Seroatlas · Human Serome Atlas

POLD1

DNA polymerase delta catalytic subunit

Also known as: CDC2, DPOD1_HUMAN, POLD

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

Protein identityUniProt · HPA

UniProt accession: P28340
Gene: POLD1
Ensembl: ENSG00000062822
Chromosome: 19
Canonical length: 1107 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

1107 residues, UniProt reviewed canonical sequence.

>P28340|POLD1
     1  MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS
    61  VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG
   121  SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR
   181  ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS
   241  FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP
   301  EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC
   361  APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF
   421  LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH
   481  FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG
   541  VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT
   601  LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL
   661  ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV
   721  TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD
   781  WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV
   841  ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH
   901  VELAERMRKR DPGSAPSLGD RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ
   961  QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS
  1021  HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY
  1081  MRKKVRKDLE DQEQLLRRFG PPGPEAW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLD1 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): 0.26
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 19 nTPM
testis: 11 nTPM
spleen: 9.6 nTPM
esophagus: 8.8 nTPM
thymus: 8.2 nTPM
skin: 7.4 nTPM

Single-cell type

differentiating spermatogonia: 31 nCPM
erythrocyte progenitors: 28 nCPM
tuft cells: 23 nCPM
megakaryocyte progenitors: 22 nCPM
monocyte progenitors: 21 nCPM
early primary spermatocytes: 21 nCPM

Immune cell

non-classical monocyte: 6.7 nTPM
plasmacytoid DC: 6.6 nTPM
intermediate monocyte: 5.3 nTPM
naive B-cell: 5.1 nTPM
memory B-cell: 4.7 nTPM
NK-cell: 4.1 nTPM

Brain region

medulla oblongata: 6.8 nTPM
thalamus: 5.7 nTPM
white matter: 5.4 nTPM
cerebellum: 5 nTPM
pons: 5 nTPM
midbrain: 4.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLD1.

Disease | AllUniProt

Conditions POLD1 is implicated in, by any mechanism.

Colorectal cancer 10 (CRCS10) MIM:612591
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) MIM:615381
Immunodeficiency 120 (IMD120) MIM:620836

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 5,831 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Colorectal cancer, susceptibility to, 10
Hereditary cancer-predisposing syndrome
Mandibular hypoplasia-deafness-progeroid syndrome
POLD1-related disorder
Embryonal rhabdomyosarcoma

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): 0.53
gnomAD pLI: 0
gnomAD missense Z: 2.46
DepMap mean gene effect: -2.17
DepMap dependency class: pan

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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POLD1 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 POLD1 as an antibody target. Whether an autoantibody or antibody against POLD1 could matter depends on whether native POLD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POLD1 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 POLD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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