ENSG00000073921


Homo sapiens

Features
Gene ID: ENSG00000073921
  
Biological name :PICALM
  
Synonyms : phosphatidylinositol binding clathrin assembly protein / PICALM / Q13492
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q14.2
Gene start: 85957684
Gene end: 86069882
  
Corresponding Affymetrix probe sets: 203134_at (Human Genome U133 Plus 2.0 Array)   212506_at (Human Genome U133 Plus 2.0 Array)   212511_at (Human Genome U133 Plus 2.0 Array)   215236_s_at (Human Genome U133 Plus 2.0 Array)   215832_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435311
Ensembl peptide - ENSP00000434884
Ensembl peptide - ENSP00000435499
Ensembl peptide - ENSP00000487119
Ensembl peptide - ENSP00000436958
Ensembl peptide - ENSP00000436852
Ensembl peptide - ENSP00000436508
Ensembl peptide - ENSP00000435807
Ensembl peptide - ENSP00000435737
Ensembl peptide - ENSP00000348718
Ensembl peptide - ENSP00000377015
Ensembl peptide - ENSP00000431545
Ensembl peptide - ENSP00000431728
Ensembl peptide - ENSP00000432509
Ensembl peptide - ENSP00000432976
Ensembl peptide - ENSP00000433166
Ensembl peptide - ENSP00000433303
Ensembl peptide - ENSP00000433846
NCBI entrez gene - 8301     See in Manteia.
OMIM - 603025
RefSeq - XM_017018388
RefSeq - XM_005274332
RefSeq - XM_005274333
RefSeq - XM_005274334
RefSeq - XM_005274335
RefSeq - XM_005274336
RefSeq - XM_005274337
RefSeq - XM_005274340
RefSeq - XM_006718699
RefSeq - XM_006718700
RefSeq - XM_006718701
RefSeq - XM_011545293
RefSeq - XM_017018381
RefSeq - XM_017018382
RefSeq - XM_017018383
RefSeq - XM_017018384
RefSeq - XM_017018385
RefSeq - XM_017018386
RefSeq - XM_017018387
RefSeq - NM_001008660
RefSeq - NM_001206946
RefSeq - NM_001206947
RefSeq - NM_007166
RefSeq - XM_005274322
RefSeq - XM_005274323
RefSeq - XM_005274324
RefSeq - XM_005274325
RefSeq - XM_005274326
RefSeq - XM_005274327
RefSeq - XM_005274328
RefSeq - XM_005274329
RefSeq - XM_005274330
RefSeq - XM_005274331
RefSeq Peptide - NP_001193876
RefSeq Peptide - NP_009097
RefSeq Peptide - NP_001008660
RefSeq Peptide - NP_001193875
swissprot - E9PI56
swissprot - A0A024R5P1
swissprot - H0YCY1
swissprot - H0YD48
swissprot - H0YE97
swissprot - E9PLJ8
swissprot - H0YEH1
swissprot - H0YEY8
swissprot - Q13492
swissprot - A0A024R5L7
swissprot - H0YEF7
swissprot - E9PKP6
swissprot - E9PK13
swissprot - E9PJT1
Ensembl - ENSG00000073921
  
Related genetic diseases (OMIM): 601626 - Leukemia, acute myeloid, somatic, 601626
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
 picalmaENSDARG00000012866Danio rerio
 picalmbENSDARG00000014137Danio rerio
 PICALMENSGALG00000039037Gallus gallus
 PicalmENSMUSG00000039361Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O60641 / SNAP91 / synaptosome associated protein 91ENSG0000006560953


Protein motifs (from Interpro)
Interpro ID Name
 IPR008942  ENTH/VHS
 IPR011417  AP180 N-terminal homology (ANTH) domain
 IPR013809  ENTH domain
 IPR014712  Phosphoinositide-binding clathrin adaptor, domain 2
 IPR030412  Phosphatidylinositol-binding clathrin assembly protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006898 receptor-mediated endocytosis ISS
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007611 learning or memory ISS
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0016050 vesicle organization IMP
 biological_processGO:0016188 synaptic vesicle maturation ISS
 biological_processGO:0016192 vesicle-mediated transport TAS
 biological_processGO:0016197 endosomal transport IMP
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0030100 regulation of endocytosis IMP
 biological_processGO:0031623 receptor internalization IMP
 biological_processGO:0032880 regulation of protein localization IDA
 biological_processGO:0035459 cargo loading into vesicle IMP
 biological_processGO:0043547 positive regulation of GTPase activity IMP
 biological_processGO:0045056 transcytosis IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0048261 negative regulation of receptor-mediated endocytosis IDA
 biological_processGO:0048268 clathrin coat assembly IEA
 biological_processGO:0048813 dendrite morphogenesis IEA
 biological_processGO:0055072 iron ion homeostasis IMP
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0065003 protein-containing complex assembly TAS
 biological_processGO:0072583 clathrin-dependent endocytosis IMP
 biological_processGO:0090647 modulation of age-related behavioral decline ISS
 biological_processGO:0097494 regulation of vesicle size IMP
 biological_processGO:0097753 membrane bending IMP
 biological_processGO:0098711 iron ion import across plasma membrane IMP
 biological_processGO:1900223 positive regulation of amyloid-beta clearance ISS
 biological_processGO:1901216 positive regulation of neuron death IMP
 biological_processGO:1902004 positive regulation of amyloid-beta formation IMP
 biological_processGO:1902959 regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
 biological_processGO:1902961 positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process ISS
 biological_processGO:1902963 negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process ISS
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane IMP
 biological_processGO:2000009 negative regulation of protein localization to cell surface IMP
 biological_processGO:2000370 positive regulation of clathrin-dependent endocytosis NAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005905 clathrin-coated pit IMP
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030122 AP-2 adaptor complex IDA
 cellular_componentGO:0030132 clathrin coat of coated pit IDA
 cellular_componentGO:0030136 clathrin-coated vesicle IEA
 cellular_componentGO:0031224 intrinsic component of membrane ISS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031982 vesicle ISS
 cellular_componentGO:0042734 presynaptic membrane ISS
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0045211 postsynaptic membrane ISS
 cellular_componentGO:0045334 clathrin-coated endocytic vesicle NAS
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISS
 cellular_componentGO:0070381 endosome to plasma membrane transport vesicle IDA
 cellular_componentGO:0097418 neurofibrillary tangle IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0005545 1-phosphatidylinositol binding IEA
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0030276 clathrin binding IEA
 molecular_functionGO:0032050 clathrin heavy chain binding IDA
 molecular_functionGO:0035615 clathrin adaptor activity IMP
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0050750 low-density lipoprotein particle receptor binding IPI


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000049245 VAMP3 / Q15836 / vesicle associated membrane protein 3  / complex / reaction
 ENSG00000118640 VAMP8 / Q9BV40 / vesicle associated membrane protein 8  / reaction / complex
 ENSG00000220205 VAMP2 / P63027 / vesicle associated membrane protein 2  / complex / reaction






 

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