Seroatlas · Human Serome Atlas

POLR1A

DNA-directed RNA polymerase I subunit RPA1

Also known as: DKFZP586M0122, FLJ21915, RPA1, RPA1_HUMAN, RPA190, RPO1-4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O95602
Gene: POLR1A
Ensembl: ENSG00000068654
Chromosome: 2
Canonical length: 1720 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, RNA polymerase related proteins
Subcellular location: Nucleoplasm,Nucleoli fibrillar center,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

Canonical amino-acid sequenceUniProt

1720 residues, UniProt reviewed canonical sequence.

>O95602|POLR1A
     1  MLISKNMPWR RLQGISFGMY SAEELKKLSV KSITNPRYLD SLGNPSANGL YDLALGPADS
    61  KEVCSTCVQD FSNCSGHLGH IELPLTVYNP LLFDKLYLLL RGSCLNCHML TCPRAVIHLL
   121  LCQLRVLEVG ALQAVYELER ILNRFLEENP DPSASEIREE LEQYTTEIVQ NNLLGSQGAH
   181  VKNVCESKSK LIALFWKAHM NAKRCPHCKT GRSVVRKEHN SKLTITFPAM VHRTAGQKDS
   241  EPLGIEEAQI GKRGYLTPTS AREHLSALWK NEGFFLNYLF SGMDDDGMES RFNPSVFFLD
   301  FLVVPPSRYR PVSRLGDQMF TNGQTVNLQA VMKDVVLIRK LLALMAQEQK LPEEVATPTT
   361  DEEKDSLIAI DRSFLSTLPG QSLIDKLYNI WIRLQSHVNI VFDSEMDKLM MDKYPGIRQI
   421  LEKKEGLFRK HMMGKRVDYA ARSVICPDMY INTNEIGIPM VFATKLTYPQ PVTPWNVQEL
   481  RQAVINGPNV HPGASMVINE DGSRTALSAV DMTQREAVAK QLLTPATGAP KPQGTKIVCR
   541  HVKNGDILLL NRQPTLHRPS IQAHRARILP EEKVLRLHYA NCKAYNADFD GDEMNAHFPQ
   601  SELGRAEAYV LACTDQQYLV PKDGQPLAGL IQDHMVSGAS MTTRGCFFTR EHYMELVYRG
   661  LTDKVGRVKL LSPSILKPFP LWTGKQVVST LLINIIPEDH IPLNLSGKAK ITGKAWVKET
   721  PRSVPGFNPD SMCESQVIIR EGELLCGVLD KAHYGSSAYG LVHCCYEIYG GETSGKVLTC
   781  LARLFTAYLQ LYRGFTLGVE DILVKPKADV KRQRIIEEST HCGPQAVRAA LNLPEAASYD
   841  EVRGKWQDAH LGKDQRDFNM IDLKFKEEVN HYSNEINKAC MPFGLHRQFP ENSLQMMVQS
   901  GAKGSTVNTM QISCLLGQIE LEGRRPPLMA SGKSLPCFEP YEFTPRAGGF VTGRFLTGIK
   961  PPEFFFHCMA GREGLVDTAV KTSRSGYLQR CIIKHLEGLV VQYDLTVRDS DGSVVQFLYG
  1021  EDGLDIPKTQ FLQPKQFPFL ASNYEVIMKS QHLHEVLSRA DPKKALHHFR AIKKWQSKHP
  1081  NTLLRRGAFL SYSQKIQEAV KALKLESENR NGRSPGTQEM LRMWYELDEE SRRKYQKKAA
  1141  ACPDPSLSVW RPDIYFASVS ETFETKVDDY SQEWAAQTEK SYEKSELSLD RLRTLLQLKW
  1201  QRSLCEPGEA VGLLAAQSIG EPSTQMTLNT FHFAGRGEMN VTLGIPRLRE ILMVASANIK
  1261  TPMMSVPVLN TKKALKRVKS LKKQLTRVCL GEVLQKIDVQ ESFCMEEKQN KFQVYQLRFQ
  1321  FLPHAYYQQE KCLRPEDILR FMETRFFKLL MESIKKKNNK ASAFRNVNTR RATQRDLDNA
  1381  GELGRSRGEQ EGDEEEEGHI VDAEAEEGDA DASDAKRKEK QEEEVDYESE EEEEREGEEN
  1441  DDEDMQEERN PHREGARKTQ EQDEEVGLGT EEDPSLPALL TQPRKPTHSQ EPQGPEAMER
  1501  RVQAVREIHP FIDDYQYDTE ESLWCQVTVK LPLMKINFDM SSLVVSLAHG AVIYATKGIT
  1561  RCLLNETTNN KNEKELVLNT EGINLPELFK YAEVLDLRRL YSNDIHAIAN TYGIEAALRV
  1621  IEKEIKDVFA VYGIAVDPRH LSLVADYMCF EGVYKPLNRF GIRSNSSPLQ QMTFETSFQF
  1681  LKQATMLGSH DELRSPSACL VVGKVVRGGT GLFELKQPLR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLR1A 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: 10 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 10 nTPM
endometrium: 8 nTPM
tongue: 6.9 nTPM
parathyroid gland: 6.7 nTPM
smooth muscle: 6.4 nTPM
esophagus: 5.8 nTPM

Single-cell type

erythrocyte progenitors: 65 nCPM
myonuclei: 64 nCPM
retinal pigment epithelial cells: 55 nCPM
alveolar cells type 1: 54 nCPM
choroid plexus epithelial cells: 53 nCPM
adrenal cortex cells: 50 nCPM

Immune cell

MAIT T-cell: 0.8 nTPM
gdT-cell: 0.7 nTPM
intermediate monocyte: 0.6 nTPM
memory CD8 T-cell: 0.6 nTPM
naive B-cell: 0.6 nTPM
plasmacytoid DC: 0.6 nTPM

Brain region

thalamus: 18 nTPM
cerebral cortex: 18 nTPM
choroid plexus: 17 nTPM
basal ganglia: 17 nTPM
hippocampal formation: 17 nTPM
white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLR1A.

Disease | AllUniProt

Conditions POLR1A is implicated in, by any mechanism.

Acrofacial dysostosis, Cincinnati type (AFDCIN) MIM:616462
Leukodystrophy, hypomyelinating, 27 (HLD27) MIM:620675

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 1,175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Acrofacial dysostosis Cincinnati type
Leukodystrophy, hypomyelinating, 27
POLR1A-related disorder

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): 0.26
gnomAD pLI: 1
gnomAD missense Z: 2.95
DepMap mean gene effect: -1.34
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

RNA polymerase, alpha subunit
RNA polymerase, N-terminal
RNA polymerase Rpb1, domain 3
RNA polymerase Rpb1, domain 1
RNA polymerase Rpb1, domain 5
RNA polymerase Rpb1, domain 4
RNA polymerase Rpb1, funnel domain superfamily
RNA polymerase Rpb1, domain 3 superfamily
RNA polymerase Rpb1, clamp domain superfamily
DNA-directed RNA polymerase, subunit beta-prime
RNA polymerase Rpb1, domain 2
RNA polymerase Rpb1, domain 3
RNA polymerase Rpb1, domain 1
RNA polymerase Rpb1, domain 5
RNA polymerase Rpb1, domain 4
DNA-directed RNA pol I, largest subunit, N-terminal domain
DNA-directed RNA pol I, largest subunit, C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POLR1A 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 POLR1A as an antibody target. Whether an autoantibody or antibody against POLR1A could matter depends on whether native POLR1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POLR1A 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 POLR1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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