Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10324
Gene name	Kelch like family member 41
Gene symbol	KLHL41
Synonyms (NCBI Gene)	KBTBD10Krp1SARCOSIN
Chromosome	2
Chromosome location	2q31.1
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 associa

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882235	A>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs730882257	T>ACTC	Pathogenic	Inframe insertion, coding sequence variant
rs730882258	AGGAAATA>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882259	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs730882260	C>T	Pathogenic	Missense variant, coding sequence variant
rs775513051	->A,AAAAAAA,AAAAAAAAAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1131691443	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1247404453	TTACTTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1288106608	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs1574349073	ATGAGAAAAAATTCATCGATTGCAC>TGTCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574349645	TGACACAGCA>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0005515	Function	Protein binding	IPI	23414517, 25416956, 30986853, 32296183, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19424503
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	24268659
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0006941	Process	Striated muscle contraction	TAS	9655184
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016567	Process	Protein ubiquitination	IDA	15983046
GO:0030239	Process	Myofibril assembly	IEA
GO:0030239	Process	Myofibril assembly	ISS
GO:0031143	Component	Pseudopodium	IEA
GO:0031430	Component	M band	IBA
GO:0031430	Component	M band	IEA
GO:0031430	Component	M band	ISS
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	15983046
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IDA	24268659
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0045661	Process	Regulation of myoblast differentiation	IBA
GO:0045661	Process	Regulation of myoblast differentiation	IEA
GO:0045661	Process	Regulation of myoblast differentiation	ISS
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA
GO:2000291	Process	Regulation of myoblast proliferation	IBA
GO:2000291	Process	Regulation of myoblast proliferation	IEA
GO:2000291	Process	Regulation of myoblast proliferation	ISS
GO:2001014	Process	Regulation of skeletal muscle cell differentiation	IBA
GO:2001014	Process	Regulation of skeletal muscle cell differentiation	IEA

MIM	HGNC	e!Ensembl
607701	16905	ENSG00000239474

O60662

Protein name

Kelch-like protein 41 (Kel-like protein 23) (Kelch repeat and BTB domain-containing protein 10) (Kelch-related protein 1) (Sarcosin)

Protein function

Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Requi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	23 → 130	BTB/POZ domain	Domain
PF07707	BACK	135 → 237	BTB And C-terminal Kelch	Domain
PF01344	Kelch_1	334 → 385	Kelch motif	Repeat
PF01344	Kelch_1	387 → 434	Kelch motif	Repeat
PF01344	Kelch_1	437 → 482	Kelch motif	Repeat
PF01344	Kelch_1	484 → 529	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Sarcomeric muscle.

Sequence

MDSQRELAEELRLYQSTLLQDGLKDLLDEKKFIDCTLKAGDKSLPCHRLILSACSPYFRE
YFLSEIDEAKKKEVVLDNVDPAILDLIIKYLYSASIDLNDGNVQDIFALASRFQIPSVFT
VCVSYLQKRLAPGNCLAILRLGLLLDCPRLAISAREFVSDRFVQICKEEDFMQLSPQELI
SVISNDSLNVEKEEAVFEAVMKWVRTDKENRVKNLSEVFDCIRFRLMTEKYFKDHVEKDD
IIKSNPDLQKKIKVLKDAFAGKLPEPSKNAAKTGAGEVNGDVGDEDLLPGYLNDIPRHGM
FVKDLILLVNDTAAVAYDPTENECYLTALAEQIPRNHSSIVTQQNQIYVVGGLYVDEENK
DQPLQSYFFQLDSIASEWVGLPPLPSARCLFGLGEVDDKIYVVAGKDLQTEASLDSVLCY
DPVAAKWNEVKKLPIKVYGHNVISHKGMIYCLGGKTDDKKCTNRVFIFNPKKGDWKDLAP
MKIPRSMFGVAVHKGKIVIAGGVTEDGLSASVEAFDLTTNKWDVMTEFPQERSSISLVSL
AGSLYAIGGFAMIQLESKEFAPTEVNDIWKYEDDKKEWAGMLKEIRYASGASCLATRLNL
FKLSKL

Sequence length

606

Interactions

View interactions

	Reactome
			Neddylation Antigen processing: Ubiquitination & Proteasome degradation

282

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
KLHL41-related disorder	Likely pathogenic; Pathogenic	rs749464576	RCV003892845
Nemaline myopathy	Likely pathogenic; Pathogenic	rs730882235	RCV000162159
Nemaline myopathy 9	Pathogenic; Likely pathogenic	rs779140230, rs2105309832, rs2105312506, rs775513051, rs749464576, rs2105312600, rs754460870, rs730882257, rs730882258, rs730882235, rs730882259, rs730882260, rs2468054831, rs1317318638, rs2468062223 View all (8 more)	RCV001386119 RCV001388342 RCV001383527 RCV001782347 RCV001782348 RCV001963163 RCV001963625 RCV000162074 RCV000162075 RCV000162076 RCV000162077 RCV000162078 RCV002785664 RCV002852451 RCV002848311 RCV002953926 RCV003030516 RCV003155902 RCV003747030 RCV003746284 RCV000685819 RCV000705302 RCV000799899 RCV000800431

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs143361344	RCV005868268
Familial pancreatic carcinoma	Benign	rs143361344	RCV005868266
Lymphoma	Benign	rs143361344	RCV005868267
Nonpapillary renal cell carcinoma	Benign	rs143361344	RCV005868263
Ovarian cancer	Benign	rs143361344	RCV005868264
Uveal melanoma	Benign	rs143361344	RCV005868265

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cardiomyopathy Hypertrophic	Associate	11583900
Melanoma Cutaneous Malignant	Stimulate	34757537
Neuromuscular Diseases	Associate	26578207

KLHL41 (kelch like family member 41)