Seroatlas · Human Serome Atlas

PRIMPOL

DNA-directed primase/polymerase protein

Also known as: CCDC111, FLJ33167, PRIPO_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96LW4
Gene: PRIMPOL
Ensembl: ENSG00000164306
Chromosome: 4
Canonical length: 560 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

560 residues, UniProt reviewed canonical sequence.

>Q96LW4|PRIMPOL
     1  MNRKWEAKLK QIEERASHYE RKPLSSVYRP RLSKPEEPPS IWRLFHRQAQ AFNFVKSCKE
    61  DVHVFALECK VGDGQRIYLV TTYAEFWFYY KSRKNLLHCY EVIPENAVCK LYFDLEFNKP
   121  ANPGADGKKM VALLIEYVCK ALQELYGVNC SAEDVLNLDS STDEKFSRHL IFQLHDVAFK
   181  DNIHVGNFLR KILQPALDLL GSEDDDSAPE TTGHGFPHFS EAPARQGFSF NKMFTEKATE
   241  ESWTSNSKKL ERLGSAEQSS PDLSFLVVKN NMGEKHLFVD LGVYTRNRNF RLYKSSKIGK
   301  RVALEVTEDN KFFPIQSKDV SDEYQYFLSS LVSNVRFSDT LRILTCEPSQ NKQKGVGYFN
   361  SIGTSVETIE GFQCSPYPEV DHFVLSLVNK DGIKGGIRRW NYFFPEELLV YDICKYRWCE
   421  NIGRAHKSNN IMILVDLKNE VWYQKCHDPV CKAENFKSDC FPLPAEVCLL FLFKEEEEFT
   481  TDEADETRSN ETQNPHKPSP SRLSTGASAD AVWDNGIDDA YFLEATEDAE LAEAAENSLL
   541  SYNSEVDEIP DELIIEVLQE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRIMPOL 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): 0.4
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

ovary: 11 nTPM
endometrium: 10 nTPM
smooth muscle: 8.6 nTPM
fallopian tube: 8.4 nTPM
breast: 8.3 nTPM
rectum: 8.1 nTPM

Single-cell type

goblet cells: 101 nCPM
fibro-adipogenic progenitors: 70 nCPM
myonuclei: 67 nCPM
breast lactating cells: 66 nCPM
thyrotrophs: 65 nCPM
lactotrophs: 61 nCPM

Immune cell

eosinophil: 24 nTPM
basophil: 11 nTPM
MAIT T-cell: 5.6 nTPM
non-classical monocyte: 5.6 nTPM
NK-cell: 4.7 nTPM
T-reg: 4.6 nTPM

Brain region

cerebellum: 15 nTPM
white matter: 11 nTPM
basal ganglia: 9.2 nTPM
choroid plexus: 8.3 nTPM
thalamus: 8.3 nTPM
medulla oblongata: 8.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRIMPOL.

Disease | AllUniProt

Conditions PRIMPOL is implicated in, by any mechanism.

Myopia 22, autosomal dominant (MYP22) MIM:615420

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): 1.33
gnomAD pLI: 0
gnomAD missense Z: -0.3
DepMap mean gene effect: 0.2
DepMap dependency class: none

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

DNA primase, small subunit
DNA primase small subunit
DNA-directed primase/polymerase protein
Herpesviridae UL52/UL70 DNA primase

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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