PRIM1 - DNA primase subunit 1 Gene

Also Known as p49; PDIL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5557

About PRIM1

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,731,580-56,752,323 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 10.3), testis (RPKM 9.4) and 25 other tissues.

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]

PRIM1 Products (1)

mRNA Protein Name
NM_000946.3 NP_000937.1 DNA primase small subunit
Molecular Function GO Annotation Evidence References Source
enables DNA primase activity IDA
IDA: Inferred from direct assay
24043831 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
24043831 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables ribonucleotide binding IDA
IDA: Inferred from direct assay
24043831 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
24043831 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA replication initiation IDA
IDA: Inferred from direct assay
26975377 GOA
involved in DNA replication, synthesis of primer IDA
IDA: Inferred from direct assay
8026492 GOA
Cellular Component GO Annotation Evidence References Source
part of alpha DNA polymerase:primase complex IDA
IDA: Inferred from direct assay
8026492 GOA
part of alpha DNA polymerase:primase complex IPI
IPI: Inferred from physical interaction
26975377 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRIM1 Protein Structure

DNA_primase_S

DNA_primase_S: DNA primase small subunit (108 - 335)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 420 a.a.
Protein Preferred Names Protein Names

DNA primase small subunit

  • DNA primase 1

PRIM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRIM1 P49642 PRIM2 Homo sapiens P49643 32296183
Intra
PRIM1 P49642 PRIM2 Homo sapiens P49643 32296183
Intra
PRIM1 P49642 PRIM2 Homo sapiens P49643 32296183
Intra
PRIM1 P49642 PRIM2 Homo sapiens P49643 33961781
Intra
PRIM1 P49642 PRIM2 Homo sapiens P49643 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

PRIM1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810910 PRIM1 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
  • PDIL

Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Van Esch-O'Driscoll Syndrome
  • X-Linked Intellectual Disability, Van Esch Type

  • VEODS

  • Mrxsveod

  • Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type

  • X-Linked Syndromic Mental Retardation Van Esch-O'Driscoll Type

Telangiectatic Osteogenic Sarcoma
  • Telangiectatic Osteosarcoma

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Bone Osteosarcoma
  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PRIM1 VGNC VGNC:49067
Mus musculus PRIM1 MGD MGI:97757
Rattus norvegicus PRIM1 RGD RGD:621380
Others PRIM1 NCBI