POLR1C
DNA-directed RNA polymerases I and III subunit RPAC1
Also known as: AC40, RPA39, RPA40, RPA5, RPAC1, RPAC1_HUMAN, RPC40
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15160
- Gene
- POLR1C
- Ensembl
- ENSG00000171453
- Chromosome
- 6
- Canonical length
- 346 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, RNA polymerase related proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI Gene
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Canonical amino-acid sequenceUniProt
346 residues, UniProt reviewed canonical sequence.
>O15160|POLR1C
1 MAASQAVEEM RSRVVLGEFG VRNVHTTDFP GNYSGYDDAW DQDRFEKNFR VDVVHMDENS
61 LEFDMVGIDA AIANAFRRIL LAEVPTMAVE KVLVYNNTSI VQDEILAHRL GLIPIHADPR
121 LFEYRNQGDE EGTEIDTLQF RLQVRCTRNP HAAKDSSDPN ELYVNHKVYT RHMTWIPLGN
181 QADLFPEGTI RPVHDDILIA QLRPGQEIDL LMHCVKGIGK DHAKFSPVAT ASYRLLPDIT
241 LLEPVEGEAA EELSRCFSPG VIEVQEVQGK KVARVANPRL DTFSREIFRN EKLKKVVRLA
301 RVRDHYIFSV ESTGVLPPDV LVSEAIKVLM GKCRRFLDEL DAVQMDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against POLR1C 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)
- 0.3
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 25 nTPM
- urinary bladder: 22 nTPM
- esophagus: 20 nTPM
- fallopian tube: 20 nTPM
- testis: 20 nTPM
- tonsil: 20 nTPM
Single-cell type
- epicardial cells: 237 nCPM
- cardiomyocytes: 206 nCPM
- differentiating spermatogonia: 97 nCPM
- basal keratinocytes: 78 nCPM
- respiratory ciliated cells: 74 nCPM
- oocytes: 69 nCPM
Immune cell
- naive B-cell: 55 nTPM
- naive CD4 T-cell: 55 nTPM
- memory B-cell: 51 nTPM
- naive CD8 T-cell: 50 nTPM
- MAIT T-cell: 47 nTPM
- myeloid DC: 42 nTPM
Brain region
- choroid plexus: 18 nTPM
- white matter: 11 nTPM
- cerebral cortex: 11 nTPM
- hypothalamus: 10 nTPM
- pons: 10 nTPM
- thalamus: 9.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about POLR1C.
Disease | AllUniProt
Conditions POLR1C is implicated in, by any mechanism.
- Treacher Collins syndrome 3 (TCS3) MIM:248390
- Leukodystrophy, hypomyelinating, 11 (HLD11) MIM:616494
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 287 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypomyelinating leukodystrophy 11
- Treacher Collins syndrome 3
- POLR1C-related disorder
- Inborn genetic diseases
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)
- 1.4
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.44
- DepMap mean gene effect
- -1.71
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 18% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DNA-directed RNA polymerase, 30-40kDa subunit, conserved site
- DNA-directed RNA polymerase, insert domain
- DNA-directed RNA polymerase, RpoA/D/Rpb3-type
- DNA-directed RNA polymerase subunit Rpo3/Rpb3/RPAC1
- RNA polymerase, RBP11-like subunit
- DNA-directed RNA polymerase, insert domain superfamily
- Archaeal Rpo3/Eukaryotic RPB3 RNA Polymerase Subunit
- RNA polymerase Rpb3/RpoA insert domain
- RNA polymerase Rpb3/Rpb11 dimerisation domain
- DNA-directed RNA polymerases I and III subunit AC40
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of POLR1C 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 POLR1C as an antibody target. Whether an autoantibody or antibody against POLR1C could matter depends on whether native POLR1C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
POLR1C 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 POLR1C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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