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Aliases for KLHL41 Gene

Aliases for KLHL41 Gene

  • Kelch Like Family Member 41 2 3 5
  • Kelch Repeat And BTB (POZ) Domain Containing 10 2 3
  • Sarcomeric Muscle Protein 2 3
  • Kelch-Related Protein 1 3 4
  • Kel-Like Protein 23 3 4
  • SARCOSIN 3 4
  • KBTBD10 3 4
  • Krp1 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 10 4
  • Kelch-Like 41 (Drosophila) 2
  • Kelch-Like Protein 41 3

External Ids for KLHL41 Gene

Previous HGNC Symbols for KLHL41 Gene

  • KBTBD10

Previous GeneCards Identifiers for KLHL41 Gene

  • GC02P170367

Summaries for KLHL41 Gene

Entrez Gene Summary for KLHL41 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 associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]

GeneCards Summary for KLHL41 Gene

KLHL41 (Kelch Like Family Member 41) is a Protein Coding gene. Diseases associated with KLHL41 include Nemaline Myopathy 9 and Intermediate Congenital Nemaline Myopathy. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KLHL40.

UniProtKB/Swiss-Prot for KLHL41 Gene

  • 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. Required for pseudopod elongation in transformed cells.

Gene Wiki entry for KLHL41 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL41 Gene

Genomics for KLHL41 Gene

Regulatory Elements for KLHL41 Gene

Enhancers for KLHL41 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F169507 1.1 Ensembl ENCODE 0.8 +1.3 1280 7.9 ATF1 PKNOX1 FEZF1 ZNF766 FOS JUNB REST TSHZ1 MEF2D MAFF CCDC173 BBS5 PHOSPHO2 FASTKD1 KLHL23 KLHL41 GC02P169518
GH02F169504 0.2 Ensembl 0.8 -4.9 -4887 0.4 HDGF HDAC1 ATF1 PKNOX1 TBL1XR1 ARNT RAD21 CHAMP1 ZNF766 ZNF143 PHOSPHO2 KLHL41 ENSG00000251569
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KLHL41 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL41 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001548618 1898 3600 PKNOX1 FEZF1 ZNF766 FOS ZNF843 ZNF589 IKZF1 KDM1A IRF1 BCOR

Genomic Location for KLHL41 Gene

Chromosome:
2
Start:
169,509,702 bp from pter
End:
169,526,262 bp from pter
Size:
16,561 bases
Orientation:
Plus strand

Genomic View for KLHL41 Gene

Genes around KLHL41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL41 Gene

Proteins for KLHL41 Gene

  • Protein details for KLHL41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60662-KLH41_HUMAN
    Recommended name:
    Kelch-like protein 41
    Protein Accession:
    O60662
    Secondary Accessions:
    • Q53R42

    Protein attributes for KLHL41 Gene

    Size:
    606 amino acids
    Molecular mass:
    68037 Da
    Quaternary structure:
    • Interacts with NRAP. Interacts with LASP1. Part of a complex that contains CUL3, RBX1 and KLHL41.

    Alternative splice isoforms for KLHL41 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL41 Gene

Post-translational modifications for KLHL41 Gene

  • Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination.
  • Ubiquitination at Lys 583
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL41 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL41 Gene

Domains & Families for KLHL41 Gene

Gene Families for KLHL41 Gene

Suggested Antigen Peptide Sequences for KLHL41 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60662

UniProtKB/Swiss-Prot:

KLH41_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 5 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KLHL41: view

Function for KLHL41 Gene

Molecular function for KLHL41 Gene

UniProtKB/Swiss-Prot 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. Required for pseudopod elongation in transformed cells.

Gene Ontology (GO) - Molecular Function for KLHL41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 23414517
genes like me logo Genes that share ontologies with KLHL41: view
genes like me logo Genes that share phenotypes with KLHL41: view

Human Phenotype Ontology for KLHL41 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL41 Gene

Localization for KLHL41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL41 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, pseudopodium. Cell projection, ruffle. Cytoplasm, myofibril, sarcomere, M line. Sarcoplasmic reticulum membrane. Endoplasmic reticulum membrane. Note=Predominantly cytoplasmic but can colocalize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia. {ECO:0000269 PubMed:19424503}.

Gene Ontology (GO) - Cellular Components for KLHL41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA 19424503
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA 24268659
genes like me logo Genes that share ontologies with KLHL41: view

No data available for Subcellular locations from COMPARTMENTS for KLHL41 Gene

Pathways & Interactions for KLHL41 Gene

genes like me logo Genes that share pathways with KLHL41: view

Gene Ontology (GO) - Biological Process for KLHL41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006941 striated muscle contraction TAS 9655184
GO:0016567 protein ubiquitination IDA 15983046
GO:0030239 myofibril assembly ISS --
GO:0031275 regulation of lateral pseudopodium assembly IEA --
GO:0035914 skeletal muscle cell differentiation ISS --
genes like me logo Genes that share ontologies with KLHL41: view

No data available for SIGNOR curated interactions for KLHL41 Gene

Transcripts for KLHL41 Gene

mRNA/cDNA for KLHL41 Gene

Unigene Clusters for KLHL41 Gene

Kelch-like family member 41:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL41 Gene

No ASD Table

Relevant External Links for KLHL41 Gene

GeneLoc Exon Structure for
KLHL41
ECgene alternative splicing isoforms for
KLHL41

Expression for KLHL41 Gene

mRNA expression in normal human tissues for KLHL41 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL41 Gene

This gene is overexpressed in Muscle - Skeletal (x49.8).

