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  2. KLHL3 - kelch like family member 3 Gene

KLHL3 - kelch like family member 3 Gene

中文名称:kelch 样家族成员 3

种属: Homo sapiens

同用名: PHA2D

基因 ID: 26249 | 基因类型: protein coding

关于 KLHL3

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:137,617,500-137,736,089 (from NCBI)

This gene has 14 transcripts (splice variants), 205 orthologues, 54 paralogues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 5.9), heart (RPKM 4.0) and 23 other tissues.

功能概要

该基因普遍表达并编码一种全长蛋白质,该蛋白质具有一个 N 端 BTB 结构域,后跟一个 BACK 结构域,并在 C 端有六个 kelch 样重复序列。这些 kelch 样重复序列通过 BTB 结构域与 cullin-RING E3 泛素连接酶 (CRL) 复合物的 CUL3 (cullin 3) 组分的相互作用促进结合蛋白的底物泛素化。该基因的突变会导致 IID 型假性醛固酮增多症 (PHA2D) ;一种罕见的孟德尔综合征,以高血压、高钾血症和代谢性酸中毒为特征。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2012 年 3 月]

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin Ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

KLHL3 基因产物(3)

mRNA Protein Name
NM_001257194.1 NP_001244123.1 kelch-like protein 3 isoform 2
NM_001257195.2 NP_001244124.1 kelch-like protein 3 isoform 3
NM_017415.3 NP_059111.2 kelch-like protein 3 isoform 1
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 cullin family protein binding IPI
IPI: 通过物理相互作用推断
14528312 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22406640 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
23387299 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in distal tubule morphogenesis IMP
IMP: 通过突变表型推断
22406640 GOA
involved in monoatomic ion homeostasis IMP
IMP: 通过突变表型推断
23453970 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
35093948 GOA
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
23576762 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
23453970 GOA
involved in renal sodium ion absorption IDA
IDA: 通过直接分析推断
35093948 GOA
involved in renal sodium ion absorption IMP
IMP: 通过突变表型推断
22406640 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
23453970 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
35093948 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
23453970 GOA
located in cytosol IDA
IDA: 通过直接分析推断
22406640 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

KLHL3 蛋白结构

BTB

BTB: BTB/POZ domain (40 - 146)

BACK

BACK: BTB And C-terminal Kelch (152 - 254)

Kelch_1

Kelch_1: Kelch motif (302 - 334)

Kelch_1

Kelch_1: Kelch motif (336 - 381)

Kelch_1

Kelch_1: Kelch motif (383 - 428)

Kelch_1

Kelch_1: Kelch motif (430 - 477)

Kelch_1

Kelch_1: Kelch motif (479 - 524)

Kelch_1

Kelch_1: Kelch motif (527 - 569)

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

kelch-like protein 3

KLHL3 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
种属内
KLHL3 Q9UH77 LAMP2 Homo sapiens P13473-2 32814053
种属内
KLHL3 Q9UH77 LAMP2 Homo sapiens P13473-2 32814053
种属内
KLHL3 Q9UH77 LAMP2 Homo sapiens P13473-2 32814053
种属内
KLHL3 Q9UH77 FGFR3 Homo sapiens P22607 32814053
种属内
KLHL3 Q9UH77 FGFR3 Homo sapiens P22607 32814053
种属内
KLHL3 Q9UH77 FGFR3 Homo sapiens P22607 32814053
种属内
KLHL3 Q9UH77 HRAS Homo sapiens P01112 32814053
种属内
KLHL3 Q9UH77 HRAS Homo sapiens P01112 32814053
种属内
KLHL3 Q9UH77 HRAS Homo sapiens P01112 32814053
种属内
KLHL3 Q9UH77 GSN Homo sapiens P06396 32814053
种属内
KLHL3 Q9UH77 GSN Homo sapiens P06396 32814053
种属内
KLHL3 Q9UH77 GSN Homo sapiens P06396 32814053
种属内
KLHL3 Q9UH77 CUL3 Homo sapiens Q13618 23665031
种属内
KLHL3 Q9UH77 CUL3 Homo sapiens Q13618 31515488
种属内
KLHL3 Q9UH77 CUL3 Homo sapiens Q13618 33961781
种属内
KLHL3 Q9UH77 CASP6 Homo sapiens P55212 32814053
种属内
KLHL3 Q9UH77 CASP6 Homo sapiens P55212 32814053
种属内
KLHL3 Q9UH77 CASP6 Homo sapiens P55212 32814053
种属内
KLHL3 Q9UH77 KLHL12 Homo sapiens Q53G59 32296183
种属内
KLHL3 Q9UH77 KLHL12 Homo sapiens Q53G59 32296183
种属内
KLHL3 Q9UH77 KLHL12 Homo sapiens Q53G59 33961781
种属内
KLHL3 Q9UH77 KLHL2 Homo sapiens O95198 33961781
种属内
KLHL3 Q9UH77 KEAP1 Homo sapiens Q14145 32296183
种属内
KLHL3 Q9UH77 KEAP1 Homo sapiens Q14145 33961781
种属内
KLHL3 Q9UH77 KEAP1 Homo sapiens Q14145 32296183
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
Pseudohypoaldosteronism, Type Iid

