| Tbio | Obscurin-like protein 1 |
Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Three M Syndrome 2 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 9.1e-09 |
| atypical teratoid / rhabdoid tumor | 5112 | 6.9e-07 |
| osteosarcoma | 7950 | 8.0e-07 |
| group 4 medulloblastoma | 1855 | 1.1e-05 |
| glioblastoma | 5792 | 2.8e-05 |
| breast carcinoma | 1638 | 7.0e-05 |
| medulloblastoma, large-cell | 6241 | 1.5e-04 |
| acute quadriplegic myopathy | 1158 | 1.8e-04 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 3.5e-04 |
| lung cancer | 4740 | 1.1e-03 |
| astrocytic glioma | 2597 | 1.3e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 1.3e-03 |
| Multiple myeloma | 1332 | 1.8e-03 |
| oligodendroglioma | 2850 | 3.3e-03 |
| primary Sjogren syndrome | 735 | 7.5e-03 |
| cutaneous lupus erythematosus | 1057 | 9.5e-03 |
| ovarian cancer | 8520 | 1.1e-02 |
| adult high grade glioma | 3801 | 1.2e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.8e-02 |
| ependymoma | 4679 | 2.3e-02 |
| Disease | Target Count |
|---|---|
| 3-M syndrome | 15 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.427 | 1.8e-04 |
| adult high grade glioma | -1.100 | 1.2e-02 |
| astrocytic glioma | 1.100 | 1.3e-03 |
| atypical teratoid / rhabdoid tumor | 1.800 | 6.9e-07 |
| breast carcinoma | -1.200 | 7.0e-05 |
| cutaneous lupus erythematosus | -1.300 | 9.5e-03 |
| ependymoma | 1.600 | 2.3e-02 |
| glioblastoma | 1.100 | 2.8e-05 |
| group 4 medulloblastoma | -1.900 | 1.1e-05 |
| intraductal papillary-mucinous adenoma (... | -1.800 | 3.5e-04 |
| intraductal papillary-mucinous carcinoma... | -1.800 | 1.3e-03 |
| intraductal papillary-mucinous neoplasm ... | -1.500 | 1.8e-02 |
| lung cancer | 1.500 | 1.1e-03 |
| medulloblastoma, large-cell | -1.700 | 1.5e-04 |
| Multiple myeloma | -1.114 | 1.8e-03 |
| oligodendroglioma | 1.300 | 3.3e-03 |
| osteosarcoma | 1.262 | 8.0e-07 |
| ovarian cancer | -1.100 | 1.1e-02 |
| primary Sjogren syndrome | -1.700 | 7.5e-03 |
| psoriasis | -1.500 | 9.1e-09 |
MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLL 1 - 70 LTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVL 71 - 140 RGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCH 141 - 210 ARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWH 211 - 280 WEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDV 281 - 350 EGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRT 351 - 420 VANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTRE 421 - 490 DAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGS 491 - 560 EDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDG 561 - 630 EDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCP 631 - 700 GVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRK 701 - 770 HRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRW 771 - 840 YKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIVYPSGKVYVAA 841 - 910 VRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDESASFT 911 - 980 VTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERDGPRCRLVLPA 981 - 1050 AQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLE 1051 - 1120 VEASDALQLGAEGPTRTLTLPHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEP 1121 - 1190 VVLSCELSRAGAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTV 1191 - 1260 QVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQG 1261 - 1330 ARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVT 1331 - 1400 PGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSARLHVRETELLFLRRLQDVRAEEGQDVCLEV 1401 - 1470 ETGRVGAAGAVRWVRGGQPLPHDSRLSMAQDGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQL 1471 - 1540 RVLRPLEDVTISEGGSATFQLELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVS 1541 - 1610 FTADSLRCAARLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALG 1611 - 1680 TRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFECTVSEVETTGR 1681 - 1750 WELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLALLEVEALPLQMCRHPPREKTV 1751 - 1820 LVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHGPTHSLVIHDVRPEDQGTYCCQAGQDSTHTR 1821 - 1890 LLVEGN 1891 - 1896 //
