Human Gene PML (uc002awj.1) Description and Page Index
  Description: Homo sapiens promyelocytic leukemia (PML), transcript variant 2, mRNA.
RefSeq Summary (NM_033240): 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, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr15:74,287,014-74,328,734 Size: 41,721 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr15:74,287,154-74,325,949 Size: 38,796 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:74,287,014-74,328,734)mRNA (may differ from genome)Protein (568 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BT57_HUMAN
DESCRIPTION: SubName: Full=Protein PML;
SIMILARITY: Contains 1 RING-type zinc finger.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PML
CDC HuGE Published Literature: PML
Positive Disease Associations: Body Height , Paget's disease
Related Studies:
  1. Body Height
    Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature. [PubMed 20881960]
  2. Paget's disease
    Omar M E Albagha et al. Nature genetics 2011, Genome-wide association identifies three new susceptibility loci for Paget's disease of bone., Nature genetics. [PubMed 21623375]

-  MalaCards Disease Associations
  MalaCards Gene Search: PML
Diseases sorted by gene-association score: leukemia, acute promyelocytic, somatic* (190), acute promyelocytic leukemia pml/rara type* (100), rabies (46), leukemia (43), herpes simplex (19), neuronal intranuclear inclusion disease (13), bloom syndrome (10), bladder diverticulum (9), influenza (5), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.60 RPKM in Adipose - Subcutaneous
Total median expression: 489.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.42140-0.289 Picture PostScript Text
3' UTR -1025.822785-0.368 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021978 - DUF3583
IPR000315 - Znf_B-box
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00643 - B-box zinc finger
PF01442 - Apolipoprotein A1/A4/E domain
PF12126 - Protein of unknown function (DUF3583)

SCOP Domains:
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on H3BT57
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008270 zinc ion binding
GO:0046872 metal ion binding

