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

Gene ID: 5557, updated on 1-Mar-2024

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
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Genomic context

See PRIM1 in Genome Data Viewer
Location:
12q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56731580..56752323, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56699510..56720267, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57125364..57146107, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 809, pseudogene Neighboring gene prostaglandin E synthase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57074705-57075584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6514 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57081953-57082478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57083531-57084056 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57094539-57094693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6519 Neighboring gene nascent polypeptide associated complex subunit alpha Neighboring gene Sharpr-MPRA regulatory region 96 Neighboring gene hydroxysteroid 17-beta dehydrogenase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57198454-57199103 Neighboring gene small nucleolar RNA SNORA48

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC12308

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 RNA primer IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in DNA replication, synthesis of RNA 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 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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

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)

  1. NM_000946.3NP_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:22344
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    56731580..56752323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    56699510..56720267 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)