Seroatlas · Human Serome Atlas

POLR2A

DNA-directed RNA polymerase II subunit RPB1

Also known as: RPB1_HUMAN

Cross-references: UniProt · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P24928
Gene: POLR2A
Canonical length: 1970 aa
Protein class: Human disease related genes, Metabolic proteins, Predicted intracellular proteins, RNA polymerase related proteins

OverviewNCBI Gene

No narrative summary is available for POLR2A in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

1970 residues, UniProt reviewed canonical sequence.

>P24928|POLR2A
     1  MHGGGPPSGD SACPLRTIKR VQFGVLSPDE LKRMSVTEGG IKYPETTEGG RPKLGGLMDP
    61  RQGVIERTGR CQTCAGNMTE CPGHFGHIEL AKPVFHVGFL VKTMKVLRCV CFFCSKLLVD
   121  SNNPKIKDIL AKSKGQPKKR LTHVYDLCKG KNICEGGEEM DNKFGVEQPE GDEDLTKEKG
   181  HGGCGRYQPR IRRSGLELYA EWKHVNEDSQ EKKILLSPER VHEIFKRISD EECFVLGMEP
   241  RYARPEWMIV TVLPVPPLSV RPAVVMQGSA RNQDDLTHKL ADIVKINNQL RRNEQNGAAA
   301  HVIAEDVKLL QFHVATMVDN ELPGLPRAMQ KSGRPLKSLK QRLKGKEGRV RGNLMGKRVD
   361  FSARTVITPD PNLSIDQVGV PRSIAANMTF AEIVTPFNID RLQELVRRGN SQYPGAKYII
   421  RDNGDRIDLR FHPKPSDLHL QTGYKVERHM CDGDIVIFNR QPTLHKMSMM GHRVRILPWS
   481  TFRLNLSVTT PYNADFDGDE MNLHLPQSLE TRAEIQELAM VPRMIVTPQS NRPVMGIVQD
   541  TLTAVRKFTK RDVFLERGEV MNLLMFLSTW DGKVPQPAIL KPRPLWTGKQ IFSLIIPGHI
   601  NCIRTHSTHP DDEDSGPYKH ISPGDTKVVV ENGELIMGIL CKKSLGTSAG SLVHISYLEM
   661  GHDITRLFYS NIQTVINNWL LIEGHTIGIG DSIADSKTYQ DIQNTIKKAK QDVIEVIEKA
   721  HNNELEPTPG NTLRQTFENQ VNRILNDARD KTGSSAQKSL SEYNNFKSMV VSGAKGSKIN
   781  ISQVIAVVGQ QNVEGKRIPF GFKHRTLPHF IKDDYGPESR GFVENSYLAG LTPTEFFFHA
   841  MGGREGLIDT AVKTAETGYI QRRLIKSMES VMVKYDATVR NSINQVVQLR YGEDGLAGES
   901  VEFQNLATLK PSNKAFEKKF RFDYTNERAL RRTLQEDLVK DVLSNAHIQN ELEREFERMR
   961  EDREVLRVIF PTGDSKVVLP CNLLRMIWNA QKIFHINPRL PSDLHPIKVV EGVKELSKKL
  1021  VIVNGDDPLS RQAQENATLL FNIHLRSTLC SRRMAEEFRL SGEAFDWLLG EIESKFNQAI
  1081  AHPGEMVGAL AAQSLGEPAT QMTLNTFHYA GVSAKNVTLG VPRLKELINI SKKPKTPSLT
  1141  VFLLGQSARD AERAKDILCR LEHTTLRKVT ANTAIYYDPN PQSTVVAEDQ EWVNVYYEMP
  1201  DFDVARISPW LLRVELDRKH MTDRKLTMEQ IAEKINAGFG DDLNCIFNDD NAEKLVLRIR
  1261  IMNSDENKMQ EEEEVVDKMD DDVFLRCIES NMLTDMTLQG IEQISKVYMH LPQTDNKKKI
  1321  IITEDGEFKA LQEWILETDG VSLMRVLSEK DVDPVRTTSN DIVEIFTVLG IEAVRKALER
  1381  ELYHVISFDG SYVNYRHLAL LCDTMTCRGH LMAITRHGVN RQDTGPLMKC SFEETVDVLM
  1441  EAAAHGESDP MKGVSENIML GQLAPAGTGC FDLLLDAEKC KYGMEIPTNI PGLGAAGPTG
  1501  MFFGSAPSPM GGISPAMTPW NQGATPAYGA WSPSVGSGMT PGAAGFSPSA ASDASGFSPG
  1561  YSPAWSPTPG SPGSPGPSSP YIPSPGGAMS PSYSPTSPAY EPRSPGGYTP QSPSYSPTSP
  1621  SYSPTSPSYS PTSPNYSPTS PSYSPTSPSY SPTSPSYSPT SPSYSPTSPS YSPTSPSYSP
  1681  TSPSYSPTSP SYSPTSPSYS PTSPSYSPTS PSYSPTSPSY SPTSPSYSPT SPSYSPTSPS
  1741  YSPTSPNYSP TSPNYTPTSP SYSPTSPSYS PTSPNYTPTS PNYSPTSPSY SPTSPSYSPT
  1801  SPSYSPSSPR YTPQSPTYTP SSPSYSPSSP SYSPASPKYT PTSPSYSPSS PEYTPTSPKY
  1861  SPTSPKYSPT SPKYSPTSPT YSPTTPKYSP TSPTYSPTSP VYTPTSPKYS PTSPTYSPTS
  1921  PKYSPTSPTY SPTSPKGSTY SPTSPGYSPT SPTYSLTSPA ISPDDSDEEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLR2A 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): 0.34
Highest tissue expression: 1.5 nTPM

