LEO1
RNA polymerase-associated protein LEO1
Also known as: LEO1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WVC0
- Gene
- LEO1
- Ensembl
- ENSG00000166477
- Chromosome
- 15
- Canonical length
- 666 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center,Centrosome
OverviewNCBI Gene
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., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
666 residues, UniProt reviewed canonical sequence.
>Q8WVC0|LEO1
1 MADMEDLFGS DADSEAERKD SDSGSDSDSD QENAASGSNA SGSESDQDER GDSGQPSNKE
61 LFGDDSEDEG ASHHSGSDNH SERSDNRSEA SERSDHEDND PSDVDQHSGS EAPNDDEDEG
121 HRSDGGSHHS EAEGSEKAHS DDEKWGREDK SDQSDDEKIQ NSDDEERAQG SDEDKLQNSD
181 DDEKMQNTDD EERPQLSDDE RQQLSEEEKA NSDDERPVAS DNDDEKQNSD DEEQPQLSDE
241 EKMQNSDDER PQASDEEHRH SDDEEEQDHK SESARGSDSE DEVLRMKRKN AIASDSEADS
301 DTEVPKDNSG TMDLFGGADD ISSGSDGEDK PPTPGQPVDE NGLPQDQQEE EPIPETRIEV
361 EIPKVNTDLG NDLYFVKLPN FLSVEPRPFD PQYYEDEFED EEMLDEEGRT RLKLKVENTI
421 RWRIRRDEEG NEIKESNARI VKWSDGSMSL HLGNEVFDVY KAPLQGDHNH LFIRQGTGLQ
481 GQAVFKTKLT FRPHSTDSAT HRKMTLSLAD RCSKTQKIRI LPMAGRDPEC QRTEMIKKEE
541 ERLRASIRRE SQQRRMREKQ HQRGLSASYL EPDRYDEEEE GEESISLAAI KNRYKGGIRE
601 ERARIYSSDS DEGSEEDKAQ RLLKAKKLTS DEEGEPSGKR KAEDDDKANK KHKKYVISDE
661 EEEDDDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LEO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- liver: 21 nTPM
- thymus: 21 nTPM
- skin: 20 nTPM
- esophagus: 19 nTPM
- rectum: 18 nTPM
- salivary gland: 18 nTPM
Single-cell type
- mast cells: 244 nCPM
- epicardial cells: 237 nCPM
- esophageal apical cells: 78 nCPM
- esophageal suprabasal cells: 62 nCPM
- respiratory ionocytes: 61 nCPM
- esophageal basal cells: 56 nCPM
Immune cell
- T-reg: 32 nTPM
- NK-cell: 31 nTPM
- naive CD4 T-cell: 28 nTPM
- gdT-cell: 27 nTPM
- memory CD4 T-cell: 27 nTPM
- non-classical monocyte: 26 nTPM
Brain region
- cerebellum: 29 nTPM
- cerebral cortex: 21 nTPM
- hypothalamus: 19 nTPM
- white matter: 19 nTPM
- basal ganglia: 16 nTPM
- thalamus: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LEO1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 106 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.35
- gnomAD pLI
- 0.87
- gnomAD missense Z
- 2.34
- DepMap mean gene effect
- -0.26
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endodermal cell fate commitment
- mRNA 3'-end processing
- negative regulation of myeloid cell differentiation
- positive regulation of transcription by RNA polymerase II
- positive regulation of transcription elongation by RNA polymerase II
- stem cell population maintenance
- transcription elongation by RNA polymerase II
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Leo1-like protein
- Leo1-like protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LEO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LEO1 as an antibody target. Whether an autoantibody or antibody against LEO1 could matter depends on whether native LEO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LEO1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LEO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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