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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-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31558-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Names & Taxonomyi

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
Gene namesi
Name:KLHL41
Synonyms:KBTBD10, KRP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:16905. KLHL41.

Subcellular locationi

GO - Cellular componenti

  • Cul3-RING ubiquitin ligase complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB
  • M band Source: UniProtKB
  • nucleus Source: HPA
  • plasma membrane Source: HPA
  • pseudopodium Source: UniProtKB-SubCell
  • ruffle Source: UniProtKB-SubCell
  • sarcoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 9 (NEM9)
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
Natural variantiVAR_071823153S → SL in NEM9. 1 Publication1
Natural variantiVAR_071824413S → L in NEM9. 1 PublicationCorresponds to variant rs730882260dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNETi10324.
MalaCardsiKLHL41.
MIMi615731. phenotype.
OpenTargetsiENSG00000239474.
Orphaneti171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBiPA134950205.

Polymorphism and mutation databases

BioMutaiKLHL41.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001190881 – 606Kelch-like protein 41Add BLAST606

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphoserineBy similarity1

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

MaxQBiO60662.
PaxDbiO60662.
PeptideAtlasiO60662.
PRIDEiO60662.

PTM databases

iPTMnetiO60662.
PhosphoSitePlusiO60662.

Expressioni

Tissue specificityi

Sarcomeric muscle.

Gene expression databases

BgeeiENSG00000239474.
CleanExiHS_KBTBD10.
GenevisibleiO60662. HS.

Organism-specific databases

HPAiHPA021165.
HPA021753.
HPA021760.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
NEBP209298EBI-5353084,EBI-1049657
NEBP20929-45EBI-5353084,EBI-9531519
RCHY1Q96PM53EBI-5353084,EBI-947779

Protein-protein interaction databases

BioGridi115607. 8 interactors.
IntActiO60662. 7 interactors.
STRINGi9606.ENSP00000284669.

Structurei

3D structure databases

ProteinModelPortaliO60662.
SMRiO60662.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 100BTBPROSITE-ProRule annotationAdd BLAST68
Domaini135 – 237BACKAdd BLAST103
Repeati346 – 398Kelch 1Add BLAST53
Repeati399 – 447Kelch 2Add BLAST49
Repeati448 – 495Kelch 3Add BLAST48
Repeati497 – 542Kelch 4Add BLAST46
Repeati544 – 599Kelch 5Add BLAST56

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 5 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000231966.
HOVERGENiHBG052215.
InParanoidiO60662.
KOiK10473.
OMAiFFQLDNV.
OrthoDBiEOG091G0C3Y.
PhylomeDBiO60662.
TreeFamiTF351653.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 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
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
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 rs28763868dbSNPEnsembl.1
Natural variantiVAR_071824413S → L in NEM9. 1 PublicationCorresponds to variant rs730882260dbSNPEnsembl.1
Natural variantiVAR_050047481M → V.Corresponds to variant rs34623017dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0028191 – 11MDSQRELAEEL → M in isoform Short. 1 PublicationAdd BLAST11

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 8 interactors.
IntActiO60662. 7 interactors.
STRINGi9606.ENSP00000284669.

PTM databases

iPTMnetiO60662.
PhosphoSitePlusiO60662.

Polymorphism and mutation databases

BioMutaiKLHL41.

Proteomic databases

MaxQBiO60662.
PaxDbiO60662.
PeptideAtlasiO60662.
PRIDEiO60662.

Protocols and materials databases

DNASUi10324.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10324.
DisGeNETi10324.
GeneCardsiKLHL41.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000231966.
HOVERGENiHBG052215.
InParanoidiO60662.
KOiK10473.
OMAiFFQLDNV.
OrthoDBiEOG091G0C3Y.
PhylomeDBiO60662.
TreeFamiTF351653.

Enzyme and pathway databases

BioCyciZFISH:G66-31558-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

GeneWikiiKBTBD10.
GenomeRNAii10324.
PROiO60662.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000239474.
CleanExiHS_KBTBD10.
GenevisibleiO60662. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKLH41_HUMAN
AccessioniPrimary (citable) accession number: O60662
Secondary accession number(s): Q53R42
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 146 of the entry and version 2 of the sequence. [Complete history]
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.

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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.