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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046235
UUCD1 version UUC-HoS-00666
Ensembl Protein ID ENSP00000287777.4
UniProt Accession Q2TBA0; Q86SI1; Q96MR2; KLH40_HUMAN
Genbank Protein ID AAO06908.1; AAO22141.1; BAB71222.1; AAI10492.1
Protein Name Kelch-like protein 40; Kelch repeat and BTB domain-containing protein 5; Sarcosynapsin
Genbank Nucleotide ID AY177390; AY176040; AK056577; BC110491
Gene Name KLHL40; KBTBD5; SRYP
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000157119.11 ENST00000287777.4 ENSP00000287777.4
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexHINTMentha
InWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
dbPAFPhosphositePlus
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 adaptor/Cullin RING/BCR/BTB_3-box BTB_3-box 23349464; 24361185
Classification
Family E-value Score Start End
E3 adaptor/Cullin RING/BCR/BTB_3-box: BTB 6.50e-14 53.7 34 97
E3 adaptor/Cullin RING/BCR/BTB_3-box: 3-box 6.20e-08 31.9 130 161
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/BCR/BTB_3-box: BTB
   S: 2    DvilvvggeeffahkivLaasSsvFyalflmeleesksklmveikdvqpevfrallkFlYtgklden 68
           D+++  g++ef++h++vLaa+S++F+a fl e e     ++ ++++v+p+v+ ++l++lYt+++ ++
   Q: 34   DCVVRAGEREFPCHRLVLAACSPYFRARFLAEPERA---GELHLEEVSPDVVAQVLHYLYTSEIALD 97
           99999************************9988864...69*********************99876 PP
   

   E3 adaptor/Cullin RING/BCR/BTB_3-box: 3-box
   S: 1    leNclgilrfAdlydcpdLkdaaldfilkhFk 32
           l+Ncl+++r++ l+dc +L+ aa+dfi+ hF+
   Q: 130  LSNCLAVFRLGLLLDCARLAVAARDFICAHFT 161
           69*****************************7 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity).
 Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity).
Protein Sequence
(Fasta)
MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV LAACSPYFRA 60
RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS VQDLFAAAHR FQIPSIFTIC 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046235|E3,BTB_3-box|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
CCTCGAAGAC AGCTGCTCAG TCTAAGCAAA CCCCAGCAGG AAAGCAGGGG TACAGAGAGG 60
AGCCCCCTTG GCACCGCCAC CGCACCCTAG GCCACCCACC ATGGCGCTGG GCTTGGAGCA 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046235|E3,BTB_3-box|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0217--Developmental protein
KW-0225--Disease mutation
KW-0880--Kelch repeat
KW-1057--Nemaline myopathy
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0833--Ubl conjugation pathway
Interpro

IPR011705--BACK
IPR017096--BTB-kelch_protein
IPR000210--BTB/POZ_dom
IPR015915--Kelch-typ_b-propeller
IPR006652--Kelch_1
IPR030607--KLHL40
IPR011333--SKP1/BTB/POZ
PROSITE

