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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	123169
Gene name	LEO1 component of Paf1/RNA polymerase II complex
Gene symbol	LEO1
Synonyms (NCBI Gene)	RDL
Chromosome	15
Chromosome location	15q21.2
Summary	LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 200

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2029682	hsa-miR-3163	CLIP-seq
MIRT2029683	hsa-miR-338-5p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0001711	Process	Endodermal cell fate commitment	IEA
GO:0001711	Process	Endodermal cell fate commitment	ISS
GO:0005515	Function	Protein binding	IPI	15923622, 16024656, 16630820, 19136632, 19410543, 20178742, 24981860, 25416956, 26496610, 29774127, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005813	Component	Centrosome	IDA
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	20178742
GO:0006368	Process	Transcription elongation by RNA polymerase II	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016593	Component	Cdc73/Paf1 complex	IDA	16307923, 18987311, 20178742
GO:0016593	Component	Cdc73/Paf1 complex	IEA
GO:0019827	Process	Stem cell population maintenance	IDA	19345177
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0031124	Process	MRNA 3'-end processing	IMP	21329879
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IBA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IDA	20541477
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16307923
GO:1990269	Function	RNA polymerase II C-terminal domain phosphoserine binding	IBA

MIM	HGNC	e!Ensembl
610507	30401	ENSG00000166477

Q8WVC0

Protein name

RNA polymerase-associated protein LEO1 (Replicative senescence down-regulated leo1-like protein)

Protein function

Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase

PDB

4M6T , 6GMH , 6TED , 7OOP , 7OPC , 7OPD , 7UNC , 7UND , 8A3Y , 9EGX , 9EGY , 9EGZ , 9EH0 , 9EH2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04004	Leo1	374 → 536	Leo1-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle and heart. Weakly expressed in placenta and liver. {ECO:0000269|PubMed:15791002}.

Sequence

MADMEDLFGSDADSEAERKDSDSGSDSDSDQENAASGSNASGSESDQDERGDSGQPSNKE
LFGDDSEDEGASHHSGSDNHSERSDNRSEASERSDHEDNDPSDVDQHSGSEAPNDDEDEG
HRSDGGSHHSEAEGSEKAHSDDEKWGREDKSDQSDDEKIQNSDDEERAQGSDEDKLQNSD
DDEKMQNTDDEERPQLSDDERQQLSEEEKANSDDERPVASDNDDEKQNSDDEEQPQLSDE
EKMQNSDDERPQASDEEHRHSDDEEEQDHKSESARGSDSEDEVLRMKRKNAIASDSEADS
DTEVPKDNSGTMDLFGGADDISSGSDGEDKPPTPGQPVDENGLPQDQQEEEPIPETRIEV
EIPKVNTDLGNDLYFVKLPNFLSVEPRPFDPQYYEDEFEDEEMLDEEGRTRLKLKVENTI
RWRIRRDEEGNEIKESNARIVKWSDGSMSLHLGNEVFDVYKAPLQGDHNHLFIRQGTGLQ
GQAVFKTKLTFRPHSTDSATHRKMTLSLADRCSKTQKIRILPMAGRDPECQRTEMIKKEE
ERLRASIRRESQQRRMREKQHQRGLSASYLEPDRYDEEEEGEESISLAAIKNRYKGGIRE
ERARIYSSDSDEGSEEDKAQRLLKAKKLTSDEEGEPSGKRKAEDDDKANKKHKKYVISDE
EEEDDD

Sequence length

666

Interactions

View interactions

	Reactome
			Formation of RNA Pol II elongation complex Formation of the beta-catenin:TCF transactivating complex RNA Polymerase II Pre-transcription Events RNA Polymerase II Transcription Elongation E3 ubiquitin ligases ubiquitinate target proteins

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2542537853	RCV003991615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEO1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31375661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	34096589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33004838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31375661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24686170		★★★★★ ★☆☆☆☆ Found in Text Mining only

LEO1 (LEO1 component of Paf1/RNA polymerase II complex)