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

POLA1 - DNA polymerase alpha 1, catalytic subunit Gene

中文名称:DNA 聚合酶 alpha 1,催化亚基

种属: Homo sapiens

同用名: NSX; POLA; p180; VEODS

基因 ID: 5422 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 DNA 聚合酶的催化亚基,它与一个调节亚基和两个引物酶亚基一起形成 DNA 聚合酶 α 复合物。催化亚基在 DNA 复制的启动中起着至关重要的作用。[RefSeq 提供,2010 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
16762037 GOA
enables DNA-directed DNA polymerase activity IDA
IDA: 通过直接分析推断
893425 GOA
enables DNA-directed DNA polymerase activity IMP
IMP: 通过突变表型推断
4084590 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
16762037 GOA
enables nucleotide binding IDA
IDA: 通过直接分析推断
3139084 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
1311258 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
9506968 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
26975377 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in DNA repair IDA
IDA: 通过直接分析推断
3335506 GOA
involved in DNA repair IMP
IMP: 通过突变表型推断
11470886 GOA
involved in DNA replication IMP
IMP: 通过突变表型推断
3917431 GOA
involved in DNA replication initiation IDA
IDA: 通过直接分析推断
2175912 GOA
involved in DNA replication, synthesis of primer IDA
IDA: 通过直接分析推断
2175912 GOA
involved in DNA strand elongation involved in DNA replication IMP
IMP: 通过突变表型推断
4084590 GOA
involved in DNA synthesis involved in DNA repair IMP
IMP: 通过突变表型推断
11470886 GOA
NOT involved in DNA synthesis involved in UV-damage excision repair IMP
IMP: 通过突变表型推断
1730053 GOA
involved in double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
11470886 GOA
involved in lagging strand elongation IDA
IDA: 通过直接分析推断
2175912 GOA
involved in leading strand elongation IDA
IDA: 通过直接分析推断
2175912 GOA
NOT involved in nucleotide-excision repair IMP
IMP: 通过突变表型推断
1508673 GOA
involved in regulation of type I interferon production IMP
IMP: 通过突变表型推断
27019227 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of alpha DNA polymerase:primase complex IDA
IDA: 通过直接分析推断
2175912 GOA
part of alpha DNA polymerase:primase complex IPI
IPI: 通过物理相互作用推断
26975377 GOA
located in chromatin IDA
IDA: 通过直接分析推断
9815285 GOA
located in cytosol IDA
IDA: 通过直接分析推断
27019227 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
9518481 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
1903085 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
9518481 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
7045121 GOA
located in nucleus IDA
IDA: 通过直接分析推断
4084590 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

POLA1 蛋白结构

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.
蛋白主名 其他名称

DNA polymerase alpha catalytic subunit

DNA polymerase alpha catalytic subunit p180

POLA1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
POLA1 P09884 lt_sv40 Simian virus 40 P03070
CoIP
8380896
种属间
POLA1 P09884 lt_sv40 Simian virus 40 P03070
Pull Down
8380896
种属间
POLA1 P09884 lt_sv40 Simian virus 40 P03070
ELISA
8648648
种属内
POLA1 P09884 RPA1 Homo sapiens P27694
CoIP
17666013
种属间
POLA1 P09884 obp_hhv11 Human herpesvirus 1 P10193
ELISA
7644508
种属间
POLA1 P09884 obp_hhv11 Human herpesvirus 1 P10193
CoIP
7644508
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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