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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046620
UUCD1 version UUC-HoS-00030
Ensembl Protein ID ENSP00000284669.1
UniProt Accession O60662; Q53R42; KLH41_HUMAN
Genbank Protein ID AAC13686.1; AAG52886.1; AAY24117.1; AAH06534.1
Protein Name Kelch-like protein 41; Kel-like protein 23; Kelch repeat and BTB domain-containing protein 10; Kelch-related protein 1; Sarcosin
Genbank Nucleotide ID AF056929; AF333387; AC093899; BC006534
Gene Name KLHL41; KBTBD10; KRP1
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000239474.6 ENST00000284669.1 ENSP00000284669.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsiteCircNetmicroRNA
TRANSFACTargetScanRepTarmiRNAMap
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
BioGRIDmUbiSiDa
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 15983046
Classification
Family E-value Score Start End
E3 adaptor/Cullin RING/BCR/BTB_3-box: BTB 6.00e-17 63.4 34 100
E3 adaptor/Cullin RING/BCR/BTB_3-box: 3-box 2.10e-10 39.7 132 162
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    DvilvvggeeffahkivLaasSsvFyalflmeleesksklmveikdvqpevfrallkFlYtgkldene 69
           D++l+ g++  ++h+++L+a+S++F+  fl+e +e k k++v+++ v+p  +  ++k+lY+ ++d+n+
   Q: 34   DCTLKAGDKSLPCHRLILSACSPYFREYFLSEIDEAK-KKEVVLDNVDPAILDLIIKYLYSASIDLND 100
           9***********************************9.***************************986 PP
   

   E3 adaptor/Cullin RING/BCR/BTB_3-box: 3-box
   S: 1    leNclgilrfAdlydcpdLkdaaldfilkhF 31
           + Ncl+ilr++ l+dcp+L+ +a++f+++ F
   Q: 132  PGNCLAILRLGLLLDCPRLAISAREFVSDRF 162
           56***************************99 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     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.
 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.
Protein Sequence
(Fasta)
MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI LSACSPYFRE 60
YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND GNVQDIFALA SRFQIPSVFT 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046620|E3,BTB_3-box|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
CTTTTTACAG CTAGACCTGT GTGCTGCAAG GAGCTAAGGC CTTCAGTGTC CCCTTCCTTA 60
CCCAGGTTTC TCACAGAATG GATTCCCAGC GGGAACTTGC AGAGGAACTG CGGCTTTACC 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046620|E3,BTB_3-box|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0966--Cell projection
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0225--Disease mutation
KW-0256--Endoplasmic reticulum
KW-0880--Kelch repeat
KW-0472--Membrane
KW-1057--Nemaline myopathy
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0703--Sarcoplasmic reticulum
KW-0832--Ubl conjugation
Interpro

