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Aliases for KLHL41 Gene

Aliases for KLHL41 Gene

  • Kelch-Like Family Member 41 2 3
  • SARCOSIN 3 4 6
  • KBTBD10 3 4 6
  • 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
  • Krp1 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 10 4
  • Kelch-Like 41 (Drosophila) 2
  • Kelch-Like Protein 41 3
  • NEM9 6

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 severe congenital nemaline myopathy. An important paralog of this gene is KBTBD6.

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

Genomic Location for KLHL41 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL41 Gene

No data available for Regulatory Elements 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

Proteomics data for KLHL41 Gene at MOPED

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 Lys583
  • 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 for KLHL41 Gene

Gene Families for KLHL41 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

Graphical View of Domain Structure for InterPro Entry

O60662

UniProtKB/Swiss-Prot:

KLH41_HUMAN :
  • O60662
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

No data available for Suggested Antigen Peptide Sequences for KLHL41 Gene

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:0005515 protein binding IPI 23414517
genes like me logo Genes that share ontologies with KLHL41: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 --
GO:0005789 endoplasmic reticulum membrane IDA 24268659
GO:0005856 cytoskeleton ISS --
genes like me logo Genes that share ontologies with KLHL41: view

No data available for Subcellular locations from COMPARTMENTS for KLHL41 Gene

Pathways for KLHL41 Gene

SuperPathways for KLHL41 Gene

No Data Available

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 Pathways by source for KLHL41 Gene

Transcripts for KLHL41 Gene

mRNA/cDNA for KLHL41 Gene

Unigene Clusters for KLHL41 Gene

Kelch-like family member 41:
Representative Sequences:

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 (49.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHL41 Gene

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 expressions with KLHL41: view

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 35
  • 99.94 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia KBTBD10 35
  • 94 (n)
  • 97.52 (a)
KBTBD10 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL41 35
  • 93.89 (n)
  • 97.85 (a)
KLHL41 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl41 35
  • 88.67 (n)
  • 95.38 (a)
Klhl41 16
Klhl41 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL41 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl41 35
  • 88.12 (n)
  • 95.21 (a)
chicken
(Gallus gallus)
Aves KBTBD10 35
  • 79.26 (n)
  • 85.48 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398449 35
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl41 35
  • 71.45 (n)
  • 76.57 (a)
MGC75722 35
zebrafish
(Danio rerio)
Actinopterygii klhl41a 35
  • 64.06 (n)
  • 61.63 (a)
klhl41a 36
  • 60 (a)
OneToMany
klhl41b 36
  • 61 (a)
OneToMany
sbcb52 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for KLHL41:
  • 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

Selected 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 MAF
rs1320327 -- 169,524,010(-) TTTAC(A/G)TATAG intron-variant
rs2293058 -- 169,514,466(+) GATAT(C/T)TGACT intron-variant
rs2353190 -- 169,522,505(+) AAGGC(C/T)GGGAA intron-variant
rs2353191 -- 169,522,659(+) aattt(C/T)tggag intron-variant
rs3754922 -- 169,507,725(+) TGTTT(G/T)TTTCA upstream-variant-2KB

Relevant External Links for KLHL41 Gene

HapMap Linkage Disequilibrium report
KLHL41
Human Gene Mutation Database (HGMD)
KLHL41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KLHL41 Gene

Disorders for KLHL41 Gene

(1) OMIM Diseases for KLHL41 Gene (607701)

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.
genes like me logo Genes that share disorders with KLHL41: view

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
  2. Krp1, a novel kelch related protein that is involved in pseudopod elongation in transformed cells. (PMID: 10713668) Spence H.J. … Ozanne B.W. (Oncogene 2000) 3 4
  3. 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
  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
  5. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang X.J. … Zhang D.D. (PLoS ONE 2009) 3 4

Products for KLHL41 Gene

Sources for KLHL41 Gene

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