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O60662

- KLH41_HUMAN

UniProt

O60662 - KLH41_HUMAN

Protein

Kelch-like protein 41

Gene

KLHL41

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (01 Jun 2001)
      Previous versions | rss
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    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.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    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

    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 1 Publication. Cell projectionpseudopodium 1 Publication. Cell projectionruffle 1 Publication. 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.

    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: UniProtKB-SubCell
    6. ruffle Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    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 By similarity. 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. 4 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.
    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

    MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI    50
    LSACSPYFRE YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND 100
    GNVQDIFALA SRFQIPSVFT VCVSYLQKRL APGNCLAILR LGLLLDCPRL 150
    AISAREFVSD RFVQICKEED FMQLSPQELI SVISNDSLNV EKEEAVFEAV 200
    MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD IIKSNPDLQK 250
    KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM 300
    FVKDLILLVN DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV 350
    GGLYVDEENK DQPLQSYFFQ LDSIASEWVG LPPLPSARCL FGLGEVDDKI 400
    YVVAGKDLQT EASLDSVLCY DPVAAKWNEV KKLPIKVYGH NVISHKGMIY 450
    CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP MKIPRSMFGV AVHKGKIVIA 500
    GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL AGSLYAIGGF 550
    AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL 600
    FKLSKL 606
    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 varianti271 – 2711A → T.
    Corresponds to variant rs28763868 [ dbSNP | Ensembl ].
    VAR_050046
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 4 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.
    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.
    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

    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.

    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: October 1, 2014
    This is version 125 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