| Tbio | Leucine-rich PPR motif-containing protein, mitochondrial |
May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity).
This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leigh syndrome , French Canadian type | 2 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 1.6e-17 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.2e-05 |
| ovarian cancer | 8520 | 1.4e-05 |
| glioblastoma | 5792 | 1.0e-04 |
| tuberculosis and treatment for 6 months | 409 | 2.2e-04 |
| Pick disease | 1894 | 5.5e-04 |
| Multiple myeloma | 1332 | 1.0e-03 |
| medulloblastoma, large-cell | 6241 | 1.4e-03 |
| oligodendroglioma | 2850 | 2.2e-03 |
| osteosarcoma | 7950 | 3.6e-03 |
| astrocytic glioma | 2597 | 6.0e-03 |
| hereditary spastic paraplegia | 318 | 7.8e-03 |
| lung cancer | 4740 | 1.1e-02 |
| ependymoma | 4679 | 1.3e-02 |
| Waldenstrons macroglobulinemia | 765 | 1.7e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 2.4e-02 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 3.2e-02 |
| group 3 medulloblastoma | 4104 | 4.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| cytochrome-c oxidase deficiency disease | 19 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leigh disease | 100 | 6.067 | 3.0 |
| Disease | Target Count |
|---|---|
| Leigh syndrome, French Canadian type | 2 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 1.600 | 6.0e-03 |
| atypical teratoid / rhabdoid tumor | -1.200 | 1.2e-05 |
| ependymoma | 1.800 | 1.3e-02 |
| glioblastoma | -1.400 | 1.0e-04 |
| group 3 medulloblastoma | 1.300 | 4.0e-02 |
| hereditary spastic paraplegia | -1.129 | 7.8e-03 |
| intraductal papillary-mucinous carcinoma... | 1.100 | 3.2e-02 |
| intraductal papillary-mucinous neoplasm ... | 1.300 | 2.4e-02 |
| lung cancer | 1.600 | 1.1e-02 |
| medulloblastoma, large-cell | 1.200 | 1.4e-03 |
| Multiple myeloma | 1.373 | 1.0e-03 |
| non-small cell lung cancer | 1.009 | 1.6e-17 |
| oligodendroglioma | 2.000 | 2.2e-03 |
| osteosarcoma | 1.001 | 3.6e-03 |
| ovarian cancer | -1.800 | 1.4e-05 |
| Pick disease | -1.200 | 5.5e-04 |
| tuberculosis and treatment for 6 months | 1.100 | 2.2e-04 |
| Waldenstrons macroglobulinemia | 1.440 | 1.7e-02 |
MAALLRSARWLLRAGAAPRLPLSLRLLPGGPGRLHAASYLPAARAGPVAGGLLSPARLYAIAAKEKDIQE 1 - 70 ESTFSSRKISNQFDWALMRLDLSVRRTGRIPKKLLQKVFNDTCRSGGLGGSHALLLLRSCGSLLPELKLE 71 - 140 ERTEFAHRIWDTLQKLGAVYDVSHYNALLKVYLQNEYKFSPTDFLAKMEEANIQPNRVTYQRLIASYCNV 141 - 210 GDIEGASKILGFMKTKDLPVTEAVFSALVTGHARAGDMENAENILTVMRDAGIEPGPDTYLALLNAYAEK 211 - 280 GDIDHVKQTLEKVEKSELHLMDRDLLQIIFSFSKAGYPQYVSEILEKVTCERRYIPDAMNLILLLVTEKL 281 - 350 EDVALQILLACPVSKEDGPSVFGSFFLQHCVTMNTPVEKLTDYCKKLKEVQMHSFPLQFTLHCALLANKT 351 - 420 DLAKALMKAVKEEGFPIRPHYFWPLLVGRRKEKNVQGIIEILKGMQELGVHPDQETYTDYVIPCFDSVNS 421 - 490 ARAILQENGCLSDSDMFSQAGLRSEAANGNLDFVLSFLKSNTLPISLQSIRSSLLLGFRRSMNINLWSEI 491 - 560 TELLYKDGRYCQEPRGPTEAVGYFLYNLIDSMSDSEVQAKEEHLRQYFHQLEKMNVKIPENIYRGIRNLL 561 - 630 ESYHVPELIKDAHLLVESKNLDFQKTVQLTSSELESTLETLKAENQPIRDVLKQLILVLCSEENMQKALE 631 - 700 LKAKYESDMVTGGYAALINLCCRHDKVEDALNLKEEFDRLDSSAVLDTGKYVGLVRVLAKHGKLQDAINI 701 - 770 LKEMKEKDVLIKDTTALSFFHMLNGAALRGEIETVKQLHEAIVTLGLAEPSTNISFPLVTVHLEKGDLST 771 - 840 ALEVAIDCYEKYKVLPRIHDVLCKLVEKGETDLIQKAMDFVSQEQGEMVMLYDLFFAFLQTGNYKEAKKI 841 - 910 IETPGIRARSARLQWFCDRCVANNQVETLEKLVELTQKLFECDRDQMYYNLLKLYKINGDWQRADAVWNK 911 - 980 IQEENVIPREKTLRLLAEILREGNQEVPFDVPELWYEDEKHSLNSSSASTTEPDFQKDILIACRLNQKKG 981 - 1050 AYDIFLNAKEQNIVFNAETYSNLIKLLMSEDYFTQAMEVKAFAETHIKGFTLNDAANSRLIITQVRRDYL 1051 - 1120 KEAVTTLKTVLDQQQTPSRLAVTRVIQALAMKGDVENIEVVQKMLNGLEDSIGLSKMVFINNIALAQIKN 1121 - 1190 NNIDAAIENIENMLTSENKVIEPQYFGLAYLFRKVIEEQLEPAVEKISIMAERLANQFAIYKPVTDFFLQ 1191 - 1260 LVDAGKVDDARALLQRCGAIAEQTPILLLFLLRNSRKQGKASTVKSVLELIPELNEKEEAYNSLMKSYVS 1261 - 1330 EKDVTSAKALYEHLTAKNTKLDDLFLKRYASLLKYAGEPVPFIEPPESFEFYAQQLRKLRENSS 1331 - 1394 //
