• Gene id: 1869

Gene Summary

• Gene Symbol: E2F1   Gene   UCSC   Ensembl
• Aliases: E2F-1, RBAP1, RBBP3, RBP3
• Gene name: E2F transcription factor 1
• Alternate names: transcription factor E2F1, PBR3, PRB-binding protein E2F-1, RBAP-1, RBBP-3, retinoblastoma-associated protein 1, retinoblastoma-binding protein 3,
• Gene location: 20q11.22 (33686403: 33675485)     Exons: 7     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DN
• OMIM: 189971

Protein Summary

• Protein general information: Q01094  
  • Name: Transcription factor E2F1 (E2F 1) (PBR3) (Retinoblastoma associated protein 1) (RBAP 1) (Retinoblastoma binding protein 3) (RBBP 3) (pRB binding protein E2F 1)
  • Length: 437  
  • Mass: 46,920
• Sequence:

  MALAGAPAGGPCAPALEALLGAGALRLLDSSQIVIISAAQDASAPPAPTGPAAPAAGPCDPDLLLFATPQAPRPT
  PSAPRPALGRPPVKRRLDLETDHQYLAESSGPARGRGRHPGKGVKSPGEKSRYETSLNLTTKRFLELLSHSADGV
  VDLNWAAEVLKVQKRRIYDITNVLEGIQLIAKKSKNHIQWLGSHTTVGVGGRLEGLTQDLRQLQESEQQLDHLMN
  ICTTQLRLLSEDTDSQRLAYVTCQDLRSIADPAEQMVMVIKAPPETQLQAVDSSENFQISLKSKQGPIDVFLCPE
  ETVGGISPGKTPSQEVTSEEENRATDSATIVSPPPSSPPSSLTTDPSQSLLSLEQEPLLSRMGSLRAPVDEDRLS
  PLVAADSLLEHVREDFSGLLPEEFISLSPPHEALDYHFGLEEGEGIRDLFDCDFGDLTPLDF

• Structural information:
  • Interpro: IPR015633  IPR037241  IPR032198  IPR003316  IPR036388   IPR036390  
  • CDD: cd14660
  • PDB: 1H24 1O9K 2AZE 5M9N 5M9O
  • PDBsum: 1H24 1O9K 2AZE 5M9N 5M9O
  • DIP: 24227
  • STRING: ENSP00000345571
• Other Databases: GeneCards:  E2F1  Malacards:  E2F1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0001047	core promoter binding	IDA	molecular function
GO:0003677	DNA binding	IMP	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IDA	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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006351	transcription, DNA-templated	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030900	forebrain development	IEA	biological process
GO:0035189	Rb-E2F complex	IDA	cellular component
GO:0043276	anoikis	IEA	biological process
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048146	positive regulation of fibroblast proliferation	IMP	biological process
GO:0048255	mRNA stabilization	IDA	biological process
GO:0070345	negative regulation of fat cell proliferation	ISS	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071466	cellular response to xenobiotic stimulus	IEA	biological process
GO:0071930	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:1990086	lens fiber cell apoptotic process	IEA	biological process
GO:1990090	cellular response to nerve growth factor stimulus	IEA	biological process
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IMP	biological process
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0001047	core promoter binding	IDA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IMP	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	ISS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030900	forebrain development	IEA	biological process
GO:0035189	Rb-E2F complex	IDA	cellular component
GO:0043276	anoikis	IEA	biological process
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IEA	molecular function
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048146	positive regulation of fibroblast proliferation	IMP	biological process
GO:0048255	mRNA stabilization	IDA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0070345	negative regulation of fat cell proliferation	IEA	biological process
GO:0070345	negative regulation of fat cell proliferation	ISS	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071466	cellular response to xenobiotic stimulus	IEA	biological process
GO:0071930	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:1990086	lens fiber cell apoptotic process	IEA	biological process
GO:1990090	cellular response to nerve growth factor stimulus	IEA	biological process
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IMP	biological process
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0001047	core promoter binding	IDA	molecular function
GO:0003677	DNA binding	IMP	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	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:0005634	nucleus	IDA	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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IMP	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0035189	Rb-E2F complex	IDA	cellular component
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048146	positive regulation of fibroblast proliferation	IMP	biological process
GO:0048255	mRNA stabilization	IDA	biological process
GO:0070345	negative regulation of fat cell proliferation	ISS	biological process
GO:0071930	negative regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal
hsa04110	Cell cycle
hsa04218	Cellular senescence
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05212	Pancreatic cancer
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05214	Glioma
hsa05220	Chronic myeloid leukemia
hsa05218	Melanoma
hsa05219	Bladder cancer
hsa05215	Prostate cancer
hsa05224	Breast cancer
hsa05222	Small cell lung cancer
hsa05223	Non-small cell lung cancer
hsa04934	Cushing syndrome
hsa05166	Human T-cell leukemia virus 1 infection
hsa05161	Hepatitis B
hsa05160	Hepatitis C
hsa05163	Human cytomegalovirus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05169	Epstein-Barr virus infection
hsa05165	Human papillomavirus infection
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Cancer (lung)	GAD: 12237873
Cancer (ovarian)	GAD: 19738611
Cancer	GAD: 12237873
Cancer (epithelial ovarian)	GAD: 19064572
Bone diseases	GAD: 19453261
Male factor infertility	MIK: 25439843
Non obstructive azoospermia	MIK: 25439843
Idiopathic nonobstructive azoospermia (INOA)	MIK: 23993922
Nonobstructive azoospermia (NOA)	MIK: 25439843
Spermatogenesis defects, Male infertility	MIK: 26311345

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25439843	Nonobstructive azoospermia (NOA)			188 (110 with NOA, 78 fertile controls.)	Male infertility
23993922	Idiopathic nonobstructive azoospermia (INOA)	rs189037(G>A)		465 (229 INOA patients, 236 fertile male controls)	Male infertility	ATM gene promoter E2F1
26311345	Spermatogenesis defects, Male infertility				Male infertility