / reaction
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction
 ENSG00000174804 FZD4 / Q9ULV1 / frizzled class receptor 4  / complex / reaction






 

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