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Protein

Kelch-like protein 40

Gene

Klhl40

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Required for skeletal muscle development.By similarity

GO - Biological processi

  • negative regulation of proteasomal ubiquitin-dependent protein catabolic process Source: MGI
  • negative regulation of protein ubiquitination Source: MGI
  • protein ubiquitination Source: GOC
  • skeletal muscle fiber development Source: MGI
  • skeletal muscle fiber differentiation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 40
Alternative name(s):
Kelch repeat and BTB domain-containing protein 5
Gene namesi
Name:Klhl40
Synonyms:Kbtbd5
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1919580. Klhl40.

Subcellular locationi

GO - Cellular componenti

  • A band Source: MGI
  • Cul3-RING ubiquitin ligase complex Source: GO_Central
  • I band Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 621621Kelch-like protein 40PRO_0000274236Add
BLAST

Proteomic databases

MaxQBiQ9D783.
PaxDbiQ9D783.
PRIDEiQ9D783.

PTM databases

iPTMnetiQ9D783.
PhosphoSiteiQ9D783.

Expressioni

Tissue specificityi

Expressed in various types of muscles, including extensor digitorum longus, gastrocnemius, soleus, diaphragm, masseter and heart (at protein level). Not detected in brain, liver and lung (at protein level).1 Publication

Developmental stagei

Induced during the differentiation of myoblasts into myotubes in vitro.1 Publication

Gene expression databases

BgeeiQ9D783.
CleanExiMM_KBTBD5.

Interactioni

Protein-protein interaction databases

BioGridi215313. 12 interactions.
STRINGi10090.ENSMUSP00000095873.

Structurei

3D structure databases

ProteinModelPortaliQ9D783.
SMRiQ9D783. Positions 29-262, 314-621.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 9866BTBPROSITE-ProRule annotationAdd
BLAST
Domaini133 – 239107BACKAdd
BLAST
Repeati360 – 41253Kelch 1Add
BLAST
Repeati413 – 46250Kelch 2Add
BLAST
Repeati463 – 51048Kelch 3Add
BLAST
Repeati512 – 55746Kelch 4Add
BLAST
Repeati559 – 61355Kelch 5Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi270 – 2756Poly-Lys

Sequence similaritiesi

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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
HOGENOMiHOG000231966.
HOVERGENiHBG052215.
InParanoidiQ9D783.
KOiK10473.
OrthoDBiEOG7M6D6S.
PhylomeDBiQ9D783.
TreeFamiTF351653.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR030607. KLHL40.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF22. PTHR24412:SF22. 1 hit.
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. AlignAdd to basket

Isoform 1 (identifier: Q9D783-1) [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
MTLGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRVG EREFPCHRLV
60 70 80 90 100
LAACSPYFRA RFLAEPDSAG EVRLEEVSPD VVSQVLHYLY TSEIALDEAS
110 120 130 140 150
VQDLFAAAHR FQIPSIFTIC VSFLQKRLCL ANCLAVFRLG LLLDCARLAV
160 170 180 190 200
AARDFICARF PLVARDNDFL GLSADELIAI ISSDGLNVEK EEAVFEAVMR
210 220 230 240 250
WASSGDAEAQ AERQRALPTV FESVRCRLLP RAFLETRVER HPLVRSQPEL
260 270 280 290 300
LRKVQMVKDA HEGRLTTLRK KKKEKGEQTA RAKEANQGTE DTKAEDDEER
310 320 330 340 350
VLPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSTQIPKN
360 370 380 390 400
HVSLVTKENQ VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS
410 420 430 440 450
PRCLFGLGEA LNAIYVVGGR ELKDSEDSLD SVLCYDRLSF KWGESDPLPY
460 470 480 490 500
AVYGHTVLSH MDLVYVIGGK GKDRKCLNKM CVYDPKKFEW KELAPMQTAR
510 520 530 540 550
SLFGATVHDG RIFVAAGVTD TGLTSSSEVY SIADNKWTSF EAFPQERSSL
560 570 580 590 600
SLVSLAGTLY ALGGFATLET ESGELVPTEL NDIWRYNEDE KKWEGVLREI
610 620
AYAAGATFLP VRLNVVRLTK M
Length:621
Mass (Da):69,589
Last modified:June 1, 2001 - v1
Checksum:iD8D4BEA104526E5F
GO
Isoform 2 (identifier: Q9D783-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-445: FDHLDSEWLGMPPLPSPRCLFGLGEALNAIYVVGGRELKDSEDSLDSVLCYDRLSFKWGES → VPGQS
     446-621: Missing.

