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  2. POLA1 - DNA polymerase alpha 1, catalytic subunit Gene

POLA1 - DNA polymerase alpha 1, catalytic subunit Gene

Homo sapiens

Also known as NSX; POLA; p180; VEODS

Gene ID: 5422 | Gene type: protein coding

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

POLA1 Protein Structure

DNA_pol_alpha_N

DNA_pol_alpha_N: DNA polymerase alpha subunit p180 N terminal (35 - 97)

DNA_pol_B_exo1

DNA_pol_B_exo1: DNA polymerase family B, exonuclease domain (371 - 710)

DNA_pol_B

DNA_pol_B: DNA polymerase family B (783 - 1240)

zf-DNA_Pol

zf-DNA_Pol: DNA Polymerase alpha zinc finger (1264 - 1455)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1462 a.a.
Protein Preferred Names Protein Names

DNA polymerase alpha catalytic subunit

DNA polymerase alpha catalytic subunit p180

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

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