Pseudohypoaldosteronism Type 2d

PHA2D

Familial Hyperkalemic Hypertension

Fhht

Pseudohypoaldosteronism 2d

Pseudohypoaldosteronism, Type Iia

Pseudohypoaldosteronism Type 2a

PHA2A

Hyperpotassemia And Hypertension, Familial

Hypertensive Hyperkalemia, Familial

Gordon Hyperkalemia-Hypertension Syndrome

Pseudohypoaldosteronism, Type Ii

Pseudohypoaldosteronism, Type Iie

Pseudohypoaldosteronism Type 2e

PHA2E

Familial Hyperkalemic Hypertension

Gordon'S Syndrome

Phaii

Pseudohypoaldosteronism Type 2

Gordon Hyperkalemia-Hypertension Syndrome

Pseudohypoaldosteronism Type Ii

Chloride Shunt Syndrome

Hyperpotassemia And Hypertension Familial

Pha2

Familial Hyperpotassemia And Hypertension

Familial Hypertensive Hyperkalemia

Fhht

Hyperkalemia-Hypertension Syndrome, Gordon Type

Hypertensive Hyperkalemia

Mineralocorticoid Resistant Hyperkalemia

Spitzer-Weinstein Syndrome

Pseudohypoaldosteronism 2e

Pseudohypoaldosteronism, Type Ii

Pseudohypoaldosteronism, Type Iid

Hyperpotassemia And Hypertension, Familial

Metabolic Acidosis
Pseudohypoaldosteronism
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Arthrogryposis, Distal, Type 3

Gordon Syndrome

DA3

Distal Arthrogryposis Type 3

Arthrogryposis Multiplex Congenita, Distal, Type Iia

Camptodactyly, Cleft Palate, And Clubfoot

Camptodactyly-Cleft Palate-Clubfoot Syndrome

Distal Arthrogryposis Multiplex Congenita Type Iia

Arthrogryposis Distal Type 3

Distal Arthrogryposis Type Iia

Arthrogryposis, Distal, 3

Pseudohypoaldosteronism, Type Ii

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Hypomagnesemia 3, Renal

HOMG3

Renal Hypomagnesemia 3

Fhhnc Without Severe Ocular Involvement

Renal Hypomagnesemia Type 3

Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium

Hypomagnesemia, Isolated Renal

Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis

Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Isolated Renal Hypomagnesemia

Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium

Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Hypomagnesemia 3

Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis

Fhhnc

Hhn

Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis

Hypomagnesemia, Type 3, Renal

Primary Hypomagnesemia

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia

Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

Potassium And Magnesium Depletion

GTLMNS

Gitelman'S Syndrome

Gs

Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

Bartter Syndrome Gitelman Variant

Bartter Syndrome Hypocalciuric Variant

Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Miliaria

Eccrine Miliaria

Heat Rash

Sweat Rash

Sweat Retention Syndrome

Miliaria Rubra

Miliaria

Prickly Heat

Miliaria Crystallina

Glomeruloid Hemangioma
Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters Syndrome

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

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

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 KLHL3 RGD RGD:1565218
Mus musculus KLHL3 MGD MGI:2445185
Macaca mulatta KLHL3 VGNC VGNC:74186
Felis catus KLHL3 VGNC VGNC:67959
Bos taurus KLHL3 VGNC VGNC:30657
Canis familiaris KLHL3 VGNC VGNC:42463
Others KLHL3 NCBI