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  2. POLB - DNA polymerase beta Gene

POLB - DNA polymerase beta Gene

中文名称:DNA 聚合酶β

种属: Homo sapiens

基因 ID: 5423 | 基因类型: protein coding

关于 POLB

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,338,494-42,371,808 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues and 3 paralogues. Broad expression in testis (RPKM 24.2), urinary bladder (RPKM 8.5) and 24 other tissues.

功能概要

由该基因编码的蛋白质是参与碱基切除和修复的 DNA 聚合酶,也称为缺口填充 DNA 合成。编码的蛋白质作为单体,通常存在于细胞质中,但在 DNA 损伤时会转移到细胞核。存在该基因的多个转录本变体,但迄今为止仅描述了一个的全长性质。[RefSeq 提供,2011 年 9 月]

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

POLB 基因产物(1)

mRNA Protein Name
NM_002690.3 NP_002681.1 DNA polymerase beta

POLB 蛋白结构

HHH_8

HHH_8: Helix-hairpin-helix domain (15 - 77)

DNA_pol_lambd_f

DNA_pol_lambd_f: Fingers domain of DNA polymerase lambda (98 - 147)

DNA_pol_B_palm

DNA_pol_B_palm: DNA polymerase beta palm (149 - 262)

DNA_pol_B_thumb

DNA_pol_B_thumb: DNA polymerase beta thumb (269 - 334)

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  • 335 a.a.
蛋白主名 其他名称

DNA polymerase beta

DNA pol beta

重组 POLB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7883 DNA polymerase beta Protein, Human (His) P06746 (S2-E335) ≥95%

关联疾病

疾病名称 别名
Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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

Rhabdomyosarcoma
Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

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
Rattus norvegicus POLB RGD RGD:3363
Mus musculus POLB MGD MGI:97740
Felis catus POLB VGNC VGNC:68935
Macaca mulatta POLB VGNC VGNC:104470
Canis familiaris POLB VGNC VGNC:44773
Bos taurus POLB VGNC VGNC:33112
Others POLB NCBI