| Tbio | Ankyrin repeat domain-containing protein 27 |
May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).
Comments
| Disease | Target Count |
|---|---|
| Eosinophilic esophagitis | 31 |
| Major Depressive Disorder | 106 |
| Disease | Target Count | P-value |
|---|---|---|
| acute quadriplegic myopathy | 1157 | 6.64648444241159E-6 |
| malignant mesothelioma | 3163 | 2.20161604222312E-5 |
| group 4 medulloblastoma | 1875 | 2.32436180401749E-5 |
| pediatric high grade glioma | 2712 | 4.13407897661583E-5 |
| glioblastoma | 5572 | 4.97496551412092E-4 |
| dermatomyositis | 967 | 7.62683969264418E-4 |
| ovarian cancer | 8492 | 9.37435801713318E-4 |
| Waldenstrons macroglobulinemia | 765 | 0.013324450040101 |
| pancreatic ductal adenocarcinoma liver metastasis | 1795 | 0.016381012016253 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mental depression | 58 | 0.0 | 1.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hermansky-Pudlak syndrome | 43 | 4.218 | 2.1 |
| Disease | log2 FC | p |
|---|---|---|
| Waldenstrons macroglobulinemia | 1.067 | 0.013 |
| malignant mesothelioma | 1.200 | 0.000 |
| glioblastoma | -1.100 | 0.000 |
| acute quadriplegic myopathy | 1.044 | 0.000 |
| pancreatic ductal adenocarcinoma liver m... | 1.067 | 0.016 |
| pediatric high grade glioma | -1.100 | 0.000 |
| group 4 medulloblastoma | -1.400 | 0.000 |
| ovarian cancer | 1.700 | 0.001 |
| dermatomyositis | 1.500 | 0.001 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA Inparanoid |
| Horse | OMA Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA Inparanoid |
| Opossum | EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 25407941 | Eosinophilic esophagitis was associate with increased expression of ANKRD27. |
| 23104059 | VAMP7-SNARE motif is trapped between Varp and the VAMP7 longin domain, and hence Varp kinetically inhibits the ability of VAMP7 to form SNARE complexes |
| 20628086 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 19913121 | Observational study of gene-disease association. (HuGE Navigator) |
| 19745841 | show that TI-VAMP interacts with the Vps9 domain and ankyrin-repeat-containing protein Varp, a guanine nucleotide exchange factor of the small GTPase Rab21, through a specific domain herein called the interacting domain. |
| 18477474 | Varp physically interacts with Rab38, and preferentially binds to the active GTP-bound form of Rab38 both in vitro and in vivo. |
MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNG 1 - 70 KDVFIQGNRIKLGAGFACLLSVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIED 71 - 140 VREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANALYTKCLQQLLRDSHLKMLAKQEAQMNLMKQ 141 - 210 AVEIYVHHEIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNKCTSP 211 - 280 QQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGY 281 - 350 CLTSFEAAIEYIRQGSLSAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQE 351 - 420 DHDKDTVQKMCHPLCFCDDCEKLVSGRLNDPSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVN 421 - 490 ATDYHGATPLHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYGHEDCVKALVYYDVESCRLDI 491 - 560 GNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQNRLKETPLKCALNSKILSVMEAYHLSFERRQKSSEA 561 - 630 PVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAE 631 - 700 DTVSAADPEFCHPLCQCPKCAPAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANA 701 - 770 GARNADQAVPLHLACQQGHFQVVKCLLDSNAKPNKKDLSGNTPLIYACSGGHHELVALLLQHGASINASN 771 - 840 NKGNTALHEAVIEKHVFVVELLLLHGASVQVLNKRQRTAVDCAEQNSKIMELLQVVPSCVASLDDVAETD 841 - 910 RKEYVTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARDRSVPNLTEGSLHEPGRQSVT 911 - 980 LRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLRRHTVEDAVVSQGPEAAGPLSTPQEVSASRS 981 - 1050 //
| PMID | Year | Title |
|---|---|---|
| 25407941 | 2014 | GWAS identifies four novel eosinophilic esophagitis loci. |
| 24856514 | 2014 | VARP is recruited on to endosomes by direct interaction with retromer, where together they function in export to the cell surface. |
| 23377640 | 2013 | Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. |
| 23104059 | 2012 | The binding of Varp to VAMP7 traps VAMP7 in a closed, fusogenically inactive conformation. |
| 22705394 | 2012 | A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery. |
| 21808068 | 2011 | RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. |
| 19946888 | 2010 | Defining the membrane proteome of NK cells. |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. |
| More... |
