2. Gene
  3. KLHL24 - kelch like family member 24 Gene

KLHL24 - kelch like family member 24 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：kelch 样家族成员 24

种属: Homo sapiens

同用名: DRE1; EBS6; EBSSH; KRIP6

基因 ID: 54800 | 基因类型: protein coding

关于 KLHL24

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,635,623-183,684,519 (from NCBI)

This gene has 15 transcripts (splice variants), 223 orthologues, 54 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 9.5), thyroid (RPKM 9.3) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种泛素连接酶底物受体，受自身泛素化调控。已发现该基因翻译起始密码子的变异，由于自身泛素化功能的丧失，导致 N 末端截短但更稳定的蛋白质。更稳定的突变蛋白导致泛素增加和角蛋白 14 降解，从而导致皮肤脆弱和可能危及生命的大疱性表皮松解症。编码的蛋白质还参与红藻氨酸受体的调节。[RefSeq 提供，2017 年 3 月]

The protein encoded by this gene is a ubiquitin Ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]

KLHL24 基因产物(17)

mRNA Protein Name
NM_001349413.1 NP_001336342.1 kelch-like protein 24 isoform a
NM_001349414.1 NP_001336343.1 kelch-like protein 24 isoform a
NM_001349415.1 NP_001336344.1 kelch-like protein 24 isoform a
NM_001349416.1 NP_001336345.1 kelch-like protein 24 isoform a
NM_001349417.1 NP_001336346.1 kelch-like protein 24 isoform a
NM_001349418.1 NP_001336347.1 kelch-like protein 24 isoform a
NM_001349419.1 NP_001336348.1 kelch-like protein 24 isoform b
NM_001349420.1 NP_001336349.1 kelch-like protein 24 isoform b
NM_001349421.1 NP_001336350.1 kelch-like protein 24 isoform b
NM_001349422.1 NP_001336351.1 kelch-like protein 24 isoform b
NM_001349423.1 NP_001336352.1 kelch-like protein 24 isoform b
NM_001349424.1 NP_001336353.1 kelch-like protein 24 isoform b
NM_001349425.1 NP_001336354.1 kelch-like protein 24 isoform b
NM_001349426.1 NP_001336355.1 kelch-like protein 24 isoform b
NM_001349428.1 NP_001336357.1 kelch-like protein 24 isoform c
NM_001349429.1 NP_001336358.1 kelch-like protein 24 isoform c
NM_017644.3 NP_060114.2 kelch-like protein 24 isoform b
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
27798626 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intermediate filament organization IMP
IMP: 通过突变表型推断
27889062 GOA
involved in protein autoubiquitination IMP
IMP: 通过突变表型推断
27798626 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
27798626 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 IMP
IMP: 通过突变表型推断
27798626 GOA
located in adherens junction IDA
IDA: 通过直接分析推断
27889062 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
27889062 GOA
located in desmosome IDA
IDA: 通过直接分析推断
27889062 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

KLHL24 蛋白结构

BTB

BTB: BTB/POZ domain (56 - 162)

BACK

BACK: BTB And C-terminal Kelch (168 - 270)

Kelch_1

Kelch_1: Kelch motif (354 - 394)

Kelch_1

Kelch_1: Kelch motif (400 - 440)

Kelch_1

Kelch_1: Kelch motif (445 - 482)

Kelch_1

Kelch_1: Kelch motif (494 - 529)

Kelch_1

Kelch_1: Kelch motif (536 - 578)

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

kelch-like protein 24

kainate receptor interacting protein for GluR6

KLHL24 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
Intra KLHL24 Q6TFL4 ATP6V1C2 Homo sapiens Q8NEY4-2
Validated Y2H
32296183
Intra KLHL24 Q6TFL4 KLHL12 Homo sapiens Q53G59
Anti Tag CoIP
30190310
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
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss

Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss

EBS6

Ebssh

Intermediate Epidermolysis Bullosa Simplex With Cardiomyopathy

Intermediate Ebs With Cardiomyopathy
Epidermolysis Bullosa Simplex Generalized Type

Epidermolysis Bullosa Simplex, Koebner Type

Epidermolysis Bullosa Simplex Koebner Type

Epidermolysis Bullosa Simplex, Generalized

Ebs, Generalized

Ebs-K

Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara

Generalized Ebs

Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa

Acantholysis Bullosa

Eb
Diffuse Palmoplantar Keratoderma

Diffuse Palmoplantar Hyperkeratosis

Diffuse Ppk

Diffuse Keratosis Palmoplantaris
Transient Bullous Dermolysis Of The Newborn

TBDN

Transient Bullous Of The Newborn

Epidermolysis Bullosa Dystrophica, Neonatal Form

Dystrophic Epidermolysis Bullosa, Neonatal

Deb, Bullous Dermolysis Of The Newborn

Deb-Bdn

Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form

Self-Improving Dystrophic Epidermolysis Bullosa

Self-Improving Deb

Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Ureterocele
Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

EBS1A

Ebsdm

Epidermolysis Bullosa Simplex Dowling-Meara Type

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Dm

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Ebs-Gen Sev

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Generalized Severe Epidermolysis Bullosa Simplex

Dowling-Meara Type Epidermolysis Bullosa Simplex

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Dm-Ebs

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Herpetiformis Dowling-Meara
Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced
Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07364 KLHL24 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus KLHL24 VGNC VGNC:63149
Bos taurus KLHL24 VGNC VGNC:30652
Canis familiaris KLHL24 VGNC VGNC:42458
Macaca mulatta KLHL24 VGNC VGNC:74128
Rattus norvegicus KLHL24 RGD RGD:727971
Mus musculus KLHL24 MGD MGI:1923035
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