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Kelch like family member 40 gene (Gene Id: 131377  Symbol: KLHL40) in Homo sapiens

Functional stage: Differentiation

Involved disease information

Category	Linked disease	Linked articles	Other references
Muscular dystrophy	Nemaline Myopathy	23746549	NA
Nemaline Myopathy: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. https://ghr.nlm.nih.gov/condition/nemaline-myopathy

Refseq information: 4

SNo.	Status	RNA nucleotide accession	Protein accession	Genomic nucleotide accession	Start position on genomic DNA	End position on genomic DNA	Orientation	Assembly	Symbol	UniProtkb ID	PDB ID
1	VALIDATED	-	-	NG_033035.1	5000	11927	+	-	KLHL40	Q2TBA0	4ASC
2	VALIDATED	NM_152393.3	NP_689606.2	NC_000003.12	42685518	42692445	+	Reference GRCh3	KLHL40	Q2TBA0	4ASC
3	VALIDATED	NM_152393.3	NP_689606.2	NC_018914.2	42678185	42685112	+	Alternate CHM1_	KLHL40	Q2TBA0	4ASC
4	VALIDATED	NM_152393.3	NP_689606.2	NG_033035.1	5000	11927	+	-	KLHL40	Q2TBA0	4ASC

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Pubmed links

12477932   14702039   15489334   20301465   23284306   23676014   23746549   24960163   25192599   25416956   27762439   28514442  

GO Term: 14
SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	contribute	ubiquitin-protein transferase activity	Function	No
2	Homo sapiens	ISS	-	cytoplasm	Component	No
3	Homo sapiens	IEA	-	protein ubiquitination	Process	No
4	Homo sapiens	IBA	-	negative regulation of protein ubiquitination	Process	No
5	Homo sapiens	ISS	-	positive regulation of protein ubiquitination	Process	No
6	Homo sapiens	IBA	-	Cul3-RING ubiquitin ligase complex	Component	No
7	Homo sapiens	ISS	-	Cul3-RING ubiquitin ligase complex	Component	No
8	Homo sapiens	IBA	-	A band	Component	No
9	Homo sapiens	IBA	-	I band	Component	No
10	Homo sapiens	IBA	-	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	Process	No
11	Homo sapiens	ISS	-	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Process	No
12	Homo sapiens	IBA	-	skeletal muscle fiber development	Process	No
13	Homo sapiens	ISS	-	skeletal muscle fiber development	Process	No
14	Homo sapiens	ISS	-	skeletal muscle fiber differentiation	Process	No