KLHL41 - kelch like family member 41 Gene

中文名称：kelch 样家族成员 41

种属: Homo sapiens

同用名: Krp1; KBTBD10; SARCOSIN

基因 ID: 10324 | 基因类型: protein coding

关于 KLHL41

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:169,509,702-169,526,258 (from NCBI)

This gene has 3 transcripts (splice variants), 271 orthologues, 54 paralogues and is associated with 5 phenotypes. Biased expression in prostate (RPKM 65.0), esophagus (RPKM 43.9) and 2 other tissues.

功能概要

该基因是 kelch-like 家族的成员。编码的蛋白质包含一个 BACK 结构域、一个 BTB/POZ 结构域和 5 个 Kelch 重复序列。这种蛋白质被认为在骨骼肌发育和维持中起作用。该基因的突变与线状肌病 (NM) 有关，这是一种罕见的先天性肌肉疾病。[RefSeq 提供，2015 年 3 月]

This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]

KLHL41 基因产物(1)

mRNA	Protein	Name
NM_006063.3	NP_006054.2	kelch-like protein 41

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	23414517	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein ubiquitination	IDA IDA: 通过直接分析推断	15983046	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	15983046	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	19424503	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	24268659	GOA
located in sarcoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	24268659	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

KLHL41 蛋白结构

BTB

BACK

Kelch_1

0
100
200
300
400
500
606 a.a.

蛋白主名

其他名称

kelch-like protein 41

kel-like protein 23

KLHL41 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	KLHL41	O60662	NEB	Homo sapiens	P20929	PLA	23414517
Intra	KLHL41	O60662	NEB	Homo sapiens	P20929	Y2H	30986853
Intra	KLHL41	O60662	SPMIP2	Homo sapiens	Q96LM5	Y2H Prey Pooling	32296183
Intra	KLHL41	O60662	SPMIP2	Homo sapiens	Q96LM5	Validated Y2H	32296183
Intra	KLHL41	O60662	SPMIP2	Homo sapiens	Q96LM5	Y2H Array	32296183
Intra	KLHL41	O60662	NRAP	Homo sapiens	Q86VF7	Anti Tag CoIP	30986853
Intra	KLHL41	O60662	NRAP	Homo sapiens	Q86VF7	Y2H Fragment Pooling	23414517
Intra	KLHL41	O60662	NRAP	Homo sapiens	Q86VF7	HTRF	30986853
Intra	KLHL41	O60662	NRAP	Homo sapiens	Q86VF7	Y2H	30986853
Intra	KLHL41	O60662	RCHY1	Homo sapiens	Q96PM5	Validated Y2H	25416956
Intra	KLHL41	O60662	RCHY1	Homo sapiens	Q96PM5	Y2H Prey Pooling	32296183
Intra	KLHL41	O60662	RCHY1	Homo sapiens	Q96PM5	Validated Y2H	32296183
Intra	KLHL41	O60662	RCHY1	Homo sapiens	Q96PM5	Y2H Array	32296183
Intra	KLHL41	O60662	NEB	Homo sapiens	P20929-4	Y2H Fragment Pooling	23414517

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

Nemaline Myopathy 9

NEM9	Myopathy, Nemaline, Type 9

Intermediate Congenital Nemaline Myopathy

Intermediate Nemaline Myopathy

Intermediate Congenital Nm

Typical Congenital Nemaline Myopathy

Typical Nemaline Myopathy

Severe Congenital Nemaline Myopathy

Severe Congenital Nm

Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset

Nemaline Myopathy

Rod Myopathy	Nemaline Body Disease
Nemaline Rod Myopathy	Myopathies, Nemaline
Nm	Nemaline Rod Disease
Rod Body Disease	Rod-Body Myopathy
Myopathy, Nemaline	Congenital Rod Disease
Nem	Nemaline Bodies
Myopathies Nemaline

Nemaline Myopathy 8

NEM8	Nemaline Myopathy 8, Autosomal Recessive
Myopathy, Nemaline, Type 8

Myopathy

Muscular Diseases

Myopathies

Combined Oxidative Phosphorylation Deficiency 11

COXPD11	Combined Oxidative Phosphorylation Defect Type 11
Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect	Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect
Combined Oxidative Phosphorylation Deficiency, Type 11

Congenital Structural Myopathy

Retinitis Pigmentosa 7

Leber Congenital Amaurosis 18	RP7
Retinitis Pigmentosa 7, Digenic Form	Retinitis Pigmentosa 7 And Digenic Form
Retinitis Pigmentosa 7, Digenic	LCA18
Retinitis Pigmentosa 7 Digenic

Spinal Muscular Atrophy Type 0

Very Severe Spinal Muscular Atrophy

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

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]

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07369	KLHL41 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	KLHL41	VGNC	VGNC:74062
Canis familiaris	KLHL41	VGNC	VGNC:42472
Bos taurus	KLHL41	VGNC	VGNC:30666
Rattus norvegicus	KLHL41	RGD	RGD:620852
Mus musculus	KLHL41	MGD	MGI:2683854

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