PRIM1
DNA primase small subunit
Also known as: PRI1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P49642
- Gene
- PRIM1
- Ensembl
- ENSG00000198056
- Chromosome
- 12
- Canonical length
- 420 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
420 residues, UniProt reviewed canonical sequence.
>P49642|PRIM1
1 METFDPTELP ELLKLYYRRL FPYSQYYRWL NYGGVIKNYF QHREFSFTLK DDIYIRYQSF
61 NNQSDLEKEM QKMNPYKIDI GAVYSHRPNQ HNTVKLGAFQ AQEKELVFDI DMTDYDDVRR
121 CCSSADICPK CWTLMTMAIR IIDRALKEDF GFKHRLWVYS GRRGVHCWVC DESVRKLSSA
181 VRSGIVEYLS LVKGGQDVKK KVHLSEKIHP FIRKSINIIK KYFEEYALVN QDILENKESW
241 DKILALVPET IHDELQQSFQ KSHNSLQRWE HLKKVASRYQ NNIKNDKYGP WLEWEIMLQY
301 CFPRLDINVS KGINHLLKSP FSVHPKTGRI SVPIDLQKVD QFDPFTVPTI SFICRELDAI
361 STNEEEKEEN EAESDVKHRT RDYKKTSLAP YVKVFEHFLE NLDKSRKGEL LKKSDLQKDFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PRIM1 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)
- 0.25
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 26 nTPM
- thymus: 15 nTPM
- testis: 11 nTPM
- tonsil: 11 nTPM
- lymph node: 10 nTPM
- rectum: 9.6 nTPM
Single-cell type
- early primary spermatocytes: 165 nCPM
- differentiating spermatogonia: 84 nCPM
- erythrocyte progenitors: 67 nCPM
- megakaryocyte progenitors: 43 nCPM
- oocytes: 41 nCPM
- megakaryocyte-erythroid progenitors: 31 nCPM
Immune cell
- naive CD4 T-cell: 11 nTPM
- naive B-cell: 8.9 nTPM
- memory B-cell: 8.3 nTPM
- naive CD8 T-cell: 8.2 nTPM
- memory CD4 T-cell: 8 nTPM
- T-reg: 7.5 nTPM
Brain region
- cerebellum: 9.9 nTPM
- white matter: 7.5 nTPM
- basal ganglia: 5.7 nTPM
- cerebral cortex: 5.4 nTPM
- pons: 5.3 nTPM
- medulla oblongata: 5.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PRIM1.
Disease | AllUniProt
Conditions PRIM1 is implicated in, by any mechanism.
- Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) MIM:620005
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 64 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- Seckel syndrome
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)
- 0.69
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.05
- DepMap mean gene effect
- -1.77
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA-directed RNA polymerase activity
- magnesium ion binding
- zinc ion binding
- ribonucleotide binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DNA primase, small subunit
- DNA primase small subunit
- DNA primase, small subunit, eukaryotic/archaeal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PRIM1 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 PRIM1 as an antibody target. Whether an autoantibody or antibody against PRIM1 could matter depends on whether native PRIM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PRIM1 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 PRIM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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