Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
liver | 100% | 1265.91 | 226 / 226 | 100% | 38.68 | 406 / 406 |
ovary | 100% | 1914.67 | 180 / 180 | 100% | 42.14 | 430 / 430 |
thymus | 100% | 2140.72 | 653 / 653 | 100% | 67.39 | 605 / 605 |
uterus | 100% | 1882.06 | 170 / 170 | 100% | 52.54 | 459 / 459 |
skin | 100% | 2016.76 | 1808 / 1809 | 100% | 52.98 | 472 / 472 |
kidney | 100% | 2312.37 | 89 / 89 | 100% | 53.51 | 900 / 901 |
brain | 100% | 1619.82 | 2639 / 2642 | 100% | 57.60 | 705 / 705 |
prostate | 100% | 2749.36 | 245 / 245 | 100% | 111.62 | 501 / 502 |
lung | 100% | 2001.34 | 578 / 578 | 100% | 37.23 | 1152 / 1155 |
stomach | 100% | 1840.69 | 359 / 359 | 100% | 43.96 | 285 / 286 |
adrenal gland | 100% | 2927.02 | 258 / 258 | 100% | 33.82 | 229 / 230 |
esophagus | 100% | 2352.30 | 1445 / 1445 | 99% | 30.49 | 182 / 183 |
pancreas | 100% | 1447.84 | 328 / 328 | 99% | 43.86 | 177 / 178 |
intestine | 100% | 2071.17 | 966 / 966 | 99% | 49.21 | 524 / 527 |
breast | 100% | 1985.53 | 459 / 459 | 99% | 62.23 | 1108 / 1118 |
bladder | 100% | 2320.10 | 21 / 21 | 99% | 47.55 | 499 / 504 |
adipose | 100% | 1920.20 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 2491.27 | 1335 / 1335 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 100% | 93.42 | 80 / 80 |
lymph node | 0% | 0 | 0 / 0 | 100% | 122.64 | 29 / 29 |
spleen | 100% | 1497.66 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 37.51 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 34.49 | 1 / 1 |
muscle | 99% | 1065.39 | 794 / 803 | 0% | 0 | 0 / 0 |
heart | 98% | 1261.17 | 848 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 98% | 1577.53 | 906 / 929 | 0% | 0 | 0 / 0 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0000724 | Biological process | double-strand break repair via homologous recombination |
GO_0006974 | Biological process | DNA damage response |
GO_0016925 | Biological process | protein sumoylation |
GO_0032204 | Biological process | regulation of telomere maintenance |
GO_0140588 | Biological process | chromatin looping |
GO_0000775 | Cellular component | chromosome, centromeric region |
GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
GO_0097431 | Cellular component | mitotic spindle pole |
GO_0030915 | Cellular component | Smc5-Smc6 complex |
GO_0000781 | Cellular component | chromosome, telomeric region |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005634 | Cellular component | nucleus |
GO_0061630 | Molecular function | ubiquitin protein ligase activity |
GO_0004842 | Molecular function | ubiquitin-protein transferase activity |
GO_0046983 | Molecular function | protein dimerization activity |
GO_0005515 | Molecular function | protein binding |
GO_0046872 | Molecular function | metal ion binding |
Gene name | NSMCE1 |
Protein name | Non-structural maintenance of chromosomes element 1 homolog (Non-SMC element 1 homolog) (EC 2.3.2.27) Non-structural maintenance of chromosomes element 1 homolog (EC 2.3.2.27) NSE1 homolog, SMC5-SMC6 complex component |
Synonyms | HSPC337 HSPC333 |
Description | FUNCTION: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair . NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair . MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors . . FUNCTION: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Involved in maintenance of genome integrity, DNA damage response and DNA repair. . FUNCTION: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Involved in maintenance of genome integrity, DNA damage response and DNA repair. . FUNCTION: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Involved in maintenance of genome integrity, DNA damage response and DNA repair. . FUNCTION: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Involved in maintenance of genome integrity, DNA damage response and DNA repair. . FUNCTION: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Involved in maintenance of genome integrity, DNA damage response and DNA repair. . |
Accessions | ENST00000563900.5 ENST00000564342.5 ENST00000569236.5 H3BR73 H3BSL0 H3BR31 ENST00000566087.5 H3BN81 Q8WV22 ENST00000361439.9 ENST00000567710.5 ENST00000562039.1 I3L1I3 H3BV05 ENST00000563273.5 |