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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10324
Gene name Gene Name - the full gene name approved by the HGNC.	Kelch like family member 41
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KLHL41
Synonyms (NCBI Gene) Gene synonyms aliases	KBTBD10, Krp1, SARCOSIN
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nemaline myopathy	nemaline myopathy 9	rs1574349645, rs1288106608, rs730882257, rs730882258, rs730882235, rs730882259, rs730882260, rs775513051, rs1247404453	N/A
nemaline myopathy	Nemaline myopathy	rs730882235	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital Nemaline Myopathy	severe congenital nemaline myopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (3)

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

KLHL41 (kelch like family member 41)