IPR011705--BACK
IPR017096--BTB-kelch_protein
IPR000210--BTB/POZ_dom
IPR015915--Kelch-typ_b-propeller
IPR006652--Kelch_1
IPR030571--KLHL41
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:0031463--C:Cul3-RING ubiquitin ligase complex
GO:0005737--C:cytoplasm
GO:0005856--C:cytoskeleton
GO:0005829--C:cytosol
GO:0005789--C:endoplasmic reticulum membrane
GO:0031430--C:M band
GO:0005634--C:nucleus
GO:0005886--C:plasma membrane
GO:0031143--C:pseudopodium
GO:0001726--C:ruffle
GO:0033017--C:sarcoplasmic reticulum membrane
GO:0030239--P:myofibril assembly
GO:0016567--P:protein ubiquitination
GO:0031275--P:regulation of lateral pseudopodium assembly
GO:0045661--P:regulation of myoblast differentiation
GO:2000291--P:regulation of myoblast proliferation
GO:2001014--P:regulation of skeletal muscle cell differentiation
GO:0045214--P:sarcomere organization
GO:0035914--P:skeletal muscle cell differentiation
GO:0048741--P:skeletal muscle fiber development
GO:0006941--P:striated muscle contraction
KEGG hsa:10324
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002167 Ailuropoda melanoleuca 97.03 0.00e+00 1181.00
IUUC-Apl-003866 Anas platyrhynchos 86.14 0.00e+00 1040.00
IUUC-Ame-011172 Astyanax mexicanus 61.86 0.00e+00 753.00
IUUC-Bta-012925 Bos taurus 97.52 0.00e+00 1187.00
IUUC-Bci-013875 Botrytis cinerea 29.58 1.00e-18 87.00
IUUC-Bdi-014115 Brachypodium distachyon 24.05 6.00e-11 62.00
IUUC-Cja-019348 Callithrix jacchus 98.35 0.00e+00 1194.00
IUUC-Cfa-020782 Canis familiaris 97.85 0.00e+00 1188.00
IUUC-Cpo-021825 Cavia porcellus 93.23 0.00e+00 1136.00
IUUC-Csa-023184 Chlorocebus sabaeus 99.04 0.00e+00 1026.00
IUUC-Cin-025237 Ciona intestinalis 29.45 1.00e-70 260.00
IUUC-Dre-028278 Danio rerio 60.43 0.00e+00 775.00
IUUC-Dno-029516 Dasypus novemcinctus 95.54 0.00e+00 1169.00
IUUC-Dor-030850 Dipodomys ordii 92.96 0.00e+00 759.00
IUUC-Ete-032697 Echinops telfairi 94.39 0.00e+00 1134.00
IUUC-Eca-033714 Equus caballus 97.36 0.00e+00 1188.00
IUUC-Eeu-035245 Erinaceus europaeus 94.90 0.00e+00 1070.00
IUUC-Gmo-039392 Gadus morhua 57.47 0.00e+00 731.00
IUUC-Ggr-040041 Gaeumannomyces graminis 27.78 6.00e-08 52.00
IUUC-Gga-041106 Gallus gallus 85.48 0.00e+00 1055.00
IUUC-Gac-042252 Gasterosteus aculeatus 60.53 0.00e+00 772.00
IUUC-Ggo-044817 Gorilla gorilla 99.83 0.00e+00 1205.00
IUUC-Lch-050477 Latimeria chalumnae 69.80 0.00e+00 859.00
IUUC-Loc-051955 Lepisosteus oculatus 70.46 0.00e+00 912.00
IUUC-Laf-053500 Loxodonta africana 96.53 0.00e+00 1174.00
IUUC-Mcc-055316 Macaca mulatta 99.34 0.00e+00 1199.00
IUUC-Mor-057181 Magnaporthe oryzae 26.35 2.00e-10 60.10
IUUC-Mmr-061444 Microcebus murinus 98.35 0.00e+00 1191.00
IUUC-Mmu-064147 Mus musculus 95.38 0.00e+00 1164.00
IUUC-Mlu-067481 Myotis lucifugus 94.72 0.00e+00 1162.00
IUUC-Ncr-068938 Neurospora crassa 30.10 1.00e-07 52.00
IUUC-Nle-069339 Nomascus leucogenys 99.83 0.00e+00 1205.00
IUUC-Opr-070703 Ochotona princeps 96.37 0.00e+00 1130.00
IUUC-Ont-072420 Oreochromis niloticus 60.70 0.00e+00 793.00
IUUC-Oan-073476 Ornithorhynchus anatinus 92.74 0.00e+00 1136.00
IUUC-Ocu-074248 Oryctolagus cuniculus 96.86 0.00e+00 1186.00
IUUC-Ola-086361 Oryzias latipes 61.50 0.00e+00 780.00
IUUC-Oar-090349 Ovis aries 97.36 0.00e+00 1187.00
IUUC-Pan-092069 Papio anubis 99.50 0.00e+00 1201.00
IUUC-Psi-093671 Pelodiscus sinensis 88.45 0.00e+00 1054.00
IUUC-Pfo-096122 Poecilia formosa 61.79 0.00e+00 809.00
IUUC-Pab-098711 Pongo abelii 99.83 0.00e+00 1206.00
IUUC-Pca-100495 Procavia capensis 88.45 0.00e+00 1055.00
IUUC-Pva-102401 Pteropus vampyrus 97.03 0.00e+00 1184.00
IUUC-Rno-105969 Rattus norvegicus 95.21 0.00e+00 1161.00
IUUC-Sar-113405 Sorex araneus 93.07 0.00e+00 1125.00
IUUC-Tgu-116725 Taeniopygia guttata 85.81 0.00e+00 1075.00
IUUC-Tru-117743 Takifugu rubripes 59.04 0.00e+00 763.00
IUUC-Tsy-119225 Tarsius syrichta 90.43 0.00e+00 1081.00
IUUC-Tni-120547 Tetraodon nigroviridis 61.96 0.00e+00 791.00
IUUC-Ttr-128645 Tursiops truncatus 97.03 0.00e+00 1181.00
IUUC-Vpa-130714 Vicugna pacos 97.36 0.00e+00 1186.00
IUUC-Xtr-132144 Xenopus tropicalis 76.40 0.00e+00 945.00
IUUC-Xma-133860 Xiphophorus maculatus 61.96 0.00e+00 810.00
Created Date 25-Jun-2017

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