PS50097--BTB
Pfam

PF07707--BACK
PF00651--BTB
PF01344--Kelch_1
SMART

SM00875--BACK
SM00225--BTB
SM00612--Kelch
Gene Ontology

GO:0031672--C:A band
GO:0031463--C:Cul3-RING ubiquitin ligase complex
GO:0031674--C:I band
GO:0032435--P:negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0031397--P:negative regulation of protein ubiquitination
GO:0016567--P:protein ubiquitination
GO:0048741--P:skeletal muscle fiber development
KEGG hsa:131377
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001792 Ailuropoda melanoleuca 86.38 0.00e+00 1060.00
IUUC-Apl-003748 Anas platyrhynchos 70.79 0.00e+00 899.00
IUUC-Aca-005275 Anolis carolinensis 64.44 0.00e+00 813.00
IUUC-Acl-008133 Aspergillus clavatus 33.87 4.00e-04 40.00
IUUC-Ame-011294 Astyanax mexicanus 56.73 0.00e+00 709.00
IUUC-Bta-012801 Bos taurus 91.35 0.00e+00 1143.00
IUUC-Cja-019795 Callithrix jacchus 94.70 0.00e+00 1048.00
IUUC-Cfa-021245 Canis familiaris 89.91 0.00e+00 796.00
IUUC-Cpo-022436 Cavia porcellus 89.21 0.00e+00 1135.00
IUUC-Csa-023105 Chlorocebus sabaeus 98.55 0.00e+00 1183.00
IUUC-Dre-028603 Danio rerio 57.95 0.00e+00 746.00
IUUC-Dno-030015 Dasypus novemcinctus 72.45 0.00e+00 758.00
IUUC-Dse-031465 Dothistroma septosporum 28.41 2.00e-04 40.00
IUUC-Eca-034393 Equus caballus 93.61 0.00e+00 1063.00
IUUC-Fca-035823 Felis catus 80.62 0.00e+00 983.00
IUUC-Fal-037632 Ficedula albicollis 71.43 0.00e+00 875.00
IUUC-Gmo-039697 Gadus morhua 56.28 0.00e+00 728.00
IUUC-Gga-040525 Gallus gallus 71.11 0.00e+00 900.00
IUUC-Gac-042421 Gasterosteus aculeatus 59.29 0.00e+00 755.00
IUUC-Ggo-045596 Gorilla gorilla 99.52 0.00e+00 1186.00
IUUC-Itr-048612 Ictidomys tridecemlineatus 93.74 0.00e+00 1169.00
IUUC-Lch-050123 Latimeria chalumnae 65.53 0.00e+00 859.00
IUUC-Loc-051824 Lepisosteus oculatus 62.81 0.00e+00 811.00
IUUC-Laf-053485 Loxodonta africana 88.81 0.00e+00 728.00
IUUC-Mcc-054909 Macaca mulatta 98.55 0.00e+00 1181.00
IUUC-Meu-055972 Macropus eugenii 76.28 0.00e+00 964.00
IUUC-Mga-059451 Meleagris gallopavo 71.59 0.00e+00 903.00
IUUC-Mmr-060736 Microcebus murinus 95.01 0.00e+00 1174.00
IUUC-Mdo-062563 Monodelphis domestica 76.58 0.00e+00 749.00
IUUC-Mmu-063549 Mus musculus 92.13 0.00e+00 1133.00
IUUC-Mpu-066262 Mustela putorius furo 92.15 0.00e+00 1153.00
IUUC-Mlu-067210 Myotis lucifugus 91.17 0.00e+00 1139.00
IUUC-Nle-069300 Nomascus leucogenys 99.32 0.00e+00 826.00
IUUC-Opr-070384 Ochotona princeps 88.30 0.00e+00 1038.00
IUUC-Ont-071273 Oreochromis niloticus 59.13 0.00e+00 744.00
IUUC-Ocu-074499 Oryctolagus cuniculus 92.03 0.00e+00 1137.00
IUUC-Ola-087175 Oryzias latipes 58.40 0.00e+00 733.00
IUUC-Oga-088855 Otolemur garnettii 93.88 0.00e+00 1163.00
IUUC-Oar-089342 Ovis aries 78.53 0.00e+00 910.00
IUUC-Ptr-091028 Pan troglodytes 100.00 0.00e+00 829.00
IUUC-Pan-091827 Papio anubis 98.87 0.00e+00 1183.00
IUUC-Psi-092998 Pelodiscus sinensis 72.07 0.00e+00 910.00
IUUC-Pma-094586 Petromyzon marinus 57.65 8.00e-96 343.00
IUUC-Pfo-096216 Poecilia formosa 58.01 0.00e+00 753.00
IUUC-Pab-097656 Pongo abelii 99.48 0.00e+00 723.00
IUUC-Pva-102331 Pteropus vampyrus 82.69 0.00e+00 1013.00
IUUC-Rno-105613 Rattus norvegicus 90.55 0.00e+00 1000.00
IUUC-Sha-107091 Sarcophilus harrisii 77.64 0.00e+00 998.00
IUUC-Sar-112941 Sorex araneus 86.92 0.00e+00 784.00
IUUC-Ssc-116276 Sus scrofa 91.99 0.00e+00 1153.00
IUUC-Tgu-116494 Taeniopygia guttata 70.95 0.00e+00 905.00
IUUC-Tru-118614 Takifugu rubripes 59.29 0.00e+00 764.00
IUUC-Tsy-119499 Tarsius syrichta 93.95 0.00e+00 669.00
IUUC-Tni-119776 Tetraodon nigroviridis 59.13 0.00e+00 757.00
IUUC-Tbe-127806 Tupaia belangeri 85.21 0.00e+00 1033.00
IUUC-Ttr-128813 Tursiops truncatus 91.01 0.00e+00 1140.00
IUUC-Vpa-130127 Vicugna pacos 94.30 0.00e+00 697.00
IUUC-Xtr-132942 Xenopus tropicalis 66.93 0.00e+00 855.00
Created Date 25-Jun-2017

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