| Tbio | Phosphatidylinositol-binding clathrin assembly protein |
Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction.
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Comments
| Disease | Target Count |
|---|---|
| Leukemia, Myelocytic, Acute | 113 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3099 | 2.84388592921825E-11 |
| juvenile dermatomyositis | 1189 | 1.54756997403145E-10 |
| lung adenocarcinoma | 2714 | 8.33307305296763E-7 |
| osteosarcoma | 7933 | 1.97845728797616E-6 |
| medulloblastoma, large-cell | 6234 | 9.06795199864278E-5 |
| Multiple myeloma | 1328 | 1.18547799518547E-4 |
| dermatomyositis | 967 | 1.41255251909866E-4 |
| ovarian cancer | 8492 | 3.53787340451405E-4 |
| Down syndrome | 548 | 6.0666443626868E-4 |
| ependymoma | 2514 | 0.00197561008598043 |
| medulloblastoma | 1524 | 0.0024761158973265 |
| atypical teratoid / rhabdoid tumor | 4369 | 0.00291548563147862 |
| psoriasis | 6685 | 0.00322834893082815 |
| progressive supranuclear palsy | 674 | 0.00917765473631056 |
| lung cancer | 4473 | 0.0223836735204123 |
| Gaucher disease type 1 | 171 | 0.0252037152963402 |
| glioblastoma | 5572 | 0.0290359951779976 |
| pilocytic astrocytoma | 3086 | 0.0385690169892826 |
| astrocytoma | 1493 | 0.0392675957886943 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alzheimer's disease | 644 | 5.478 | 2.7 |
| Disease | Target Count |
|---|---|
| Leukemia, Acute Myeloid | 17 |
| acute T cell leukemia | 17 |
| Disease | log2 FC | p |
|---|---|---|
| Multiple myeloma | 1.130 | 0.000 |
| psoriasis | 1.100 | 0.003 |
| osteosarcoma | 2.826 | 0.000 |
| ependymoma | 1.300 | 0.002 |
| astrocytoma | 1.200 | 0.039 |
| glioblastoma | 1.100 | 0.029 |
| atypical teratoid / rhabdoid tumor | 1.500 | 0.003 |
| medulloblastoma | -1.100 | 0.002 |
| medulloblastoma, large-cell | -2.100 | 0.000 |
| juvenile dermatomyositis | 1.082 | 0.000 |
| lung cancer | -1.400 | 0.022 |
| pilocytic astrocytoma | 1.100 | 0.039 |
| lung adenocarcinoma | 1.549 | 0.000 |
| progressive supranuclear palsy | -1.100 | 0.009 |
| Breast cancer | -1.100 | 0.000 |
| ovarian cancer | 1.600 | 0.000 |
| Gaucher disease type 1 | -1.600 | 0.025 |
| Down syndrome | 2.000 | 0.001 |
| dermatomyositis | 2.000 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Xenopus | OMA Inparanoid |
| PMID | Text |
|---|---|
| 26434199 | the rs541458 and rs3851179 of PICALM SNPs are not related to development of behavioral and psychological symptoms of dementia in Turkish population |
| 25898166 | CALM is a major factor in controlling endocytic clathrin-coated vesicle size and maturation and hence in determining the rates of endocytic cargo uptake. |
| 25359311 | We detected a significant association of the MTHFR rs1801133 and PICALM rs3851179 polymorphisms with AD. |
| 25241929 | PICALM has a role in modulating autophagy activity and tau accumulation |
| 25169757 | allelic expression has shown that compelling PICALM allelic expression imbalance was not observed in most brain RNA samples |
| 25022885 | PICALM SNP is significantly associated with late onset Alzheimer disease. |
| 24660791 | physical activity attenuated the effects of genetic risk (ie. the constellation of PICALM, BIN1, and CLU polymorphisms) on episodic memory |
| 24618820 | multiple PICALM isoforms are expressed in the human brain, that PICALM is robustly expressed in microvessels, and that expression of total PICALM is modestly correlated with the AD-associated SNP rs3851179. |
| 24613704 | Data suggest a neural mechanism for APOE-PICALM interactions in patients with manifest Alzheimer's disease and indicate that the PICALM genotype modulates both brain atrophy and cognitive performance in APOE epsilon4 carrier |
| 24578178 | PICALM and CLU risk genotypes exert differential impacts on the hippocampal resting-state functional connectivity in healthy young subjects. |
| More... |
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNS 1 - 70 SWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQ 71 - 140 VAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAA 141 - 210 YNEGIINLLEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQ 211 - 280 HLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKP 281 - 350 HTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGD 351 - 420 PFSATVDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFE 421 - 490 SVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKN 491 - 560 DVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAYPATTPTGMIGYGIPPQMGSVPVMTQPTLIY 561 - 630 SQPVMRPPNPFGPVSGAQIQFM 631 - 652 //
| PMID | Year | Title |
|---|---|---|
| 26434199 | 2015 | LACK OF ASSOCIATIONS BETWEEN CLU AND PICALM GENE POLYMORPHISMS AND ALZHEIMER'S DISEASE IN A TURKISH POPULATION. |
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 25898166 | 2015 | CALM regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. |
| 25468996 | 2014 | E-cadherin interactome complexity and robustness resolved by quantitative proteomics. |
| 25359311 | 2015 | Association of MTHFR and PICALM polymorphisms with Alzheimer's disease. |
| 25241929 | 2014 | PICALM modulates autophagy activity and tau accumulation. |
| 25218447 | 2014 | Uncovering global SUMOylation signaling networks in a site-specific manner. |
| 25169757 | 2014 | An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform. |
| 25022885 | 2014 | Genetic evidence for the involvement of variants at APOE, BIN1, CR1, and PICALM loci in risk of late-onset Alzheimer's disease and evaluation for interactions with APOE genotypes. |
| 24660791 | 2014 | The benefits of staying active in old age: physical activity counteracts the negative influence of PICALM, BIN1, and CLU risk alleles on episodic memory functioning. |
| More... |
