1. Gene
  2. REV3L - REV3 like, DNA directed polymerase zeta catalytic subunit Gene

REV3L - REV3 like, DNA directed polymerase zeta catalytic subunit Gene

中文名称:REV3 样,DNA 定向聚合酶 zeta 催化亚基

种属: Homo sapiens

同用名: POLZ; REV3

基因 ID: 5980 | 基因类型: protein coding

关于 REV3L

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:111,299,033-111,483,711 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 7.3), testis (RPKM 3.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质代表 DNA 聚合酶 zeta 的催化亚基,它在转位 DNA 合成中发挥作用。编码的蛋白质可以在线粒体中找到,它可以保护 DNA 免受损伤。该基因的缺陷是莫比乌斯综合症的一个原因。[RefSeq 提供,2017 年 1 月]

The protein encoded by this gene represents the catalytic subunit of DNA Polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]

REV3L 基因产物(4)

mRNA Protein Name
NM_001286431.2 NP_001273360.1 DNA polymerase zeta catalytic subunit isoform b
NM_001286432.2 NP_001273361.1 DNA polymerase zeta catalytic subunit isoform b
NM_001372078.1 NP_001359007.1 DNA polymerase zeta catalytic subunit isoform a
NM_002912.5 NP_002903.3 DNA polymerase zeta catalytic subunit isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
22828282 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in error-prone translesion synthesis IDA
IDA: 通过直接分析推断
24449906 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of zeta DNA polymerase complex IDA
IDA: 通过直接分析推断
20164194 GOA
part of zeta DNA polymerase complex IPI
IPI: 通过物理相互作用推断
24449906 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

REV3L 蛋白结构

DNA_pol_B_exo1

DNA_pol_B_exo1: DNA polymerase family B, exonuclease domain (46 - 190)

DNA_pol_B_exo1

DNA_pol_B_exo1: DNA polymerase family B, exonuclease domain (2235 - 2484)

DNA_pol_B

DNA_pol_B: DNA polymerase family B (2558 - 3001)

zf-C4pol

zf-C4pol: C4-type zinc-finger of DNA polymerase delta (3042 - 3109)

  • 0
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  • 2500
  • 3130 a.a.
蛋白主名 其他名称

DNA polymerase zeta catalytic subunit

REV3-like, polymerase (DNA directed), zeta, catalytic subunit

关联疾病

疾病名称 别名
Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

Lymph Node Carcinoma

Lymph Node Cancer

Lymph Node Neoplasm

Neoplasm Of Lymph Node

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia

HH16

Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia

Carey-Fineman-Ziter Syndrome 1

Carey-Fineman-Ziter Syndrome

CFZS

Congenital Nonprogressive Myopathy With Moebius And Robin Sequences

Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence

Cfz Syndrome

Carey Fineman Ziter Syndrome

Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences

Myopathy-Moebius-Robin Syndrome

CFZS1

Moebius Sequence, Robin Complex, And Hypotonia

Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

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

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

Poland Syndrome

Poland Anomaly

Poland Sequence

Poland Syndactyly

Poland'S Syndrome

Poland'S Anomaly

Poland'S Syndactyly

Acro-Pectoro-Renal Field Defect

Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys

Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand

Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand

Xia-Gibbs Syndrome

Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome

XIGIS

Mrd25

Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome

Mental Retardation, Autosomal Dominant 25, Formerly

Mrd25, Formerly

Autosomal Dominant Mental Retardation 25

Autosomal Dominant Intellectual Disability 25

Xgs

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

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

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 REV3L VGNC VGNC:45488
Bos taurus REV3L VGNC VGNC:33883
Felis catus REV3L VGNC VGNC:69293
Rattus norvegicus REV3L RGD RGD:1307087
Mus musculus REV3L MGD MGI:1337131
Macaca mulatta REV3L VGNC VGNC:76900