Note: No experimental confirmation available.
Show »
Length:389
Mass (Da):43,713
Checksum:i4F5EFFD1A675D51F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti616 – 6161V → L in BAE36021 (PubMed:16141072).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei385 – 44561FDHLD…KWGES → VPGQS in isoform 2. 1 PublicationVSP_022683Add
BLAST
Alternative sequencei446 – 621176Missing in isoform 2. 1 PublicationVSP_022684Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK009491 mRNA. Translation: BAB26321.1.
AK160799 mRNA. Translation: BAE36021.1.
BC125576 mRNA. Translation: AAI25577.1.
BC137889 mRNA. Translation: AAI37890.1.
CCDSiCCDS23637.1. [Q9D783-1]
RefSeqiNP_082478.1. NM_028202.3.
UniGeneiMm.45734.

Genome annotation databases

GeneIDi72330.
KEGGimmu:72330.
UCSCiuc009sdv.2. mouse. [Q9D783-1]
uc029xgr.1. mouse. [Q9D783-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK009491 mRNA. Translation: BAB26321.1.
AK160799 mRNA. Translation: BAE36021.1.
BC125576 mRNA. Translation: AAI25577.1.
BC137889 mRNA. Translation: AAI37890.1.
CCDSiCCDS23637.1. [Q9D783-1]
RefSeqiNP_082478.1. NM_028202.3.
UniGeneiMm.45734.

3D structure databases

ProteinModelPortaliQ9D783.
SMRiQ9D783. Positions 29-262, 314-621.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi215313. 12 interactions.
STRINGi10090.ENSMUSP00000095873.

PTM databases

iPTMnetiQ9D783.
PhosphoSiteiQ9D783.

Proteomic databases

MaxQBiQ9D783.
PaxDbiQ9D783.
PRIDEiQ9D783.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi72330.
KEGGimmu:72330.
UCSCiuc009sdv.2. mouse. [Q9D783-1]
uc029xgr.1. mouse. [Q9D783-2]

Organism-specific databases

CTDi131377.
MGIiMGI:1919580. Klhl40.

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
HOGENOMiHOG000231966.
HOVERGENiHBG052215.
InParanoidiQ9D783.
KOiK10473.
OrthoDBiEOG7M6D6S.
PhylomeDBiQ9D783.
TreeFamiTF351653.

Miscellaneous databases

PROiQ9D783.
SOURCEiSearch...

Gene expression databases

BgeeiQ9D783.
CleanExiMM_KBTBD5.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR030607. KLHL40.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF22. PTHR24412:SF22. 1 hit.
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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Strain: C57BL/6J.
    Tissue: Head and Tongue.
  2. "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 2).
    Tissue: Brain.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Heart.
  4. "Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy."
    Ravenscroft G., Miyatake S., Lehtokari V.L., Todd E.J., Vornanen P., Yau K.S., Hayashi Y.K., Miyake N., Tsurusaki Y., Doi H., Saitsu H., Osaka H., Yamashita S., Ohya T., Sakamoto Y., Koshimizu E., Imamura S., Yamashita M.
    , Ogata K., Shiina M., Bryson-Richardson R.J., Vaz R., Ceyhan O., Brownstein C.A., Swanson L.C., Monnot S., Romero N.B., Amthor H., Kresoje N., Sivadorai P., Kiraly-Borri C., Haliloglu G., Talim B., Orhan D., Kale G., Charles A.K., Fabian V.A., Davis M.R., Lammens M., Sewry C.A., Manzur A., Muntoni F., Clarke N.F., North K.N., Bertini E., Nevo Y., Willichowski E., Silberg I.E., Topaloglu H., Beggs A.H., Allcock R.J., Nishino I., Wallgren-Pettersson C., Matsumoto N., Laing N.G.
    Am. J. Hum. Genet. 93:6-18(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiKLH40_MOUSE
AccessioniPrimary (citable) accession number: Q9D783
Secondary accession number(s): B9EHG6, Q059P8, Q3TUF0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: June 1, 2001
Last modified: July 6, 2016
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.