KL41A_DANRE
ID KL41A_DANRE Reviewed; 599 AA.
AC E9QIN8;
DT 26-NOV-2014, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 72.
DE RecName: Full=Kelch-like protein 41a;
DE AltName: Full=Kelch repeat and BTB domain-containing protein 10b;
GN Name=klhl41a; Synonyms=kbtbd10a {ECO:0000312|ZFIN:ZDB-GENE-081105-22};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen {ECO:0000312|Ensembl:ENSDARP00000090560};
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=24268659; DOI=10.1016/j.ajhg.2013.10.020;
RA Gupta V.A., Ravenscroft G., Shaheen R., Todd E.J., Swanson L.C., Shiina M.,
RA Ogata K., Hsu C., Clarke N.F., Darras B.T., Farrar M.A., Hashem A.,
RA Manton N.D., Muntoni F., North K.N., Sandaradura S.A., Nishino I.,
RA Hayashi Y.K., Sewry C.A., Thompson E.M., Yau K.S., Brownstein C.A.,
RA Yu T.W., Allcock R.J., Davis M.R., Wallgren-Pettersson C., Matsumoto N.,
RA Alkuraya F.S., Laing N.G., Beggs A.H.;
RT "Identification of KLHL41 mutations implicates BTB-Kelch-mediated
RT ubiquitination as an alternate pathway to myofibrillar disruption in
RT nemaline myopathy.";
RL Am. J. Hum. Genet. 93:1108-1117(2013).
CC -!- FUNCTION: Involved in skeletal muscle development and differentiation.
CC {ECO:0000269|PubMed:24268659}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O60662}.
CC Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A2AUC9}. Sarcoplasmic
CC reticulum membrane {ECO:0000250|UniProtKB:O60662}. Endoplasmic
CC reticulum membrane {ECO:0000250|UniProtKB:O60662}.
CC -!- DEVELOPMENTAL STAGE: Ubiquitous expression during early development at
CC 1 dpf, but by 2 dpf, transcripts are virtually undetectable in the
CC major axial skeletal muscles. {ECO:0000269|PubMed:24268659}.
CC -!- DISRUPTION PHENOTYPE: Morphants exhibit leaner bodies, smaller eyes,
CC and pericardial edema. At 3 dpf morphants show reduced birefringence in
CC axial skeletal muscles suggesting disorganized skeletal muscle
CC structure. {ECO:0000269|PubMed:24268659}.
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DR EMBL; BX321905; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_001922967.1; XM_001922932.6.
DR AlphaFoldDB; E9QIN8; -.
DR SMR; E9QIN8; -.
DR STRING; 7955.ENSDARP00000090560; -.
DR PaxDb; E9QIN8; -.
DR PeptideAtlas; E9QIN8; -.
DR Ensembl; ENSDART00000099787; ENSDARP00000090560; ENSDARG00000068888.
DR GeneID; 100148315; -.
DR KEGG; dre:100148315; -.
DR CTD; 100148315; -.
DR ZFIN; ZDB-GENE-081105-22; klhl41a.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158859; -.
DR HOGENOM; CLU_004253_14_4_1; -.
DR InParanoid; E9QIN8; -.
DR OMA; TNKWSPF; -.
DR OrthoDB; 946131at2759; -.
DR PhylomeDB; E9QIN8; -.
DR TreeFam; TF351653; -.
DR PRO; PR:E9QIN8; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 9.
DR Bgee; ENSDARG00000068888; Expressed in muscle tissue and 19 other tissues.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0033017; C:sarcoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0045214; P:sarcomere organization; IMP:ZFIN.
DR GO; GO:0048741; P:skeletal muscle fiber development; IMP:ZFIN.
DR Gene3D; 2.120.10.80; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR017096; BTB-kelch_protein.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 2.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 4.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Cytoskeleton; Endoplasmic reticulum; Kelch repeat; Membrane;
KW Reference proteome; Repeat; Sarcoplasmic reticulum.
FT CHAIN 1..599
FT /note="Kelch-like protein 41a"
FT /id="PRO_0000431065"
FT DOMAIN 32..102
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 137..239
FT /note="BACK"
FT /evidence="ECO:0000255"
FT REPEAT 339..391
FT /note="Kelch 1"
FT /evidence="ECO:0000255"
FT REPEAT 393..440
FT /note="Kelch 2"
FT /evidence="ECO:0000255"
FT REPEAT 441..488
FT /note="Kelch 3"
FT /evidence="ECO:0000255"
FT REPEAT 489..535
FT /note="Kelch 4"
FT /evidence="ECO:0000255"
FT REPEAT 537..591
FT /note="Kelch 5"
FT /evidence="ECO:0000255"
SQ SEQUENCE 599 AA; 67942 MW; 0E6BD84977E4C381 CRC64;
MEPMSVKEDL RLFQSTLLQD GLKELLKENK FVDCILKVGD RSLPCHRLIM AACSPYFREL
YFTEDGTEKK DANKEVVLEN VDPNIMDMIV NYLYSADIDI TDDNVQDVFA VANKFQIPSV
FTVCVNYLQN KLSLGNCLAI FRMGLVLNCP RLAVSARDFI AEHFETLSKD EEFLEFNAPE
FFAIIGCDAL NVEKEELVFE LLMKWVRKNK ENRAKALGDA FEHIRFRLLP EKYLKEKVEK
DDIIKADPEL IKKLKVIKDA FAGKLPQIKE GEKEGEGENE LPGFLNDSQR LGMFNRDLIL
MINDTAAVAY DANENECFLA AMAEQIPRNH VSITSKKNLL YVAGGLFVDE ENKDSPLQCY
FYQMDPHSPN WIALPPMPSP RCLFAMGEFE NLLFAVAGKD LQSNESLDSV LCYDVDKMKW
LETKKLPLRI HGHSVISQNG LVYCIGGKTD ENKTINKMFA YNHKKSEWKE LAAMKTPRSM
FGATVHKGKI VVVGGVNEDG LLSSCEAYDF GTNKWEVFAE FAQERSSVNV LSVDGVLYAV
AGFTIKENED KQCVPSEITD IWQYEEDKKQ WSGMIGEMRY ASGASCVSMR LNVAKMPKL
