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POLA1 - DNA polymerase alpha 1, catalytic subunit Gene

Also Known as NSX; POLA; p180; VEODS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5422

About POLA1

Cytogenetic location: Xp22.11-p21.3 Genomic coordinates (GRCh38): X:24,693,918-24,996,986 (from NCBI)

This gene has 14 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in lymph node (RPKM 2.6), bone marrow (RPKM 2.2) and 25 other tissues.

Summary

This gene encodes the catalytic subunit of DNA Polymerase, which together with a regulatory and two primase subunits, forms the DNA Polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]

POLA1 Products (3)

mRNA	Protein	Name
NM_001330360.2	NP_001317289.1	DNA polymerase alpha catalytic subunit isoform 1
NM_001378303.1	NP_001365232.1	DNA polymerase alpha catalytic subunit isoform 3
NM_016937.4	NP_058633.2	DNA polymerase alpha catalytic subunit isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	16762037	GOA
enables DNA-directed DNA polymerase activity	IDA IDA: Inferred from direct assay	893425	GOA
enables DNA-directed DNA polymerase activity	IMP IMP: Inferred from mutant phenotype	4084590	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	16762037	GOA
enables nucleotide binding	IDA IDA: Inferred from direct assay	3139084	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1311258	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	9506968	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	26975377	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in DNA repair	IDA IDA: Inferred from direct assay	3335506	GOA
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	11470886	GOA
involved in DNA replication	IMP IMP: Inferred from mutant phenotype	3917431	GOA
involved in DNA replication initiation	IDA IDA: Inferred from direct assay	2175912	GOA
involved in DNA replication, synthesis of primer	IDA IDA: Inferred from direct assay	2175912	GOA
involved in DNA strand elongation involved in DNA replication	IMP IMP: Inferred from mutant phenotype	4084590	GOA
involved in DNA synthesis involved in DNA repair	IMP IMP: Inferred from mutant phenotype	11470886	GOA
NOT involved in DNA synthesis involved in UV-damage excision repair	IMP IMP: Inferred from mutant phenotype	1730053	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	11470886	GOA
involved in lagging strand elongation	IDA IDA: Inferred from direct assay	2175912	GOA
involved in leading strand elongation	IDA IDA: Inferred from direct assay	2175912	GOA
NOT involved in nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	1508673	GOA
involved in regulation of type I interferon production	IMP IMP: Inferred from mutant phenotype	27019227	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of alpha DNA polymerase:primase complex	IDA IDA: Inferred from direct assay	2175912	GOA
part of alpha DNA polymerase:primase complex	IPI IPI: Inferred from physical interaction	26975377	GOA
located in chromatin	IDA IDA: Inferred from direct assay	9815285	GOA
located in cytosol	IDA IDA: Inferred from direct assay	27019227	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	9518481	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	1903085	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	9518481	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	7045121	GOA
located in nucleus	IDA IDA: Inferred from direct assay	4084590	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

POLA1 Protein Structure

DNA_pol_alpha_N

DNA_pol_B_exo1

DNA_pol_B

zf-DNA_Pol

0
300
600
900
1200
1462 a.a.

Protein Preferred Names	Protein Names
DNA polymerase alpha catalytic subunit	DNA polymerase alpha catalytic subunit p180

POLA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	POLA1	P09884	lt_sv40	Simian virus 40	P03070	CoIP	8380896
Cross	POLA1	P09884	lt_sv40	Simian virus 40	P03070	Pull Down	8380896
Cross	POLA1	P09884	lt_sv40	Simian virus 40	P03070	ELISA	8648648
Intra	POLA1	P09884	RPA1	Homo sapiens	P27694	CoIP	17666013
Cross	POLA1	P09884	obp_hhv11	Human herpesvirus 1	P10193	ELISA	7644508
Cross	POLA1	P09884	obp_hhv11	Human herpesvirus 1	P10193	CoIP	7644508

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	PDR Xlpdr Familial Lichen Amyloidosis Pigmentary Disorder, Reticulate, With Systemic Manifestations
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
N Syndrome	NSX Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia
Primary Syphilis	Early Symptomatic Syphilis Early Syphilis, Symptomatic Symptomatic Early Syphilis
Secondary Syphilis	Syphilis, Secondary Secondary Syphilis Of Viscera Or Bone
Early Congenital Syphilis
Latent Syphilis	Syphilis, Latent
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Congenital Syphilis	Syphilis, Congenital Congenital Syphilis, Unspecified Mtct Of Syphilis Mother-To-Child Transmission Of Syphilis Syphilis Congenital Hereditary Syphilis Heredosyphilis
Yaws	Frambesia Frambesia Tropica Bouba Frambosie Polypapilloma Tropicum Thymosis Endemic Treponematoses Treponema Pertenue Infection Pian Framboesia Framboesia Tropica Castellani Infection By Treponema Pertenue Parangi Framboesioma Chancre Of Yaws Primary Framboesia Initial Lesions Of Yaws Mother Yaw Initial Framboesia
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147812	POLA1 inhibitor 1	Inhibitor	98.00%	Unkown
HY-143412	MIR002		99.0%	Unkown
HY-143411	GEM144		/	Unkown
HY-E71047	DNA Polymerase Alpha, Human		/	Unkown
HY-RS10816	POLA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17305	Pola1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23760	Pola1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POLA1	MGD	MGI:99660
Bos taurus	POLA1	VGNC	VGNC:33110
Canis familiaris	POLA1	VGNC	VGNC:44771
Felis catus	POLA1	VGNC	VGNC:68934
Macaca mulatta	POLA1	VGNC	VGNC:76202
Rattus norvegicus	POLA1	RGD	RGD:621816
Others	POLA1	NCBI