1. Gene
  2. KEAP1 - kelch like ECH associated protein 1 Gene

KEAP1 - kelch like ECH associated protein 1 Gene

中文名称:kelch 样 ECH 相关蛋白 1

种属: Homo sapiens

同用名: INrf2; KLHL19

基因 ID: 9817 | 基因类型: protein coding

关于 KEAP1

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,486,125-10,503,356 (from NCBI)

This gene has 10 transcripts (splice variants), 189 orthologues, 54 paralogues and is associated with 94 phenotypes. Ubiquitous expression in kidney (RPKM 10.4), prostate (RPKM 9.9) and 25 other tissues.

功能概要

该基因编码的蛋白质包含 KELCH-1 样结构域以及 BTB/POZ 结构域。 Kelch 样 ECH 相关蛋白 1 以氧化还原敏感的方式与 NF-E2 相关因子 2 相互作用,细胞质中的蛋白质解离后将 NF-E2 相关因子 2 转运至细胞核。这种相互作用导致 γ-谷氨酰半胱氨酸合成酶的催化亚基的表达。已经为该基因发现了编码相同亚型的两个选择性剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]

KEAP1 基因产物(6)

mRNA Protein Name
XM_011528452.2 XP_011526754.1 kelch-like ECH-associated protein 1 isoform X1
NM_203500.2 NP_987096.1 kelch-like ECH-associated protein 1
XM_005260174.2 XP_005260231.1 kelch-like ECH-associated protein 1 isoform X1
XM_005260173.2 XP_005260230.1 kelch-like ECH-associated protein 1 isoform X1
NM_012289.4 NP_036421.2 kelch-like ECH-associated protein 1
XM_047439788.1 XP_047295744.1 kelch-like ECH-associated protein 1 isoform X2
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 RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
17015834 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15601839 GOA
enables transcription regulator inhibitor activity IDA
IDA: 通过直接分析推断
17015834 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
15572695 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to oxidative stress IDA
IDA: 通过直接分析推断
15601839 GOA
involved in negative regulation of response to oxidative stress IDA
IDA: 通过直接分析推断
15601839 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17015834 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
15601839 GOA
involved in regulation of autophagy IDA
IDA: 通过直接分析推断
20452972 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
15572695 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul3-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
15601839 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15601839 GOA
located in inclusion body IDA
IDA: 通过直接分析推断
20452972 GOA
located in midbody IDA
IDA: 通过直接分析推断
15166316 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

KEAP1 蛋白结构

BTB

BTB: BTB/POZ domain (67 - 178)

BACK

BACK: BTB And C-terminal Kelch (185 - 285)

Kelch_1

Kelch_1: Kelch motif (324 - 358)

Kelch_1

Kelch_1: Kelch motif (361 - 410)

Kelch_1

Kelch_1: Kelch motif (412 - 456)

Kelch_1

Kelch_1: Kelch motif (459 - 503)

Kelch_1

Kelch_1: Kelch motif (507 - 550)

Kelch_1

Kelch_1: Kelch motif (553 - 597)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 624 a.a.
蛋白主名 其他名称

kelch-like ECH-associated protein 1

KEAP1 delta C

cytosolic inhibitor of Nrf2

kelch-like family member 19

kelch-like protein 19

重组 KEAP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75897 KEAP1 Protein, Human (sf9) Q14145 (Q2-C624) ≥95%
HY-P75899 KEAP1 Protein, Human (sf9, His-GST) Q14145 (Q2-C624) ≥95%

关联疾病

疾病名称 别名
Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Penis Carcinoma In Situ

Carcinoma In Situ Of Penis

Bowen'S Disease Of Penis

Grade Iii Squamous Intraepithelial Lesion Of Penis

Penile Intraepithelial Neoplasia Grade Iii

Queyrat'S Erythroplasia

Erythroplasia Of Queyrat

Pin - [Penile Intraepithelial Neoplasia]

Diabetes Mellitus

Diabetes

Microphthalmia, Isolated 1

Isolated Microphthalmia 1

MCOP1

Mcop

Anophthalmia, Clinical, Isolated

Microphthalmos, Autosomal Recessive

Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors

Euthyroid Goiter

MNG1

Simple Goiter

Goiter Euthyroid

Goiter, Nontoxic, With Intrathyroidal Calcification

Multinodular Goiter, Adolescent

Familial Multinodular Goiter

Fmng

Familial Mng

Familial Multinodular Goiter Syndrome

Goiter Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors

Goiter Nontoxic With Intrathyroidal Calcification

Goiter Non-Toxic With Intrathyroidal Calcification

Multinodular Goiter Adolescent

Goiter, Multinodular, Type 1, With/Without Sertoli-Leydig Cell Tumors

Endemic Goiter

Trichothiodystrophy 4, Nonphotosensitive

Amish Brittle Hair Brain Syndrome

TTD4

Trichothiodystrophy, Nonphotosensitive 1

Hair-Brain Syndrome

Bids Syndrome

Ttdn1

Abhs

Pollitt Syndrome

Trichothiodystrophy-Neurocutaneous Syndrome

Nonphotosensitive Trichothiodystrophy 4

Trichorrhexis Nodosa Syndrome

Trichothiodystrophy 4, Non-Photosensitive

Trichothiodystrophy Non-Photosensitive 1

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Protection Against

Lung Cancer, Susceptibility To

Adenocarcinoma Of Lung, Somatic

Nonsmall Cell Lung Cancer

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Pulmonary Large Cell Neuroendocrine Carcinoma

Large Cell Lung Neuroendocrine Carcinoma

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Squamous Cell Skin Cancer

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Large Cell Carcinoma With Rhabdoid Phenotype

Large Cell Lung Carcinoma With Rhabdoid Phenotype

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 KEAP1 MGD MGI:1858732
Felis catus KEAP1 VGNC VGNC:63076
Macaca mulatta KEAP1 VGNC VGNC:73891
Canis familiaris KEAP1 VGNC VGNC:42332
Rattus norvegicus KEAP1 RGD RGD:621619
Bos taurus KEAP1 VGNC VGNC:30537
Others KEAP1 NCBI