PRIM1 DNA primase subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRIM1provided by HGNC
Official Full Name: DNA primase subunit 1provided by HGNC
Primary source: HGNC:HGNC:9369
See related: Ensembl:ENSG00000198056 MIM:176635; AllianceGenome:HGNC:9369
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p49; PDIL
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, 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]
Expression: Broad expression in bone marrow (RPKM 10.3), testis (RPKM 9.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56731580..56752323, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56699510..56720267, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57125364..57146107, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.
Title: Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.
Small tandem DNA duplications result from CST-guided Pol alpha-primase action at DNA break termini.
Title: Small tandem DNA duplications result from CST-guided Pol α-primase action at DNA break termini.
DNA Primase Subunit 1 Expression in Hepatocellular Carcinoma and Its Clinical Implication.
Title: DNA Primase Subunit 1 Expression in Hepatocellular Carcinoma and Its Clinical Implication.
the structure of human p49at 2.2A resolution with citrate in its inactive forms, is reported.
Title: Structural and biochemical insights into inhibition of human primase by citrate.
PRIM1 was detected preferentially at a higher level (>40-fold) in poorly differentiated tumor tissues (n = 46) compared with more highly differentiated tumors tissues (n = 10) (*p = 0.005).
Title: DNA primase polypeptide 1 (PRIM1) involves in estrogen-induced breast cancer formation through activation of the G2/M cell cycle checkpoint.
PRIM1 inactivation sensitizes cancer cells to ATR and CHK1 inhibitors via S-phase stasis and Wee1-mediated, caspase 8-dependent apoptosis.
Title: Inactivation of PRIM1 Function Sensitizes Cancer Cells to ATR and CHK1 Inhibitors.
No mutations within PRIM1 were found in Chinese women with primary ovarian insufficiency.
Title: Variation analysis of PRIM1 gene in Chinese patients with primary ovarian insufficiency.
Data suggest that PRIM1-p58,C-terminal domain stays bound to initiating NTP and 3prime-overhang DNA during whole cycle of RNA primer synthesis; meanwhile, PRIM1-p49 slides along DNA template toward 5prime-end with PRIM1-p58,N-terminal domain attached.
Title: Insight into the Human DNA Primase Interaction with Template-Primer.
Data indicate that the conformational changes in primase are necessary to accomplish the initiation and then elongation of RNA synthesis.
Title: Crystal structure of the human primase.
Findings indicate that tethering of DNA primase Prim1 to the replisome by DNA polymerase alpha (pol alpha) is critical for the normal action of DNA replication forks in eukaryotic cells.
Title: A conserved motif in the C-terminal tail of DNA polymerase α tethers primase to the eukaryotic replisome.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome MedGen: C5774198 OMIM: 620005 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA primase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA primase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA primase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA replication initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA replication, synthesis of primer	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication, synthesis of primer	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of alpha DNA polymerase:primase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of alpha DNA polymerase:primase complex	IDA Inferred from Direct Assay more info	PubMed
part_of alpha DNA polymerase:primase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: DNA primase small subunit

Names: DNA primase 1; DNA primase 49 kDa subunit; DNA primase subunit 48; primase (DNA) subunit 1; primase p49 subunit; primase polypeptide 1, 49kDa; primase, DNA, polypeptide 1 (49kDa)

NP_000937.1

EC 2.7.7.102

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000946.3 → NP_000937.1 DNA primase small subunit

See identical proteins and their annotated locations for NP_000937.1

Status: REVIEWED

Source sequence(s)

AA761682, BC005266

Consensus CDS

CCDS44926.1

UniProtKB/Swiss-Prot

P49642

UniProtKB/TrEMBL

B2RBY4, Q53F98

Related

ENSP00000350491.5, ENST00000338193.11

Conserved Domains (1) summary

cd04860
Location:22 → 344

AE_Prim_S; primase domain similar to that found in the small subunit of archaeal and eukaryotic (A/E) DNA primases. Primases are DNA-dependent RNA polymerases which synthesis the short RNA primers required for DNA replication. In addition to its catalytic role in ...