Expression across tissuesHPA

Tissue

appendix: 1.5 nTPM
adrenal gland: 0.7 nTPM
cerebral cortex: 0.6 nTPM
testis: 0.6 nTPM
duodenum: 0.5 nTPM
skeletal muscle: 0.4 nTPM

Single-cell type

renal collecting duct intercalated cells: 92 nCPM
renal collecting duct principal cells: 80 nCPM
choroid plexus epithelial cells: 75 nCPM
loop of henle epithelial cells: 71 nCPM
podocytes: 66 nCPM
papillary tip epithelial cells: 62 nCPM

Immune cell

total PBMC: 10 nTPM
non-classical monocyte: 4.3 nTPM
T-reg: 3.2 nTPM
MAIT T-cell: 2.5 nTPM
myeloid DC: 2.3 nTPM
classical monocyte: 2.2 nTPM

Brain region

medulla oblongata: 5.2 nTPM
cerebral cortex: 3.9 nTPM
white matter: 3.6 nTPM
pons: 2.6 nTPM
thalamus: 2.3 nTPM
choroid plexus: 2.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLR2A.

Disease | AllUniProt

Conditions POLR2A is implicated in, by any mechanism.

Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) MIM:618603

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 561 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Inborn genetic diseases
Neurodevelopmental disorder
Severe global developmental delay

Disease | ImmuneIEDB

Conditions an epitope on POLR2A was assayed in.

systemic scleroderma B cell

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): 0.16
gnomAD pLI: 1
gnomAD missense Z: 7.13

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 II, heptapeptide repeat, eukaryotic
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
RNA polymerase Rpb1 C-terminal repeat
RNA polymerase Rpb1, domain 7
RNA polymerase Rpb1, domain 6
RNA polymerase Rpb1, domain 7 superfamily
RNA polymerase Rpb1, domain 7
RNA polymerase Rpb1, domain 6

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POLR2A 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 POLR2A as an antibody target. Whether an autoantibody or antibody against POLR2A could matter depends on whether native POLR2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POLR2A 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 POLR2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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