Seroatlas · Human Serome Atlas

POLA1

DNA polymerase alpha catalytic subunit

Also known as: DPOLA_HUMAN, NSX, p180, POLA

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

Protein identityUniProt · HPA

UniProt accession: P09884
Gene: POLA1
Ensembl: ENSG00000101868
Chromosome: X
Canonical length: 1462 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

1462 residues, UniProt reviewed canonical sequence.

>P09884|POLA1
     1  MAPVHGDDSL SDSGSFVSSR ARREKKSKKG RQEALERLKK AKAGEKYKYE VEDFTGVYEE
    61  VDEEQYSKLV QARQDDDWIV DDDGIGYVED GREIFDDDLE DDALDADEKG KDGKARNKDK
   121  RNVKKLAVTK PNNIKSMFIA CAGKKTADKA VDLSKDGLLG DILQDLNTET PQITPPPVMI
   181  LKKKRSIGAS PNPFSVHTAT AVPSGKIASP VSRKEPPLTP VPLKRAEFAG DDVQVESTEE
   241  EQESGAMEFE DGDFDEPMEV EEVDLEPMAA KAWDKESEPA EEVKQEADSG KGTVSYLGSF
   301  LPDVSCWDID QEGDSSFSVQ EVQVDSSHLP LVKGADEEQV FHFYWLDAYE DQYNQPGVVF
   361  LFGKVWIESA ETHVSCCVMV KNIERTLYFL PREMKIDLNT GKETGTPISM KDVYEEFDEK
   421  IATKYKIMKF KSKPVEKNYA FEIPDVPEKS EYLEVKYSAE MPQLPQDLKG ETFSHVFGTN
   481  TSSLELFLMN RKIKGPCWLE VKSPQLLNQP VSWCKVEAMA LKPDLVNVIK DVSPPPLVVM
   541  AFSMKTMQNA KNHQNEIIAM AALVHHSFAL DKAAPKPPFQ SHFCVVSKPK DCIFPYAFKE
   601  VIEKKNVKVE VAATERTLLG FFLAKVHKID PDIIVGHNIY GFELEVLLQR INVCKAPHWS
   661  KIGRLKRSNM PKLGGRSGFG ERNATCGRMI CDVEISAKEL IRCKSYHLSE LVQQILKTER
   721  VVIPMENIQN MYSESSQLLY LLEHTWKDAK FILQIMCELN VLPLALQITN IAGNIMSRTL
   781  MGGRSERNEF LLLHAFYENN YIVPDKQIFR KPQQKLGDED EEIDGDTNKY KKGRKKAAYA
   841  GGLVLDPKVG FYDKFILLLD FNSLYPSIIQ EFNICFTTVQ RVASEAQKVT EDGEQEQIPE
   901  LPDPSLEMGI LPREIRKLVE RRKQVKQLMK QQDLNPDLIL QYDIRQKALK LTANSMYGCL
   961  GFSYSRFYAK PLAALVTYKG REILMHTKEM VQKMNLEVIY GDTDSIMINT NSTNLEEVFK
  1021  LGNKVKSEVN KLYKLLEIDI DGVFKSLLLL KKKKYAALVV EPTSDGNYVT KQELKGLDIV
  1081  RRDWCDLAKD TGNFVIGQIL SDQSRDTIVE NIQKRLIEIG ENVLNGSVPV SQFEINKALT
  1141  KDPQDYPDKK SLPHVHVALW INSQGGRKVK AGDTVSYVIC QDGSNLTASQ RAYAPEQLQK
  1201  QDNLTIDTQY YLAQQIHPVV ARICEPIDGI DAVLIATWLG LDPTQFRVHH YHKDEENDAL
  1261  LGGPAQLTDE EKYRDCERFK CPCPTCGTEN IYDNVFDGSG TDMEPSLYRC SNIDCKASPL
  1321  TFTVQLSNKL IMDIRRFIKK YYDGWLICEE PTCRNRTRHL PLQFSRTGPL CPACMKATLQ
  1381  PEYSDKSLYT QLCFYRYIFD AECALEKLTT DHEKDKLKKQ FFTPKVLQDY RKLKNTAEQF
  1441  LSRSGYSEVN LSKLFAGCAV KS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLA1 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: 11 nTPM

Expression across tissuesHPA

Tissue

thymus: 11 nTPM
tonsil: 7.2 nTPM
bone marrow: 6.9 nTPM
lymph node: 6.4 nTPM
placenta: 5.2 nTPM
rectum: 5 nTPM

Single-cell type

erythrocyte progenitors: 263 nCPM
myonuclei: 174 nCPM
monocyte progenitors: 164 nCPM
megakaryocyte progenitors: 158 nCPM
neutrophil progenitors: 136 nCPM
rod photoreceptor cells: 135 nCPM

Immune cell

intermediate monocyte: 1.4 nTPM
memory B-cell: 1 nTPM
memory CD8 T-cell: 1 nTPM
memory CD4 T-cell: 0.9 nTPM
T-reg: 0.9 nTPM
MAIT T-cell: 0.8 nTPM

Brain region

white matter: 5.4 nTPM
basal ganglia: 5.3 nTPM
medulla oblongata: 5.2 nTPM
midbrain: 4.9 nTPM
cerebellum: 4.8 nTPM
spinal cord: 4.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLA1.

Disease | AllUniProt

Conditions POLA1 is implicated in, by any mechanism.

Pigmentary disorder, reticulate, with systemic manifestations, X-linked (PDR) MIM:301220
Van Esch-O'Driscoll syndrome (VEODS) MIM:301030

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 1,100 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked intellectual disability, van Esch type
Inherited aplastic anemia
X-linked reticulate pigmentary disorder
Thyroid cancer, nonmedullary, 1
Myopia 25, autosomal dominant

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): 0.05
gnomAD pLI: 1
gnomAD missense Z: 1.99
DepMap mean gene effect: -0.89
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

DNA-directed DNA polymerase, family B, exonuclease domain
DNA-directed DNA polymerase, family B, multifunctional domain
DNA-directed DNA polymerase, family B
Ribonuclease H-like superfamily
DNA-directed DNA polymerase, family B, conserved site
DNA polymerase, palm domain superfamily
Ribonuclease H superfamily
DNA polymerase family B, thumb domain
DNA/RNA polymerase superfamily
DNA polymerase family B
DNA polymerase family B, exonuclease domain
Zinc finger, DNA-directed DNA polymerase, family B, alpha
DNA polymerase alpha catalytic subunit, N-terminal domain
DNA polymerase alpha, zinc finger domain superfamily
DNA polymerase alpha catalytic subunit, catalytic domain
DNA Polymerase alpha zinc finger
DNA polymerase alpha subunit p180 N terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POLA1 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 POLA1 as an antibody target. Whether an autoantibody or antibody against POLA1 could matter depends on whether native POLA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POLA1 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 POLA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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