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KLHL41 - kelch like family member 41 Gene

Also Known as Krp1; KBTBD10; SARCOSIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10324

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23414517	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	15983046	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	15983046	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19424503	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	24268659	GOA
located in sarcoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	24268659	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHL41 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
606 a.a.

Protein Preferred Names	Protein Names
kelch-like protein 41	kel-like protein 23

KLHL41 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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]

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184150	EN10		/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	KLHL41	NCBI