Gene Gene information from NCBI Gene database.
Entrez ID 5557
Gene name DNA primase subunit 1
Gene symbol PRIM1
Synonyms (NCBI Gene)
PDILp49
Chromosome 12
Chromosome location 12q13.3
Summary 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, s
miRNA miRNA information provided by mirtarbase database.
300
miRTarBase ID miRNA Experiments Reference
MIRT000896 hsa-miR-15a-5p Microarray 18362358
MIRT000895 hsa-miR-16-5p Microarray 18362358
MIRT001604 hsa-let-7b-5p pSILAC 18668040
MIRT016373 hsa-miR-193b-3p Microarray 20304954
MIRT024825 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 24043831
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0003899 Function DNA-directed RNA polymerase activity IBA
GO:0003899 Function DNA-directed RNA polymerase activity IDA 24043831, 26975377
GO:0003899 Function DNA-directed RNA polymerase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176635 9369 ENSG00000198056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49642
Protein name DNA primase small subunit (EC 2.7.7.102) (DNA primase 49 kDa subunit) (p49)
Protein function Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex - primosome/replisome) which play an essential role in the initiation of DNA synthesis (PubMed
PDB 4BPU , 4BPW , 4BPX , 4LIK , 4LIL , 4MHQ , 4RR2 , 5EXR , 6R4S , 6R4T , 6R4U , 6R5D , 6R5E , 6RB4 , 7OPL , 7U5C , 8B9D , 8D0B , 8D0K , 8D9D , 8QJ7 , 8VY3 , 9C8V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01896 DNA_primase_S 108 336 DNA primase small subunit Family
Sequence
METFDPTELPELLKLYYRRLFPYSQYYRWLNYGGVIKNYFQHREFSFTLKDDIYIRYQSF
NNQSDLEKEMQKMNPYKIDIGAVYSHRPNQHNTVKLGAFQAQEKELVFDIDMTDYDDVRR
CCSSADICPKCWTLMTMAIRIIDRALKEDFGFKHRLWVYSGRRGVHCWVCDESVRKLSSA
VRSGIVEYLSLVKGGQDVKKKVHLSEKIHPFIRKSINIIKKYFEEYALVNQDILENKESW
DKILALVPETIHDELQQSFQKSHNSLQRWEHLKKVASRYQNNIKNDKYGPWLEWEIMLQY
CFPRLDINVSKGINHLLKSPFSVHPKTGRISVPIDL
QKVDQFDPFTVPTISFICRELDAI
STNEEEKEENEAESDVKHRTRDYKKTSLAPYVKVFEHFLENLDKSRKGELLKKSDLQKDF
Sequence length 420
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  DNA replication   Inhibition of replication initiation of damaged DNA by RB1/E2F1
Polymerase switching on the C-strand of the telomere
Telomere C-strand synthesis initiation
DNA replication initiation
Activation of the pre-replicative complex
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome Pathogenic rs1953871835, rs1487483670, rs762016916 RCV002274169
RCV002274167
RCV002274168
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome Pathogenic rs1953871835, rs1487483670, rs762016916 RCV006449385
RCV006449383
RCV006449384
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 30097999
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32908930 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32908930 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 31797865 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30097999
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30257222
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 30097999
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30097999, 30257222
★☆☆☆☆
Found in Text Mining only
Ovarian Failure, Premature Ovarian Failure BEFREE 27599756
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pituitary dwarfism 1 Pituitary dwarfism Pubtator 33060134 Associate
★☆☆☆☆
Found in Text Mining only