Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1877
Gene name	E4F transcription factor 1
Gene symbol	E4F1
Synonyms (NCBI Gene)	E4F
Chromosome	16
Chromosome location	16p13.3
Summary	The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein throug

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049823	hsa-miR-92a-3p	CLASH	23622248
MIRT048699	hsa-miR-99a-5p	CLASH	23622248

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	14645522, 16652157
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	2169022
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	16652157
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	9121437, 10869426
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	10869426, 12730668, 14729613, 17557114, 21666599
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009794	Process	Regulation of mitotic cell cycle, embryonic	IEA
GO:0010564	Process	Regulation of cell cycle process	IDA	14645522
GO:0010564	Process	Regulation of cell cycle process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0035497	Function	CAMP response element binding	IDA	14645522
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9121437
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051726	Process	Regulation of cell cycle	TAS	14645522
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	14645522
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
603022	3121	ENSG00000167967

Q66K89

Protein name

Transcription factor E4F1 (EC 2.3.2.27) (E4F transcription factor 1) (Putative E3 ubiquitin-protein ligase E4F1) (RING-type E3 ubiquitin transferase E4F1) (Transcription factor E4F) (p120E4F) (p50E4F)

Protein function

May function as a transcriptional repressor. May also function as a ubiquitin ligase mediating ubiquitination of chromatin-associated TP53. Functions in cell survival and proliferation through control of the cell cycle. Functions in the p53 and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13912	zf-C2H2_6	191 → 217		Domain
PF00096	zf-C2H2	220 → 242	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	248 → 269	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	435 → 457	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	463 → 485	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	519 → 541	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:9530632}.

Sequence

MEGAMAVRVTAAHTAEAQAEAGREAGEGAVAAVAAALAPSGFLGLPAPFSEEDEDDVHRC
GRCQAEFTALEDFVQHKIQKACQRAPPEALPATPATTALLGQEVVPAAPGPEEPITVAHI
VVEAASLAADISHASDLVGGGHIKEVIVAAEAELGDGEMAEAPGSPRQQGLGLAGEGEQA
QVKLLVNKDGRYVCALCHKTFKTGSILKAHMVTHSSRKDHECKLCGASFRTKGSLIRHHR
RHTDERPYKCSKCGKSFRESGALTRHLKSLTPCTEKIRFSVSKDVVVSKEDARAGSGAGA
AGLGTATSSVTGEPIETSPVIHLVTDAKGTVIHEVHVQMQELSLGMKALAPEPPVSQELP
CSSEGSRENLLHQAMQNSGIVLERAAGEEGALEPAPAAGSSPQPLAVAAPQLPVLEVQPL
ETQVASEASAVPRTHPCPQCSETFPTAATLEAHKRGHTGPRPFACAQCGKAFPKAYLLKK
HQEVHVRERRFRCGDCGKLYKTIAHVRGHRRVHSDERPYPCPKCGKRYKTKNAQQVHFRT
HLEEKPHVCQFCSRGFREKGSLVRHVRHHTGEKPFKCYKCGRGFAEHGTLNRHLRTKGGC
LLEVEELLVSEDSPAAATTVLTEDPHTVLVEFSSVVADTQEYIIEATADDAETSEATEII
EGTQTEVDSHIMKVVQQIVHQASAGHQIIVQNVTMDEETALGPEAAAADTITIATPESLT
EQVAMTLASAISEGTVLAARAGTSGTEQATVTMVSSEDIEILEHAGELVIASPEGQLEVQ
TVIV

Sequence length

784

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atherosclerosis	Atherosclerosis	Pubtator	15579445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33692124, 37081749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33618227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37081749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35340126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	26968897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26968897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21708927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	25843717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37081749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

E4F1 (E4F transcription factor 1)