PML promyelocytic leukemia [Homo sapiens (human)]

Gene Symbol	PML
Entrez Gene ID	5371
Full Name	promyelocytic leukemia
Synonyms	MYL, PP8675, RNF71, TRIM19
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:15 Map Location:15q22
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].
Disorder	MIM: 102578 Leukemia, acute promyelocytic, PML/RARA type (3)

mRNA	NM_033244, 109637787
Protein	NP_150247, 109637788
Product	protein PML isoform 5
RefSeq Status	REVIEWED
mRNA	NM_033238, 67089148
Protein	NP_150241, 67089149
Product	protein PML isoform 1
RefSeq Status	REVIEWED
mRNA	NM_033249, 67089150
Protein	NP_150252, 15451779
Product	protein PML isoform 10
RefSeq Status	REVIEWED
mRNA	NM_033246, 67089151
Protein	NP_150249, 15451775
Product	protein PML isoform 7
RefSeq Status	REVIEWED
mRNA	NM_002675, 67089152
Protein	NP_002666, 4505903
Product	protein PML isoform 6
RefSeq Status	REVIEWED
mRNA	NM_033247, 67089153
Protein	NP_150250, 67089154
Product	protein PML isoform 8
RefSeq Status	REVIEWED
mRNA	NM_033239, 67089155
Protein	NP_150242, 15451765
Product	protein PML isoform 9
RefSeq Status	REVIEWED
mRNA	NM_033240, 67089156
Protein	NP_150243, 67089157
Product	protein PML isoform 2
RefSeq Status	REVIEWED
mRNA	NM_033250, 67089159
Protein	NP_150253, 67089160
Product	protein PML isoform 11
RefSeq Status	REVIEWED

KEGG

hsa04144	Endocytosis
hsa04120	Ubiquitin mediated proteolysis
hsa05200	Pathways in cancer
hsa05221	Acute myeloid leukemia

WikiPathways

WP231

TNF-alpha/NF-kB Signaling Pathway

Pathway Interaction Database

mtor_4pathway	mTOR signaling pathway
p53downstreampathway	Direct p53 effectors
tgfbrpathway	TGF-beta receptor signaling

Reactome

REACT_25078	Interferon gamma signaling
REACT_6900	Signaling in Immune system
REACT_25229	Interferon Signaling

Homo sapiens (human)	PML	NP_150241.2
Pan troglodytes (chimpanzee)	PML	NP_001035900.1
Bos taurus (cattle)	PML	XP_001788410.1
Mus musculus (house mouse)	Pml	NP_835188.1
Rattus norvegicus (Norway rat)	Pml	XP_236296.4
Gallus gallus (chicken)	PML	XP_413692.2
Gallus gallus (chicken)	PML	XP_413690.2

Process

ID	Name	Evidence
GO:0001666	response to hypoxia	IDA
GO:0001932	regulation of protein phosphorylation	ISS
GO:0002230	positive regulation of defense response to virus by host	IMP
GO:0006461	protein complex assembly	IDA
GO:0006605	protein targeting	IDA
GO:0006605	protein targeting	IMP
GO:0006917	induction of apoptosis	IDA
GO:0006917	induction of apoptosis	IEA
GO:0006919	activation of caspase activity	IEA
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	ISS
GO:0007050	cell cycle arrest	IDA
GO:0007050	cell cycle arrest	IEA
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA
GO:0007182	common-partner SMAD protein phosphorylation	IEA
GO:0007184	SMAD protein import into nucleus	IEA
GO:0007569	cell aging	IEA
GO:0008285	negative regulation of cell proliferation	IMP
GO:0008630	DNA damage response, signal transduction resulting in induction of apoptosis	IDA
GO:0009411	response to UV	IEA
GO:0009615	response to virus	IEA
GO:0010332	response to gamma radiation	IEA
GO:0010522	regulation of calcium ion transport into cytosol	ISS
GO:0016525	negative regulation of angiogenesis	IMP
GO:0019221	cytokine-mediated signaling pathway	TAS
GO:0030099	myeloid cell differentiation	IEA
GO:0030308	negative regulation of cell growth	IDA
GO:0030578	PML body organization	IDA
GO:0030578	PML body organization	IMP
GO:0031065	positive regulation of histone deacetylation	IDA
GO:0032211	negative regulation of telomere maintenance via telomerase	IMP
GO:0032469	endoplasmic reticulum calcium ion homeostasis	ISS
GO:0032938	negative regulation of translation in response to oxidative stress	IDA
GO:0034097	response to cytokine stimulus	IDA
GO:0042771	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	ISS
GO:0044419	interspecies interaction between organisms	IEA
GO:0045165	cell fate commitment	IEA
GO:0045343	regulation of MHC class I biosynthetic process	IEA
GO:0045892	negative regulation of transcription, DNA-dependent	IDA
GO:0045930	negative regulation of mitotic cell cycle	IDA
GO:0048384	retinoic acid receptor signaling pathway	IEA
GO:0050821	protein stabilization	IDA
GO:0051457	maintenance of protein location in nucleus	IDA
GO:0051974	negative regulation of telomerase activity	IMP
GO:0060333	interferon-gamma-mediated signaling pathway	TAS
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA
GO:2000059	negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IMP

