Sequence in raw or FASTA format:
Homo sapiens promyelocytic leukemia (PML), transcript variant 5, mRNA.
| RefSeq Version | NM_033244.3, 109637787 |
| Length | 3096 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens promyelocytic leukemia (PML), transcript variant 5, mRNA. |
| Product | protein PML isoform 5 |
| Comment | Summary: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]. Transcript Variant: This variant (5), also known as epsilon, differs in the 3' UTR and the 3' coding region, compared to variant 1. The resulting isoform (5) contains a distinct C-terminus, compared to isoform 1. |
| RefSeq | NP_150247.2 |
| CDS | 141..1823 | Exon (1) | 1..269 | Exon (2) | 1..269 | Exon (3) | 270..742 | Exon (4) | 743..1323 | Exon (5) | 1324..1394 | Exon (6) | 1395..1538 | Exon (7) | 1539..1805 | Exon (8) | 1806..1858 | Exon (9) | 1859..3081 |
| Translation | MEPAPARSPRPQQDPARPQEPTMPPPETPSEGRQPSPSPSPTERAPASEEEFQFLRCQQC
QAEAKCPKLLPCLHTLCSGCLEASGMQCPICQAPWPLGADTPALDNVFFESLQRRLSVYR
QIVDAQAVCTRCKESADFWCFECEQLLCAKCFEAHQWFLKHEARPLAELRNQSVREFLDG
TRKTNNIFCSNPNHRTPTLTSIYCRGCSKPLCCSCALLDSSHSELKCDISAEIQQRQEEL
DAMTQALQEQDSAFGAVHAQMHAAVGQLGRARAETEELIRERVRQVVAHVRAQERELLEA
VDARYQRDYEEMASRLGRLDAVLQRIRTGSALVQRMKCYASDQEVLDMHGFLRQALCRLR
QEEPQSLQAAVRTDGFDEFKVRLQDLSSCITQGKDAAVSKKASPEAASTPRDPIDVDLPE
EAERVKAQVQALGLAEAQPMAVVQSVPGAHPVPVYAFSIKGPSYGEDVSNTTTAQKRKCS
QTQCPRKVIKMESEEGKEARLARSSPEQPRPSTSKAVSPPHLDGPPSPRSPVIGSEVFLP
NSNHVASGAGEAGRERNALW
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| Position | Chain | Variation | Link |
| 133..134 | + | , g | dbSNP:35863954 |
| 222 | + | a, c | dbSNP:28504405 |
| 337..338 | + | , c | dbSNP:34228316 |
| 375 | + | c, g | dbSNP:28412621 |
| 514 | + | c, g | dbSNP:77069486 |
| 662 | + | a, g | dbSNP:112099437 |
| 727 | + | a, c | dbSNP:35291318 |
| 812 | + | g, t | dbSNP:17849258 |
| 904..905 | + | , g | dbSNP:34681920 |
| 932 | + | c, t | dbSNP:17849259 |
| 959 | + | a, c | dbSNP:112627818 |
| complement(1225) | - | t, c | dbSNP:74471420 |
| complement(1506) | - | t, c | dbSNP:11555843 |
| 1785 | + | a, g | dbSNP:11855663 |
| 1902 | + | c, t | dbSNP:78340702 |
| 2030 | + | a, g | dbSNP:112272650 |
| 2165 | + | c, t | dbSNP:75056290 |
| 2336 | + | c, t | dbSNP:115552704 |
| 2462 | + | a, c, g | dbSNP:743580 |
| 2487 | + | a, g, t | dbSNP:743581 |
| 2552 | + | c, g | dbSNP:743582 |
| 2622 | + | a, g | dbSNP:76608781 |
| 2684 | + | c, g | dbSNP:111658103 |
| 2800 | + | g, t | dbSNP:762592 |
| 2922 | + | a, g | dbSNP:9479 |
| 2925 | + | c, t | dbSNP:1051697 |
| 2980 | + | c, t | dbSNP:1051700 |
| 2993 | + | c, t | dbSNP:1051702 |
| 3003 | + | c, t | dbSNP:1051703 |
| Gene Symbol | PML |
| Gene Synonym | MYL; PP8675; RNF71; TRIM19 |
| Chromosome | 15 |
| Locus Map | 15q22 |
