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Entry version 162 (13 Feb 2019)
Sequence version 2 (01 Jun 2001)
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Protein

Kelch-like protein 41

Gene

KLHL41

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kelch-like protein 41
Alternative name(s):
Kel-like protein 23
Kelch repeat and BTB domain-containing protein 10
Kelch-related protein 1
Sarcosin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KLHL41
Synonyms:KBTBD10, KRP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000239474.6

Human Gene Nomenclature Database

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HGNCi
HGNC:16905 KLHL41

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607701 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60662

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nemaline myopathy 9 (NEM9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615731
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071823153S → SL in NEM9. 1 Publication1
Natural variantiVAR_071824413S → L in NEM9. 1 PublicationCorresponds to variant dbSNP:rs730882260EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
10324

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KLHL41

MalaCards human disease database

More...
MalaCardsi
KLHL41
MIMi615731 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000239474

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
171439 Childhood-onset nemaline myopathy
171433 Intermediate nemaline myopathy
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134950205

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KLHL41

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001190881 – 606Kelch-like protein 41Add BLAST606

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei3PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O60662

MaxQB - The MaxQuant DataBase

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MaxQBi
O60662

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60662

PeptideAtlas

More...
PeptideAtlasi
O60662

PRoteomics IDEntifications database

More...
PRIDEi
O60662

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49504
49505 [O60662-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60662

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60662

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Sarcomeric muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000239474 Expressed in 121 organ(s), highest expression level in gastrocnemius

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60662 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021165
HPA021753
HPA021760

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NRAP. Interacts with LASP1. Part of a complex that contains CUL3, RBX1 and KLHL41.By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115607, 9 interactors

Protein interaction database and analysis system

More...
IntActi
O60662, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000284669

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60662

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O60662

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini33 – 100BTBPROSITE-ProRule annotationAdd BLAST68
Domaini135 – 237BACKAdd BLAST103
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati346 – 398Kelch 1Add BLAST53
Repeati399 – 447Kelch 2Add BLAST49
Repeati448 – 495Kelch 3Add BLAST48
Repeati497 – 542Kelch 4Add BLAST46
Repeati544 – 599Kelch 5Add BLAST56

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4441 Eukaryota
ENOG410XNX8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158859

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231966

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052215

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60662

KEGG Orthology (KO)

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KOi
K10473

Identification of Orthologs from Complete Genome Data

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OMAi
FFQLDNV

Database of Orthologous Groups

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OrthoDBi
946131at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60662

TreeFam database of animal gene trees

More...
TreeFami
TF351653

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.120.10.80, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030571 KLHL41
IPR011333 SKP1/BTB/POZ_sf

The PANTHER Classification System

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PANTHERi
PTHR24412:SF146 PTHR24412:SF146, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 4 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037037 Kelch-like_protein_gigaxonin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 4 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50097 BTB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform Long (identifier: O60662-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI
60 70 80 90 100
LSACSPYFRE YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND
110 120 130 140 150
GNVQDIFALA SRFQIPSVFT VCVSYLQKRL APGNCLAILR LGLLLDCPRL
160 170 180 190 200
AISAREFVSD RFVQICKEED FMQLSPQELI SVISNDSLNV EKEEAVFEAV
210 220 230 240 250
MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD IIKSNPDLQK
260 270 280 290 300
KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM
310 320 330 340 350
FVKDLILLVN DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV
360 370 380 390 400
GGLYVDEENK DQPLQSYFFQ LDSIASEWVG LPPLPSARCL FGLGEVDDKI
410 420 430 440 450
YVVAGKDLQT EASLDSVLCY DPVAAKWNEV KKLPIKVYGH NVISHKGMIY
460 470 480 490 500
CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP MKIPRSMFGV AVHKGKIVIA
510 520 530 540 550
GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL AGSLYAIGGF
560 570 580 590 600
AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL

FKLSKL
Length:606
Mass (Da):68,037
Last modified:June 1, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8C7BC13EB6E01034
GO
Isoform Short (identifier: O60662-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MDSQRELAEEL → M

Show »
Length:596
Mass (Da):66,866
Checksum:iB28A64E7E5EB9B59
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti304D → G in AAC13686 (PubMed:9655184).Curated1
Sequence conflicti358E → K in AAC13686 (PubMed:9655184).Curated1
Sequence conflicti361D → V in AAC13686 (PubMed:9655184).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071823153S → SL in NEM9. 1 Publication1
Natural variantiVAR_050046271A → T. Corresponds to variant dbSNP:rs28763868EnsemblClinVar.1
Natural variantiVAR_071824413S → L in NEM9. 1 PublicationCorresponds to variant dbSNP:rs730882260EnsemblClinVar.1
Natural variantiVAR_050047481M → V. Corresponds to variant dbSNP:rs34623017EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0028191 – 11MDSQRELAEEL → M in isoform Short. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF056929 mRNA Translation: AAC13686.1
AF333387 mRNA Translation: AAG52886.1
AC093899 Genomic DNA Translation: AAY24117.1
BC006534 mRNA Translation: AAH06534.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2234.1 [O60662-1]

NCBI Reference Sequences

More...
RefSeqi
NP_006054.2, NM_006063.2 [O60662-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.50550

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000284669; ENSP00000284669; ENSG00000239474 [O60662-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10324

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10324

UCSC genome browser

More...
UCSCi
uc002ueu.1 human [O60662-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF056929 mRNA Translation: AAC13686.1
AF333387 mRNA Translation: AAG52886.1
AC093899 Genomic DNA Translation: AAY24117.1
BC006534 mRNA Translation: AAH06534.1
CCDSiCCDS2234.1 [O60662-1]
RefSeqiNP_006054.2, NM_006063.2 [O60662-1]
UniGeneiHs.50550

3D structure databases

ProteinModelPortaliO60662
SMRiO60662
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115607, 9 interactors
IntActiO60662, 9 interactors
STRINGi9606.ENSP00000284669

PTM databases

iPTMnetiO60662
PhosphoSitePlusiO60662

Polymorphism and mutation databases

BioMutaiKLHL41

Proteomic databases

jPOSTiO60662
MaxQBiO60662
PaxDbiO60662
PeptideAtlasiO60662
PRIDEiO60662
ProteomicsDBi49504
49505 [O60662-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10324
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284669; ENSP00000284669; ENSG00000239474 [O60662-1]
GeneIDi10324
KEGGihsa:10324
UCSCiuc002ueu.1 human [O60662-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10324
DisGeNETi10324
EuPathDBiHostDB:ENSG00000239474.6

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KLHL41
GeneReviewsiKLHL41
HGNCiHGNC:16905 KLHL41
HPAiHPA021165
HPA021753
HPA021760
MalaCardsiKLHL41
MIMi607701 gene
615731 phenotype
neXtProtiNX_O60662
OpenTargetsiENSG00000239474
Orphaneti171439 Childhood-onset nemaline myopathy
171433 Intermediate nemaline myopathy
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy
PharmGKBiPA134950205

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00940000158859
HOGENOMiHOG000231966
HOVERGENiHBG052215
InParanoidiO60662
KOiK10473
OMAiFFQLDNV
OrthoDBi946131at2759
PhylomeDBiO60662
TreeFamiTF351653

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KBTBD10

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10324

Protein Ontology

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PROi
PR:O60662

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000239474 Expressed in 121 organ(s), highest expression level in gastrocnemius
GenevisibleiO60662 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030571 KLHL41
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF146 PTHR24412:SF146, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 4 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 4 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKLH41_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60662
Secondary accession number(s): Q53R42
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: February 13, 2019
This is version 162 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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