Protein differential expression in normal tissues from HIPED for KLHL41 Gene

This gene is overexpressed in Esophagus (50.5), Tonsil (9.8), and Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL41 Gene



Protein tissue co-expression partners for KLHL41 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLHL41 Gene:

KLHL41

SOURCE GeneReport for Unigene cluster for KLHL41 Gene:

Hs.50550

mRNA Expression by UniProt/SwissProt for KLHL41 Gene:

O60662-KLH41_HUMAN
Tissue specificity: Sarcomeric muscle.
genes like me logo Genes that share expression patterns with KLHL41: view

Primer Products

Orthologs for KLHL41 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD10 34
  • 99.94 (n)
cow
(Bos Taurus)
Mammalia KBTBD10 34 35
  • 94 (n)
dog
(Canis familiaris)
Mammalia KLHL41 34 35
  • 93.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL41 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl41 34 16 35
  • 88.67 (n)
rat
(Rattus norvegicus)
Mammalia Klhl41 34
  • 88.12 (n)
chicken
(Gallus gallus)
Aves KBTBD10 34
  • 79.26 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl41 34
  • 71.45 (n)
MGC75722 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398449 34
zebrafish
(Danio rerio)
Actinopterygii klhl41a 34 35
  • 64.06 (n)
klhl41b 35
  • 61 (a)
OneToMany
sbcb52 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToMany
Species where no ortholog for KLHL41 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL41 Gene

ENSEMBL:
Gene Tree for KLHL41 (if available)
TreeFam:
Gene Tree for KLHL41 (if available)

Paralogs for KLHL41 Gene

Paralogs for KLHL41 Gene

(3) SIMAP similar genes for KLHL41 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KLHL41: view

Variants for KLHL41 Gene

Sequence variations from dbSNP and Humsavar for KLHL41 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs730882260 Nemaline myopathy 9 (NEM9) [MIM:615731], Pathogenic 169,514,701(+) GGCTT(C/T)GCTGG reference, missense
rs730882235 Pathogenic 169,510,419(+) TAAAA(-/A)CCTTA reference, frameshift-variant
rs730882257 Pathogenic 169,510,237(+) ATTTC(ACTC/T)GCCCG cds-indel
rs730882258 Pathogenic 169,525,623(+) GTTGA(-/AGGAAATA)CGTTA reference, frameshift-variant
rs730882259 Pathogenic 169,510,359(+) AGAAG(-/AAG)CAGTA cds-indel

Structural Variations from Database of Genomic Variants (DGV) for KLHL41 Gene

Variant ID Type Subtype PubMed ID
dgv4104n100 CNV gain 25217958
dgv7157n54 CNV loss 21841781
nsv1011368 CNV loss 25217958
nsv518894 CNV gain 19592680
nsv521651 CNV gain 19592680
nsv583602 CNV loss 21841781
nsv583603 CNV loss 21841781
nsv818095 CNV loss 17921354

Variation tolerance for KLHL41 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL41 Gene

Human Gene Mutation Database (HGMD)
KLHL41
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL41 Gene

Disorders for KLHL41 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KLHL41 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 9
  • nem9
intermediate congenital nemaline myopathy
  • intermediate congenital nm
severe congenital nemaline myopathy
  • severe congenital nm
childhood-onset nemaline myopathy
  • mild nemaline myopathy
typical congenital nemaline myopathy
  • typical nemaline myopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KLH41_HUMAN
  • Nemaline myopathy 9 (NEM9) [MIM:615731]: An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLHL41

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL41
genes like me logo Genes that share disorders with KLHL41: view

No data available for Genatlas for KLHL41 Gene

Publications for KLHL41 Gene

  1. DNA sequence and muscle-specific expression of human sarcosin transcripts. (PMID: 9655184) Taylor A. … Carlson K.D. (Mol. Cell. Biochem. 1998) 2 3 4 64
  2. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. (PMID: 24268659) Gupta V.A. … Beggs A.H. (Am. J. Hum. Genet. 2013) 3 4 64
  3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang X.J. … Zhang D.D. (PLoS ONE 2009) 3 4 64
  4. Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PMID: 15983046) Zhang D.D. … Hannink M. (J. Biol. Chem. 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for KLHL41 Gene

Sources for KLHL41 Gene

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