| All Transcripts | NM_033244 , NM_033238 , NM_033249 , NM_033246 , NM_002675 , NM_033247 , NM_033239 , NM_033240 , NM_033250 |
| Title | PML isoforms I and II participate in PML-dependent restriction of HSV-1 replication . |
| Author | Cuchet,D., Sykes,A., Nicolas,A., Orr,A., Murray,J., Sirma,H., Heeren,J., Bartelt,A. and Everett,R.D. |
| Journal | J. Cell. Sci. 124 (PT 2), 280-291 (2011) |
| Title | Regulation of E2Fs and senescence by PML nuclear bodies . |
| Author | Vernier,M., Bourdeau,V., Gaumont-Leclerc,M.F., Moiseeva,O., Begin,V., Saad,F., Mes-Masson,A.M. and Ferbeyre,G. |
| Journal | Genes Dev. 25 (1), 41-50 (2011) |
| Title | Telomerase suppression initiates PML-dependent p53 activation to inhibit bladder cancer cell growth . |
| Author | Xue,Y., Li,L., Zhang,D., Wu,K., Guo,P., Zeng,J., Wang,X. and He,D. |
| Journal | Oncol. Rep. 24 (6), 1551-1559 (2010) |
| Title | Pilocytic astrocytomas have telomere-associated promyelocytic leukemia bodies without alternatively lengthened telomeres . |
| Author | Slatter,T., Gifford-Garner,J., Wiles,A., Tan,X., Chen,Y.J., MacFarlane,M., Sullivan,M., Royds,J. and Hung,N. |
| Journal | Am. J. Pathol. 177 (6), 2694-2700 (2010) |
| Title | Subcellular distribution of nuclear import-defective isoforms of the promyelocytic leukemia protein . |
| Author | Jul-Larsen,A., Grudic,A., Bjerkvig,R. and Boe,S.O. |
| Journal | BMC Mol. Biol. 11, 89 (2010) |
| Title | Alternative splicing of PML transcripts predicts coexpression of several carboxy-terminally different protein isoforms . |
| Author | Fagioli,M., Alcalay,M., Pandolfi,P.P., Venturini,L., Mencarelli,A., Simeone,A., Acampora,D., Grignani,F. and Pelicci,P.G. |
| Journal | Oncogene 7 (6), 1083-1091 (1992) |
| Title | Molecular rearrangements of the MYL gene in acute promyelocytic leukemia (APL, M3) define a breakpoint cluster region as well as some molecular variants . |
| Author | Tong,J.H., Dong,S., Geng,J.P., Huang,W., Wang,Z.Y., Sun,G.L., Chen,S.J., Chen,Z., Larsen,C.J. and Berger,R. |
| Journal | Oncogene 7 (2), 311-316 (1992) |
| Title | Characterization of a zinc finger gene disrupted by the t(15;17) in acute promyelocytic leukemia . |
| Author | Goddard,A.D., Borrow,J., Freemont,P.S. and Solomon,E. |
| Journal | Science 254 (5036), 1371-1374 (1991) |
| Title | Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RAR alpha with a novel putative transcription factor, PML . |
| Author | Kakizuka,A., Miller,W.H. Jr., Umesono,K., Warrell,R.P. Jr., Frankel,S.R., Murty,V.V., Dmitrovsky,E. and Evans,R.M. |
| Journal | Cell 66 (4), 663-674 (1991) |
| Title | [The laboratory in programs for enteric infection control] . |
| Author | Grados,O.B. |
| Journal | Bol Oficina Sanit Panam 78 (4), 318-322 (1975) |
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