ELL3 elongation factor for RNA polymerase II 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELL3provided by HGNC
Official Full Name: elongation factor for RNA polymerase II 3provided by HGNC
Primary source: HGNC:HGNC:23113
See related: Ensembl:ENSG00000128886 MIM:609885; AllianceGenome:HGNC:23113
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of DNA-templated transcription and transcription by RNA polymerase II. Located in several cellular components, including chromosome; cytosol; and nuclear lumen. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 75.8), prostate (RPKM 58.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (43772620..43776966, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (41579980..41584326, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (44064818..44069164, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Suppression of Ell3 expression induced senescence in stem cells by increasing Bcl-2 expression. Unlike the effect of Ell3 suppression, the ectopic expression of Ell3 induces apoptosis of stem cells and induces apoptosis of adjacent cells.
Title: Ell3 functions as a critical decision maker at the crossroad between stem cell senescence and apoptosis.
Authors demonstrated that ER(alpha), GATA3 and FOXA1 form a transcriptional complex with Ell3 to regulate IL-20 expression in ER(+) breast cancer cells. FOXA1 represses IL-20 expression, whereas GATA3 and ER(alpha) activate it.
Title: A transcriptional complex composed of ER(α), GATA3, FOXA1 and ELL3 regulates IL-20 expression in breast cancer cells.
Selective expression of the transcription elongation factor ELL3 in B cells prior to ELL2 drives proliferation and survival
Title: Selective expression of the transcription elongation factor ELL3 in B cells prior to ELL2 drives proliferation and survival.
Ell3 stabilizes p53 following cisplatin treatment via its effects on ubiquitin-dependent and -independent proteasomal degradation pathways in breast cancer cells.
Title: Ell3 stabilizes p53 following CDDP treatment via its effects on ubiquitin-dependent and -independent proteasomal degradation pathways in breast cancer cells.
Ell3 may play a critical role in promoting oncogenesis in breast cancer by regulating cell proliferation and cancer stem cell properties via the ERK1/2 signaling pathway
Title: Ell3 stimulates proliferation, drug resistance, and cancer stem cell properties of breast cancer cells via a MEK/ERK-dependent signaling pathway.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD04629 (e-PCR)
- UniSTS:285700

G59551 (e-PCR)
- UniSTS:136713

ECD05157 (e-PCR)
- UniSTS:286223

REN37612 (e-PCR)
- UniSTS:362412

REN37613 (e-PCR)
- UniSTS:362413

REN37614 (e-PCR)
- UniSTS:362414

REN37615 (e-PCR)
- UniSTS:362415

REN37616 (e-PCR)
- UniSTS:362416

REN37617 (e-PCR)
- UniSTS:362417

D2S2909 (e-PCR)
- UniSTS:41137

REN37618 (e-PCR)
- UniSTS:362418

REN37619 (e-PCR)
- UniSTS:362419

REN37620 (e-PCR)
- UniSTS:362420

REN37621 (e-PCR)
- UniSTS:362421

REN37622 (e-PCR)
- UniSTS:362422

REN37623 (e-PCR)
- UniSTS:362423

REN37624 (e-PCR)
- UniSTS:362424

REN37625 (e-PCR)
- UniSTS:362425

REN37626 (e-PCR)
- UniSTS:362426

REN37627 (e-PCR)
- UniSTS:362427

REN37628 (e-PCR)
- UniSTS:362428

REN37629 (e-PCR)
- UniSTS:362429

REN37630 (e-PCR)
- UniSTS:362430

REN37631 (e-PCR)
- UniSTS:362431

REN37632 (e-PCR)
- UniSTS:362432

REN37633 (e-PCR)
- UniSTS:362433

REN37634 (e-PCR)
- UniSTS:362434

REN37635 (e-PCR)
- UniSTS:362435

REN37636 (e-PCR)
- UniSTS:362436

REN37637 (e-PCR)
- UniSTS:362437

REN37638 (e-PCR)
- UniSTS:362438

ECD02235 (e-PCR)
- UniSTS:283335

stSG627941 (e-PCR)
- UniSTS:457933

stSG627942 (e-PCR)
- UniSTS:457934

stSG627943 (e-PCR)
- UniSTS:457935

ECD03548 (e-PCR)
- UniSTS:284629

ECD00217 (e-PCR)
- UniSTS:281331

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription, elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in snRNA transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcription elongation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in chromosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription elongation factor complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: RNA polymerase II elongation factor ELL3

Names: elongation factor RNA polymerase II-like 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.