Component

ID	Name	Evidence
GO:0005622	intracellular	IEA
GO:0005626	insoluble fraction	IDA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005730	nucleolus	IDA
GO:0005730	nucleolus	IDA
GO:0005737	cytoplasm	IDA
GO:0005768	endosome	IEA
GO:0005783	endoplasmic reticulum	IEA
GO:0005829	cytosol	ISS
GO:0016020	membrane	IEA
GO:0016363	nuclear matrix	IDA
GO:0016363	nuclear matrix	IEA
GO:0016605	PML body	IDA
GO:0016605	PML body	IDA
GO:0016605	PML body	TAS
GO:0031901	early endosome membrane	IEA
GO:0031965	nuclear membrane	IDA
GO:0042406	extrinsic to endoplasmic reticulum membrane	ISS

Function

ID	Name	Evidence
GO:0003677	DNA binding	IEA
GO:0003713	transcription coactivator activity	IDA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IDA
GO:0008270	zinc ion binding	IEA
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0032183	SUMO binding	IPI
GO:0042803	protein homodimerization activity	IPI
GO:0046332	SMAD binding	IEA
GO:0046872	metal ion binding	IEA
GO:0046982	protein heterodimerization activity	IDA
GO:0050897	cobalt ion binding	IDA

GeneCards	PML
PDB	1BOR
UniProt	E9PG00, E9PBR7, P29590
MIM	102578
Ensembl	ENSG00000140464
HGNC	9113
HPRD	00023

RefSeq Accession	Definition	Sequence	Price	Select
NM_033244	Homo sapiens promyelocytic leukemia (PML), transcript variant 5, mRNA.	Full Length	$1083.60
NM_033244		ORF Sequence	$488.07
NM_033238	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	Full Length	$2520.00
NM_033238		ORF Sequence	$768.21
NM_033249	Homo sapiens promyelocytic leukemia (PML), transcript variant 10, mRNA.	Full Length	$611.90
NM_033249		ORF Sequence	$509.82
NM_033246	Homo sapiens promyelocytic leukemia (PML), transcript variant 7, mRNA.	Full Length	$536.79
NM_033246		ORF Sequence	$368.88
NM_002675	Homo sapiens promyelocytic leukemia (PML), transcript variant 6, mRNA.	Full Length	$653.66
NM_002675		ORF Sequence	$551.58
NM_033247	Homo sapiens promyelocytic leukemia (PML), transcript variant 8, mRNA.	Full Length	$521.13
NM_033247		ORF Sequence	$379.32
NM_033239	Homo sapiens promyelocytic leukemia (PML), transcript variant 9, mRNA.	Full Length	$1080.80
NM_033239		ORF Sequence	$722.10
NM_033240	Homo sapiens promyelocytic leukemia (PML), transcript variant 2, mRNA.	Full Length	$1312.85
NM_033240		ORF Sequence	$532.44
NM_033250	Homo sapiens promyelocytic leukemia (PML), transcript variant 11, mRNA.	Full Length	$853.76
NM_033250		ORF Sequence	$680.34

	Secured Online Quotation
	Email: gene@genscript.com
	Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188
	Fax: 1-732-210-0262 1-732-885-5878