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  S76395 - PML-RARA fusion gene {junction sequence der(17)} [human, acute promyelocytic leukemia patient 6, mRNA Mutant, 55 nt].
X63131 - H.sapiens My1 (PML) mRNA.
AB209411 - Homo sapiens mRNA for promyelocytic leukemia protein isoform 1 variant protein.
LQ878900 - Sequence 15 from Patent WO2018154075.
S50913 - PML [human, mRNA, 2251 nt].
M73778 - Human PML-1 protein (PML) mRNA, complete cds.
AF230409 - Homo sapiens tripartite motif protein TRIM19 iota mRNA, complete cds.
AF230410 - Homo sapiens tripartite motif protein TRIM19 kappa mRNA, complete cds.
AF230402 - Homo sapiens tripartite motif protein TRIM19 beta mRNA, complete cds.
AF230403 - Homo sapiens tripartite motif protein TRIM19 gamma mRNA, complete cds.
AF230404 - Homo sapiens tripartite motif protein TRIM19 delta mRNA, complete cds.
AF230405 - Homo sapiens tripartite motif protein TRIM19 epsilon mRNA, complete cds.
AF230408 - Homo sapiens tripartite motif protein TRIM19 theta mRNA, complete cds.
AF230406 - Homo sapiens tripartite motif protein TRIM19 zeta mRNA, complete cds.
AF230407 - Homo sapiens tripartite motif protein TRIM19 eta mRNA, complete cds.
AF230411 - Homo sapiens tripartite motif protein TRIM19 lambda mRNA, complete cds.
AF230401 - Homo sapiens tripartite motif protein TRIM19 alpha mRNA, complete cds.
BC000080 - Homo sapiens promyelocytic leukemia, mRNA (cDNA clone MGC:2268 IMAGE:3506984), complete cds.
BC020994 - Homo sapiens promyelocytic leukemia, mRNA (cDNA clone MGC:2415 IMAGE:2958462), complete cds.
AK300256 - Homo sapiens cDNA FLJ58282 complete cds, highly similar to Probable transcription factor PML.
AK300951 - Homo sapiens cDNA FLJ58284 complete cds, moderately similar to Probable transcription factor PML.
M79463 - Homo sapiens PML-2 (PML) mRNA, complete cds.
M79464 - Homo sapiens PML-3 (PML) mRNA, complete cds.
M80185 - Human PML-3B mRNA, complete CDS.
M79462 - Homo sapiens PML-1 (PML) mRNA, complete cds.
AB208950 - Homo sapiens mRNA for promyelocytic leukemia protein isoform 11 variant protein.
AB384942 - Synthetic construct DNA, clone: pF1KB4394, Homo sapiens PML gene for promyelocytic leukemia, complete cds, without stop codon, in Flexi system.
KJ897348 - Synthetic construct Homo sapiens clone ccsbBroadEn_06742 PML gene, encodes complete protein.
BT009911 - Homo sapiens promyelocytic leukemia mRNA, complete cds.
M82829 - Human fusion protein mRNA, complete cds.
AB209051 - Homo sapiens mRNA for promyelocytic leukemia protein isoform 8 variant protein.
BC034251 - Homo sapiens promyelocytic leukemia, mRNA (cDNA clone IMAGE:4155976), containing frame-shift errors.
BC139795 - Homo sapiens promyelocytic leukemia, mRNA (cDNA clone IMAGE:40122477), partial cds.
M82827 - Human fusion protein mRNA, complete cds.
BX647287 - Homo sapiens mRNA; cDNA DKFZp781L2036 (from clone DKFZp781L2036).
JD382611 - Sequence 363635 from Patent EP1572962.
JD211378 - Sequence 192402 from Patent EP1572962.
JD212637 - Sequence 193661 from Patent EP1572962.
CU674024 - Synthetic construct Homo sapiens gateway clone IMAGE:100020081 5' read PML mRNA.
MH401091 - Homo sapiens PML-RARalpha fusion protein mRNA, partial cds.
EF535849 - Homo sapiens PML/RARA fusion mRNA, partial sequence.
AB067754 - Homo sapiens mRNA for PML/RAR alpha, partial cds.
MH401093 - Homo sapiens PML-RARalpha subtype bcr1 fusion protein mRNA, partial cds.
AF388193 - Homo sapiens PML/RARA fusion mRNA, partial sequence.
AF388194 - Homo sapiens PML/RARA fusion mRNA, partial sequence.
AF370432 - Homo sapiens PP8675 mRNA, complete cds.
JD496051 - Sequence 477075 from Patent EP1572962.
JD532845 - Sequence 513869 from Patent EP1572962.
JD116735 - Sequence 97759 from Patent EP1572962.
JD547000 - Sequence 528024 from Patent EP1572962.
AK026871 - Homo sapiens cDNA: FLJ23218 fis, clone ADSU01816, highly similar to HUMORFD Human fusion protein mRNA.
JD131921 - Sequence 112945 from Patent EP1572962.
JD375643 - Sequence 356667 from Patent EP1572962.
JD532935 - Sequence 513959 from Patent EP1572962.
JD178490 - Sequence 159514 from Patent EP1572962.
JD047468 - Sequence 28492 from Patent EP1572962.
JD251711 - Sequence 232735 from Patent EP1572962.
JD527647 - Sequence 508671 from Patent EP1572962.
JD422007 - Sequence 403031 from Patent EP1572962.
JD096933 - Sequence 77957 from Patent EP1572962.
JD443628 - Sequence 424652 from Patent EP1572962.
JD123780 - Sequence 104804 from Patent EP1572962.
JD123781 - Sequence 104805 from Patent EP1572962.
JD397509 - Sequence 378533 from Patent EP1572962.
JD090589 - Sequence 71613 from Patent EP1572962.
JD190199 - Sequence 171223 from Patent EP1572962.
JD126641 - Sequence 107665 from Patent EP1572962.
JD412273 - Sequence 393297 from Patent EP1572962.
JD155440 - Sequence 136464 from Patent EP1572962.
JD128451 - Sequence 109475 from Patent EP1572962.
JD094581 - Sequence 75605 from Patent EP1572962.
JD293647 - Sequence 274671 from Patent EP1572962.
JD149920 - Sequence 130944 from Patent EP1572962.
JD434838 - Sequence 415862 from Patent EP1572962.
JD044728 - Sequence 25752 from Patent EP1572962.
JD326136 - Sequence 307160 from Patent EP1572962.
JD161055 - Sequence 142079 from Patent EP1572962.
JD123520 - Sequence 104544 from Patent EP1572962.
JD133170 - Sequence 114194 from Patent EP1572962.
JD158270 - Sequence 139294 from Patent EP1572962.
JD531360 - Sequence 512384 from Patent EP1572962.
JD094671 - Sequence 75695 from Patent EP1572962.
JD125334 - Sequence 106358 from Patent EP1572962.
JD198661 - Sequence 179685 from Patent EP1572962.
JD113204 - Sequence 94228 from Patent EP1572962.
JD091382 - Sequence 72406 from Patent EP1572962.
JD071367 - Sequence 52391 from Patent EP1572962.
JD241889 - Sequence 222913 from Patent EP1572962.
JD455282 - Sequence 436306 from Patent EP1572962.
JD282881 - Sequence 263905 from Patent EP1572962.
JD543751 - Sequence 524775 from Patent EP1572962.
JD479900 - Sequence 460924 from Patent EP1572962.
CQ873821 - Sequence 240 from Patent WO2004076622.
CQ873857 - Sequence 276 from Patent WO2004076622.
DD413658 - Regulation of Mammalian Cells.
DD413694 - Regulation of Mammalian Cells.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis
hsa04144 - Endocytosis
hsa05200 - Pathways in cancer
hsa05221 - Acute myeloid leukemia

BioCarta from NCI Cancer Genome Anatomy Project
h_pmlPathway - Regulation of transcriptional activity by PML

-  Other Names for This Gene
  Alternate Gene Symbols: AB208950, H3BT57, H3BT57_HUMAN
UCSC ID: uc002awj.1
RefSeq Accession: NM_033240
Protein: H3BT57

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB208950.1
exon count: 5CDS single in 3' UTR: no RNA size: 4502
ORF size: 1707CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3472.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 2971# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.