###Gene summary
#Tax_id	Org_name	GeneID	status	Symbol	Functional_stage	Aliases	Description	Other_designations	Map_location	Chromosome	Genomic_nucleotide_accession	Start_pos_on_genomic_acc	End_pos_on_genomic_acc	Orientation	Exon_count	OMIM
9606	Homo sapiens	131377	live	KLHL40	Differentiation	KBTBD5, NEM8, SRYP, SYRP	Kelch like family member 40,kelch-like protein 40|kelch repeat and BTB (POZ) domain containing 5|kelch repeat and BTB domain-containing protein 5|nemaline myopathy type 8|sarcosy	3p22.1	3	NC_000003.12	42685519	42692446	plus	6	615340


###Disease involvement
#GeneID	Symbol	Category	Disease	PubMedID	Other reference
131377	KLHL40	Muscular dystrophy	Nemaline Myopathy	23746549	-
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.


###RefSeq information
#SNo.	GeneID	Symbol	Status	RNA_nuc_accver	CDPpos	Prot_accver	Genomic_nuc_accver	Start_pos_on_genomic_acc	End_pos_on_genomic_acc	Orientation	Assembly	Mature_peptide_accver	UniProtKBID	PDBID
1	131377	KLHL40	VALIDATED	-		-	NG_033035.1	5000	11927	+	-	-	Q2TBA0	4ASC
2	131377	KLHL40	VALIDATED	NM_152393.3	101..1966	NP_689606.2	NC_000003.12	42685518	42692445	+	Reference GRCh3	-	Q2TBA0	4ASC
3	131377	KLHL40	VALIDATED	NM_152393.3	101..1966	NP_689606.2	NC_018914.2	42678185	42685112	+	Alternate CHM1_	-	Q2TBA0	4ASC
4	131377	KLHL40	VALIDATED	NM_152393.3	101..1966	NP_689606.2	NG_033035.1	5000	11927	+	-	-	Q2TBA0	4ASC


###Gene Ontology
#SNo.	TaxonID	GeneID	GOID	Evidence	Qualifier	GOterm	PubMedID	Category
1	9606	131377	GO:0004842	IBA	contribute	ubiquitin-protein transferase activity	0	Function
2	9606	131377	GO:0005737	ISS	-	cytoplasm	0	Component
3	9606	131377	GO:0016567	IEA	-	protein ubiquitination	0	Process
4	9606	131377	GO:0031397	IBA	-	negative regulation of protein ubiquitination	0	Process
5	9606	131377	GO:0031398	ISS	-	positive regulation of protein ubiquitination	0	Process
6	9606	131377	GO:0031463	IBA	-	Cul3-RING ubiquitin ligase complex	0	Component
7	9606	131377	GO:0031463	ISS	-	Cul3-RING ubiquitin ligase complex	0	Component
8	9606	131377	GO:0031672	IBA	-	A band	0	Component
9	9606	131377	GO:0031674	IBA	-	I band	0	Component
10	9606	131377	GO:0032435	IBA	-	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	0	Process
11	9606	131377	GO:0032436	ISS	-	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	0	Process
12	9606	131377	GO:0048741	IBA	-	skeletal muscle fiber development	0	Process
13	9606	131377	GO:0048741	ISS	-	skeletal muscle fiber development	0	Process
14	9606	131377	GO:0098528	ISS	-	skeletal muscle fiber differentiation	0	Process