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O60662

- KLH41_HUMAN

UniProt

O60662 - KLH41_HUMAN

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Protein

Kelch-like protein 41

Gene

KLHL41

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. myofibril assembly Source: UniProtKB
  2. protein ubiquitination Source: UniProtKB
  3. regulation of lateral pseudopodium assembly Source: Ensembl
  4. regulation of myoblast differentiation Source: UniProtKB
  5. regulation of myoblast proliferation Source: UniProtKB
  6. regulation of skeletal muscle cell differentiation Source: Ensembl
  7. skeletal muscle cell differentiation Source: UniProtKB
  8. striated muscle contraction Source: ProtInc
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:16905. KLHL41.

Subcellular locationi

Cytoplasm 1 Publication. Cytoplasmcytoskeleton By similarity. Cell projectionpseudopodium By similarity. Cell projectionruffle By similarity. CytoplasmmyofibrilsarcomereM line By similarity. Sarcoplasmic reticulum membrane 1 Publication. Endoplasmic reticulum membrane 1 Publication
Note: Predominantly cytoplasmic but can colocalize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia.1 Publication

GO - Cellular componenti

  1. Cul3-RING ubiquitin ligase complex Source: UniProtKB
  2. cytoplasm Source: UniProtKB
  3. cytoskeleton Source: UniProtKB
  4. M band Source: UniProtKB
  5. pseudopodium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti153 – 1531S → SL in NEM9. 1 Publication
VAR_071823
Natural varianti413 – 4131S → L in NEM9. 1 Publication
VAR_071824

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 606606Kelch-like protein 41PRO_0000119088Add
BLAST

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

Ubl conjugation

Proteomic databases

MaxQBiO60662.
PaxDbiO60662.
PRIDEiO60662.

PTM databases

PhosphoSiteiO60662.

Expressioni

Tissue specificityi

Sarcomeric muscle.

Gene expression databases

BgeeiO60662.
CleanExiHS_KBTBD10.
GenevestigatoriO60662.

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

Protein-protein interaction databases

BioGridi115607. 6 interactions.
IntActiO60662. 5 interactions.
STRINGi9606.ENSP00000284669.

Structurei

3D structure databases

ProteinModelPortaliO60662.
SMRiO60662. Positions 23-258, 289-606.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 10068BTBPROSITE-ProRule annotationAdd
BLAST
Domaini135 – 237103BACKAdd
BLAST
Repeati346 – 39853Kelch 1Add
BLAST
Repeati399 – 44749Kelch 2Add
BLAST
Repeati448 – 49548Kelch 3Add
BLAST
Repeati497 – 54246Kelch 4Add
BLAST
Repeati544 – 59956Kelch 5Add
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG290520.
GeneTreeiENSGT00770000120450.
HOGENOMiHOG000231966.
HOVERGENiHBG052215.
InParanoidiO60662.
KOiK10473.
OMAiCKEEDFM.
OrthoDBiEOG7WQ7RT.
PhylomeDBiO60662.
TreeFamiTF351653.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProiIPR011705. 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]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti304 – 3041D → G in AAC13686. (PubMed:9655184)Curated
Sequence conflicti358 – 3581E → K in AAC13686. (PubMed:9655184)Curated
Sequence conflicti361 – 3611D → V in AAC13686. (PubMed:9655184)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti153 – 1531S → SL in NEM9. 1 Publication
VAR_071823
Natural varianti271 – 2711A → T.
Corresponds to variant rs28763868 [ dbSNP | Ensembl ].
VAR_050046
Natural varianti413 – 4131S → L in NEM9. 1 Publication
VAR_071824
Natural varianti481 – 4811M → V.
Corresponds to variant rs34623017 [ dbSNP | Ensembl ].
VAR_050047

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111MDSQRELAEEL → M in isoform Short. 1 PublicationVSP_002819Add
BLAST

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 .
CCDSi CCDS2234.1. [O60662-1 ]
RefSeqi NP_006054.2. NM_006063.2. [O60662-1 ]
UniGenei Hs.50550.

3D structure databases

ProteinModelPortali O60662.
SMRi O60662. Positions 23-258, 289-606.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115607. 6 interactions.
IntActi O60662. 5 interactions.
STRINGi 9606.ENSP00000284669.

PTM databases

PhosphoSitei O60662.

Proteomic databases

MaxQBi O60662.
PaxDbi O60662.
PRIDEi O60662.

Protocols and materials databases

DNASUi 10324.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284669 ; ENSP00000284669 ; ENSG00000239474 . [O60662-1 ]
GeneIDi 10324.
KEGGi hsa:10324.
UCSCi uc002ueu.1. human. [O60662-1 ]

Organism-specific databases

CTDi 10324.
GeneCardsi GC02P170367.
HGNCi HGNC:16905. KLHL41.
HPAi HPA021165.
HPA021753.
HPA021760.
MIMi 607701. gene.
615731. phenotype.
neXtProti NX_O60662.
Orphaneti 171439. Childhood-onset nemaline myopathy.
171433. Intermediate nemaline myopathy.
171430. Severe congenital nemaline myopathy.
171436. Typical nemaline myopathy.
PharmGKBi PA134950205.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG290520.
GeneTreei ENSGT00770000120450.
HOGENOMi HOG000231966.
HOVERGENi HBG052215.
InParanoidi O60662.
KOi K10473.
OMAi CKEEDFM.
OrthoDBi EOG7WQ7RT.
PhylomeDBi O60662.
TreeFami TF351653.

Miscellaneous databases

GeneWikii KBTBD10.
GenomeRNAii 10324.
NextBioi 39135.
PROi O60662.
SOURCEi Search...

Gene expression databases

Bgeei O60662.
CleanExi HS_KBTBD10.
Genevestigatori O60662.

Family and domain databases

Gene3Di 2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR011705. 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 ]
Pfami PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 3 hits.
[Graphical view ]
PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
  8. Cited for: SUBCELLULAR LOCATION, VARIANTS NEM9 LEU-153 INS AND LEU-413.

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 26, 2014
This is version 127 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

External Data

Dasty 3