• Gene id: 5371

Gene Summary

• Gene Symbol: PML   Gene   UCSC   Ensembl
• Aliases: MYL, PP8675, RNF71, TRIM19
• Gene name: PML nuclear body scaffold
• Alternate names: protein PML, PML/RARA fusion, RING finger protein 71, probable transcription factor PML, promyelocytic leukemia protein, promyelocytic leukemia, inducer of, tripartite motif protein TRIM19, tripartite motif-containing protein 19,
• Gene location: 15q24.1 (73994672: 74047826)     Exons: 10     NC_000015.10
• Gene summary(Entrez): 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 wh
• OMIM: 102578

SNPs

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

Protein Summary

• Protein general information: P29590  
  • Name: Protein PML (Promyelocytic leukemia protein) (RING finger protein 71) (Tripartite motif containing protein 19)
  • Length: 882  
  • Mass: 97551
• Sequence:

  MEPAPARSPRPQQDPARPQEPTMPPPETPSEGRQPSPSPSPTERAPASEEEFQFLRCQQCQAEAKCPKLLPCLHT
  LCSGCLEASGMQCPICQAPWPLGADTPALDNVFFESLQRRLSVYRQIVDAQAVCTRCKESADFWCFECEQLLCAK
  CFEAHQWFLKHEARPLAELRNQSVREFLDGTRKTNNIFCSNPNHRTPTLTSIYCRGCSKPLCCSCALLDSSHSEL
  KCDISAEIQQRQEELDAMTQALQEQDSAFGAVHAQMHAAVGQLGRARAETEELIRERVRQVVAHVRAQERELLEA
  VDARYQRDYEEMASRLGRLDAVLQRIRTGSALVQRMKCYASDQEVLDMHGFLRQALCRLRQEEPQSLQAAVRTDG
  FDEFKVRLQDLSSCITQGKDAAVSKKASPEAASTPRDPIDVDLPEEAERVKAQVQALGLAEAQPMAVVQSVPGAH
  PVPVYAFSIKGPSYGEDVSNTTTAQKRKCSQTQCPRKVIKMESEEGKEARLARSSPEQPRPSTSKAVSPPHLDGP
  PSPRSPVIGSEVFLPNSNHVASGAGEAEERVVVISSSEDSDAENSSSRELDDSSSESSDLQLEGPSTLRVLDENL
  ADPQAEDRPLVFFDLKIDNETQKISQLAAVNRESKFRVVIQPEAFFSIYSKAVSLEVGLQHFLSFLSSMRRPILA
  CYKLWGPGLPNFFRALEDINRLWEFQEAISGFLAALPLIRERVPGASSFKLKNLAQTYLARNMSERSAMAAVLAM
  RDLCRLLEVSPGPQLAQHVYPFSSLQCFASLQPLVQAAVLPRAEARLLALHNVSFMELLSAHRRDRQGGLKKYSR
  YLSLQTTTLPPAQPAFNLQALGTYFEGLLEGPALARAEGVSTPLAGRGLAERASQQS

• Structural information:
  • Interpro: IPR021978  IPR000315  IPR001841  IPR013083  IPR017907  
  • Prosite: PS50119 PS00518 PS50089
  • PDB: 1BOR 2MVW 2MWX 4WJN 4WJO 5YUF 6IMQ 6UYO 6UYP 6UYQ 6UYR 6UYS 6UYT 6UYU 6UYV
  • PDBsum: 1BOR 2MVW 2MWX 4WJN 4WJO 5YUF 6IMQ 6UYO 6UYP 6UYQ 6UYR 6UYS 6UYT 6UYU 6UYV
  • DIP: 33053
  • STRING: ENSP00000268058
• Other Databases: GeneCards:  PML  Malacards:  PML

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0016605	PML body	TAS	cellular component
GO:1902187	negative regulation of viral release from host cell	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0032183	SUMO binding	IBA	molecular function
GO:0007050	cell cycle arrest	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:2001235	positive regulation of apoptotic signaling pathway	IBA	biological process
GO:0030578	PML body organization	IBA	biological process
GO:0016605	PML body	IBA	cellular component
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0000785	chromatin	IBA	cellular component
GO:0090398	cellular senescence	IDA	biological process
GO:0090398	cellular senescence	IDA	biological process
GO:0090398	cellular senescence	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0043153	entrainment of circadian clock by photoperiod	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:2000779	regulation of double-strand break repair	IMP	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0042406	extrinsic component of endoplasmic reticulum membrane	ISS	cellular component
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	ISS	biological process
GO:0010522	regulation of calcium ion transport into cytosol	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001932	regulation of protein phosphorylation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051457	maintenance of protein location in nucleus	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000792	heterochromatin	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0007569	cell aging	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0010761	fibroblast migration	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0030099	myeloid cell differentiation	IEA	biological process
GO:0030155	regulation of cell adhesion	IEA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0043153	entrainment of circadian clock by photoperiod	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0050711	negative regulation of interleukin-1 secretion	IEA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:1902187	negative regulation of viral release from host cell	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006606	protein import into nucleus	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007182	common-partner SMAD protein phosphorylation	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0009411	response to UV	IEA	biological process
GO:0010522	regulation of calcium ion transport into cytosol	IEA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0030578	PML body organization	IEA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0042406	extrinsic component of endoplasmic reticulum membrane	IEA	cellular component
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0048146	positive regulation of fibroblast proliferation	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0050713	negative regulation of interleukin-1 beta secretion	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0071353	cellular response to interleukin-4	IEA	biological process
GO:0097191	extrinsic apoptotic signaling pathway	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:2001235	positive regulation of apoptotic signaling pathway	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0032206	positive regulation of telomere maintenance	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034097	response to cytokine	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0045087	innate immune response	IDA	biological process
GO:1902187	negative regulation of viral release from host cell	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0001666	response to hypoxia	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	colocalizes with
GO:0016605	PML body	IDA	cellular component
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	ISS	biological process
GO:0032183	SUMO binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	ISS	biological process
GO:0140037	sumo-dependent protein binding	IPI	molecular function
GO:0030578	PML body organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa04144	Endocytosis
hsa04120	Ubiquitin mediated proteolysis
hsa05202	Transcriptional misregulation in cancer
hsa05164	Influenza A
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Acute myeloid leukemia	KEGG:H00003
Acute myeloid leukemia	KEGG:H00003
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R