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Protein

Kelch-like protein 41

Gene

KLHL41

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

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-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

EuPathDBiHostDB:ENSG00000239474.6
HGNCiHGNC:16905 KLHL41
MIMi607701 gene
neXtProtiNX_O60662

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; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Pathology & Biotechi

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
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

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
ProteomicsDBi49504
49505 [O60662-2]

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

Show more details

Protein-protein interaction databases

BioGridi115607, 9 interactors
IntActiO60662, 8 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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00910000143979
HOGENOMiHOG000231966
HOVERGENiHBG052215
InParanoidiO60662
KOiK10473
OMAiHKQSEWR
OrthoDBiEOG091G0C3Y
PhylomeDBiO60662
TreeFamiTF351653

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

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 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
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

Similar proteinsi

Entry informationi

Entry nameiKLH41_HUMAN
AccessioniPrimary (citable) accession number: O60662
Secondary accession number(s): Q53R42
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 157 of the entry and version 2 of the sequence. See 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

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