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  2. POLI - DNA polymerase iota Gene

POLI - DNA polymerase iota Gene

中文名称:DNA 聚合酶

种属: Homo sapiens

同用名: eta2; RAD30B; RAD3OB

基因 ID: 11201 | 基因类型: protein coding

关于 POLI

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:54,269,479-54,321,266 (from NCBI)

This gene has 16 transcripts (splice variants), 184 orthologues and 5 paralogues. Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 7.6) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种参与 DNA 修复的易错 DNA 聚合酶。编码的蛋白质促进模板 DNA 中损伤处的 DNA 合成,这是其他聚合酶无法做到的。编码的聚合酶在损伤处插入脱氧核苷酸,然后依靠 DNA 聚合酶 zeta 延伸新生 DNA 链以绕过损伤处。[RefSeq 提供,2017 年 5 月]

The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]

POLI 基因产物(14)

mRNA Protein Name
NM_001351610.1 NP_001338539.1 DNA polymerase iota isoform b
NM_001351611.2 NP_001338540.1 DNA polymerase iota isoform c
NM_001351612.2 NP_001338541.1 DNA polymerase iota isoform c
NM_001351613.1 NP_001338542.1 DNA polymerase iota isoform d
NM_001351614.2 NP_001338543.1 DNA polymerase iota isoform e
NM_001351615.2 NP_001338544.1 DNA polymerase iota isoform e
NM_001351616.1 NP_001338545.1 DNA polymerase iota isoform f
NM_001351617.2 NP_001338546.1 DNA polymerase iota isoform g precursor
NM_001351618.2 NP_001338547.1 DNA polymerase iota isoform g precursor
NM_001351619.2 NP_001338548.1 DNA polymerase iota isoform g precursor
NM_001351620.2 NP_001338549.1 DNA polymerase iota isoform h
NM_001351621.1 NP_001338550.1 DNA polymerase iota isoform i
NM_001351632.2 NP_001338561.1 DNA polymerase iota isoform a (short)
NM_007195.3 NP_009126.2 DNA polymerase iota isoform a (long)

POLI 蛋白结构

IMS

IMS: impB/mucB/samB family (58 - 235)

IMS_C

IMS_C: impB/mucB/samB family C-terminal domain (316 - 439)

  • 0
  • 200
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  • 600
  • 740 a.a.
蛋白主名 其他名称

DNA polymerase iota

RAD30 homolog B

关联疾病

疾病名称 别名
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Acrofacial Dysostosis, Cincinnati Type

Acrofacial Dysostosis Cincinnati Type

AFDCIN

Dysostosis, Acrofacial, Cincinnati Type

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Mouth Disease

Mouth Diseases

Mouth Disorders

Multiple Personality Disorder

Dissociative Identity Disorder

Multiple Personality

Rapp-Hodgkin Syndrome

RHS

Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

Ectodermal Dysplasia, Rapp-Hodgkin Type

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

Edrh

Rapp-Hodgkin Ectodermal Dysplasia

Orofacial Cleft 8

Sleeping Sickness

African Trypanosomiasis

African Sleeping Sickness

Trypanosomiasis, Human East-African

Trypanosomiasis, East African

Trypanosomiasis African

Trypanosomiasis, African

Human African Trypanosomiasis

Tremor, Hereditary Essential, 2

ETM2

Essential Tremor 2

Essential Tremor, Hereditary, 2

Hereditary Essential Tremor 2

Tremor Hereditary Essential, 2

Oppositional Defiant Disorder

Disorder

Oppositional Defiance

Behavioural Disorder

Oppositional Defiance

Disruptive Mood Dysregulation Disorder

Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta

IMD25

Immunodeficiency, Type 25

Prosopagnosia
Alexithymia
Developmental Coordination Disorder

Motor Skills Disorders

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Anauxetic Dysplasia 1

Anauxetic Dysplasia

Spondylometaepiphyseal Dysplasia, Menger Type

Spondylometaepiphyseal Dysplasia, Anauxetic Type

Spondyloepimetaphyseal Dysplasia, Anauxetic Type

ANXD1

Anxd

Spondylometaepiphyseal Dysplasia Anauxetic Type

Spondylometaepiphyseal Dysplasia Menger Type

Ad

Spondyloepimetaphyseal Dysplasia, Menger Type

Dysplasia, Anauxetic, Type 1

Cockayne Syndrome B

Cockayne Syndrome Type 2

Cockayne Syndrome, Type B

Cockayne Syndrome Type Ii

CSB

Cockayne Syndrome 2

Cockayne Syndrome Type B

Ckn2

Cockayne Syndrome, Type Ii

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Specific Language Impairment

Language Impairment, Specific

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Dyslexia
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

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
Canis familiaris POLI VGNC VGNC:44784
Felis catus POLI VGNC VGNC:80465
Rattus norvegicus POLI RGD RGD:1305212
Bos taurus POLI VGNC VGNC:33125
Mus musculus POLI MGD MGI:1347081
Macaca mulatta POLI VGNC VGNC:76208
Macaca fascicularis POLI NCBI
Leporidae POLI NCBI
Others POLI NCBI