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O60662 (KLH41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KLHL41
Synonyms:KBTBD10, KRP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length606 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 By similarity.

Subunit structure

Interacts with NRAP. Interacts with LASP1 By similarity. Part of a complex that contains CUL3, RBX1 and KLHL41. Ref.6

Subcellular location

Cytoplasm. Cytoplasmcytoskeleton. Cell projectionpseudopodium. Cell projectionruffle. CytoplasmmyofibrilsarcomereM line By similarity. Note: Predominantly cytoplasmic but can colocalize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia. Ref.7

Tissue specificity

Sarcomeric muscle.

Post-translational modification

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. Ref.6

Sequence similarities

Contains 1 BACK (BTB/Kelch associated) domain.

Contains 1 BTB (POZ) domain.

Contains 5 Kelch repeats.

Ontologies

Keywords
   Cellular componentCell projection
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainKelch repeat
Repeat
   PTMUbl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmyofibril assembly

Inferred from sequence or structural similarity. Source: UniProtKB

protein ubiquitination

Inferred from direct assay Ref.6. Source: UniProtKB

regulation of lateral pseudopodium assembly

Inferred from electronic annotation. Source: Ensembl

regulation of myoblast differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of myoblast proliferation

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

skeletal muscle cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

striated muscle contraction

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentCul3-RING ubiquitin ligase complex

Inferred from direct assay Ref.6. Source: UniProtKB

M band

Inferred from sequence or structural similarity. Source: UniProtKB

centrosome

Inferred from direct assay. Source: HPA

nucleolus

Inferred from direct assay. Source: HPA

plasma membrane

Inferred from direct assay. Source: HPA

pseudopodium

Inferred from electronic annotation. Source: UniProtKB-SubCell

ruffle

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NEBP2092913EBI-5353084,EBI-1049657

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: O60662-1)

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.
Isoform Short (identifier: O60662-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 606606Kelch-like protein 41
PRO_0000119088

Regions

Domain33 – 10068BTB
Domain135 – 237103BACK
Repeat346 – 39853Kelch 1
Repeat399 – 44749Kelch 2
Repeat448 – 49548Kelch 3
Repeat497 – 54246Kelch 4
Repeat544 – 59956Kelch 5

Natural variations

Alternative sequence1 – 1111MDSQRELAEEL → M in isoform Short.
VSP_002819
Natural variant2711A → T.
Corresponds to variant rs28763868 [ dbSNP | Ensembl ].
VAR_050046
Natural variant4811M → V.
Corresponds to variant rs34623017 [ dbSNP | Ensembl ].
VAR_050047

Experimental info

Sequence conflict3041D → G in AAC13686. Ref.1
Sequence conflict3581E → K in AAC13686. Ref.1
Sequence conflict3611D → V in AAC13686. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified June 1, 2001. Version 2.
Checksum: 8C7BC13EB6E01034

FASTA60668,037
        10         20         30         40         50         60 
MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI LSACSPYFRE 

        70         80         90        100        110        120 
YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND GNVQDIFALA SRFQIPSVFT 

       130        140        150        160        170        180 
VCVSYLQKRL APGNCLAILR LGLLLDCPRL AISAREFVSD RFVQICKEED FMQLSPQELI 

       190        200        210        220        230        240 
SVISNDSLNV EKEEAVFEAV MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD 

       250        260        270        280        290        300 
IIKSNPDLQK KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM 

       310        320        330        340        350        360 
FVKDLILLVN DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV GGLYVDEENK 

       370        380        390        400        410        420 
DQPLQSYFFQ LDSIASEWVG LPPLPSARCL FGLGEVDDKI YVVAGKDLQT EASLDSVLCY 

       430        440        450        460        470        480 
DPVAAKWNEV KKLPIKVYGH NVISHKGMIY CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP 

       490        500        510        520        530        540 
MKIPRSMFGV AVHKGKIVIA GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL 

       550        560        570        580        590        600 
AGSLYAIGGF AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL 


FKLSKL 

« Hide

Isoform Short [UniParc].

Checksum: B28A64E7E5EB9B59
Show »

FASTA59666,866

References

« Hide 'large scale' references
[1]"DNA sequence and muscle-specific expression of human sarcosin transcripts."
Taylor A., Obholz K., Linden G., Sadiev S., Klaus S., Carlson K.D.
Mol. Cell. Biochem. 183:105-112(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
[2]"Krp1, a novel kelch related protein that is involved in pseudopod elongation in transformed cells."
Spence H.J., Johnston I.P., Ewart K., Buchanan S.J., Fitzgerald U., Ozanne B.W.
Oncogene 19:1266-1276(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
Tissue: Skeletal muscle.
[3]"Mammalian Kel or Kel-like proteins related to ovarian development and differentiation."
Zhuang D., Gunnarsson D., Toffia O., Lind M., Lundgren P., Selstam G.
Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
Tissue: Muscle.
[6]"Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway."
Zhang D.D., Lo S.C., Sun Z., Habib G.M., Lieberman M.W., Hannink M.
J. Biol. Chem. 280:30091-30099(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH CUL3 AND RBX1, UBIQUITINATION.
[7]"Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level."
Wang X.J., Zhang D.D.
PLoS ONE 4:E5492-E5492(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF056929 mRNA. Translation: AAC13686.1.
AF333387 mRNA. Translation: AAG52886.1.
AC093899 Genomic DNA. Translation: AAY24117.1.
BC006534 mRNA. Translation: AAH06534.1.
RefSeqNP_006054.2. NM_006063.2.
UniGeneHs.50550.

3D structure databases

ProteinModelPortalO60662.
SMRO60662. Positions 23-258, 289-606.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115607. 4 interactions.
IntActO60662. 5 interactions.
STRING9606.ENSP00000284669.

PTM databases

PhosphoSiteO60662.

Proteomic databases

PaxDbO60662.
PRIDEO60662.

Protocols and materials databases

DNASU10324.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284669; ENSP00000284669; ENSG00000239474. [O60662-1]
GeneID10324.
KEGGhsa:10324.
UCSCuc002ueu.1. human. [O60662-1]

Organism-specific databases

CTD10324.
GeneCardsGC02P170367.
HGNCHGNC:16905. KLHL41.
HPAHPA021165.
HPA021753.
HPA021760.
MIM607701. gene.
neXtProtNX_O60662.
Orphanet171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBPA134950205.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG290520.
HOGENOMHOG000231966.
HOVERGENHBG052215.
InParanoidO60662.
KOK10473.
OMACKEEDFM.
OrthoDBEOG7WQ7RT.
PhylomeDBO60662.
TreeFamTF351653.

Gene expression databases

BgeeO60662.
CleanExHS_KBTBD10.
GenevestigatorO60662.

Family and domain databases

Gene3D2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR017096. Kelch-like_gigaxonin-typ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view]
PIRSFPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKBTBD10.
GenomeRNAi10324.
NextBio39135.
PROO60662.
SOURCESearch...

Entry information

Entry nameKLH41_HUMAN
AccessionPrimary (citable) accession number: O60662
Secondary accession number(s): Q53R42
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: March 19, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM