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UniProtKB - C9JR72 (KBTBD_HUMAN)
Protein
Kelch repeat and BTB domain-containing protein 13
Gene
KBTBD13
Organism
Homo sapiens (Human)
Status
Functioni
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.
1 Publication: protein ubiquitination Pathwayi
This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.
GO - Molecular functioni
- actin filament binding Source: Ensembl
GO - Biological processi
- actin filament organization Source: Ensembl
- protein ubiquitination Source: UniProtKB-UniPathway
- regulation of the force of skeletal muscle contraction Source: MGI
- relaxation of skeletal muscle Source: MGI
Keywordsi
Biological process | Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | C9JR72 |
Reactomei | R-HSA-8951664, Neddylation R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
SignaLinki | C9JR72 |
UniPathwayi | UPA00143 |
Names & Taxonomyi
Protein namesi | Recommended name: Kelch repeat and BTB domain-containing protein 13 |
Gene namesi | Name:KBTBD13 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:37227, KBTBD13 |
MIMi | 613727, gene |
neXtProti | NX_C9JR72 |
VEuPathDBi | HostDB:ENSG00000234438 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Cytosol
- cytosol Source: Reactome
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Nemaline myopathy 6 (NEM6)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064889 | 248 | R → S in NEM6. 1 PublicationCorresponds to variant dbSNP:rs200549195EnsemblClinVar. | 1 | |
Natural variantiVAR_064890 | 390 | K → N in NEM6. 1 PublicationCorresponds to variant dbSNP:rs1364598710EnsemblClinVar. | 1 | |
Natural variantiVAR_064891 | 408 | R → C in NEM6. 1 PublicationCorresponds to variant dbSNP:rs387907090EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Nemaline myopathyOrganism-specific databases
DisGeNETi | 390594 |
MalaCardsi | KBTBD13 |
MIMi | 609273, phenotype |
OpenTargetsi | ENSG00000234438 |
Orphaneti | 171439, Childhood-onset nemaline myopathy |
PharmGKBi | PA165479144 |
Miscellaneous databases
Pharosi | C9JR72, Tbio |
Genetic variation databases
BioMutai | KBTBD13 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000393906 | 1 – 458 | Kelch repeat and BTB domain-containing protein 13Add BLAST | 458 |
Post-translational modificationi
Autoubiquitinated.1 Publication
Keywords - PTMi
Ubl conjugationProteomic databases
PaxDbi | C9JR72 |
PeptideAtlasi | C9JR72 |
PRIDEi | C9JR72 |
PTM databases
iPTMneti | C9JR72 |
PhosphoSitePlusi | C9JR72 |
Expressioni
Tissue specificityi
Expressed in skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000234438, Expressed in skeletal muscle tissue and 32 other tissues |
Organism-specific databases
HPAi | ENSG00000234438, Tissue enriched (skeletal) |
Interactioni
Subunit structurei
Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1.
Interacts with CUL3.
1 PublicationGO - Molecular functioni
- actin filament binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 133620, 1 interactor |
STRINGi | 9606.ENSP00000388723 |
Miscellaneous databases
RNActi | C9JR72, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 74 | BTBPROSITE-ProRule annotationAdd BLAST | 68 | |
Repeati | 159 – 209 | Kelch 1Add BLAST | 51 | |
Repeati | 210 – 258 | Kelch 2Add BLAST | 49 | |
Repeati | 259 – 305 | Kelch 3Add BLAST | 47 | |
Repeati | 307 – 350 | Kelch 4Add BLAST | 44 | |
Repeati | 352 – 400 | Kelch 5Add BLAST | 49 |
Domaini
The BCB domain mediates the interaction with CUL3.
Keywords - Domaini
Kelch repeat, RepeatPhylogenomic databases
eggNOGi | KOG1072, Eukaryota |
GeneTreei | ENSGT00940000161629 |
HOGENOMi | CLU_049036_0_0_1 |
InParanoidi | C9JR72 |
OMAi | HTPTFEF |
OrthoDBi | 558840at2759 |
PhylomeDBi | C9JR72 |
TreeFami | TF328485 |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit 3.30.710.10, 1 hit |
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR011333, SKP1/BTB/POZ_sf |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF01344, Kelch_1, 2 hits |
SMARTi | View protein in SMART SM00612, Kelch, 2 hits |
SUPFAMi | SSF117281, SSF117281, 1 hit SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
i Sequence
Sequence statusi: Complete.
C9JR72-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MARGPQTLVQ VWVGGQLFQA DRALLVEHCG FFRGLFRSGM RETRAAEVRL
60 70 80 90 100
GVLSAGGFRA TLQVLRGDRP ALAAEDELLQ AVECAAFLQA PALARFLEHN
110 120 130 140 150
LTSDNCALLC DAAAAFGLRD VFHSAALFIC DGERELAAEL ALPEARAYVA
160 170 180 190 200
ALRPSSYAAV STHTPAPGFL EDASRTLCYL DEEEDAWRTL AALPLEASTL
210 220 230 240 250
LAGVATLGNK LYIVGGVRGA SKEVVELGFC YDPDGGTWHE FPSPHQPRYD
260 270 280 290 300
TALAGFDGRL YAIGGEFQRT PISSVERYDP AAGCWSFVAD LPQPAAGVPC
310 320 330 340 350
AQACGRLFVC LWRPADTTAV VEYAVRTDAW LPVAELRRPQ SYGHCMVAHR
360 370 380 390 400
DSLYVVRNGP SDDFLHCAID CLNLATGQWT ALPGQFVNSK GALFTAVVRG
410 420 430 440 450
DTVYTVNRMF TLLYAIEGGT WRLLREKAGF PRPGSLQTFL LRLPPGAPGP
VTSTTAEL
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064889 | 248 | R → S in NEM6. 1 PublicationCorresponds to variant dbSNP:rs200549195EnsemblClinVar. | 1 | |
Natural variantiVAR_064890 | 390 | K → N in NEM6. 1 PublicationCorresponds to variant dbSNP:rs1364598710EnsemblClinVar. | 1 | |
Natural variantiVAR_064891 | 408 | R → C in NEM6. 1 PublicationCorresponds to variant dbSNP:rs387907090EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC013553 Genomic DNA No translation available. CH471082 Genomic DNA Translation: EAW77711.1 |
CCDSi | CCDS45281.1 |
RefSeqi | NP_001094832.1, NM_001101362.2 |
Genome annotation databases
Ensembli | ENST00000432196; ENSP00000388723; ENSG00000234438 |
GeneIDi | 390594 |
KEGGi | hsa:390594 |
MANE-Selecti | ENST00000432196.5; ENSP00000388723.2; NM_001101362.3; NP_001094832.1 |
UCSCi | uc010uis.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC013553 Genomic DNA No translation available. CH471082 Genomic DNA Translation: EAW77711.1 |
CCDSi | CCDS45281.1 |
RefSeqi | NP_001094832.1, NM_001101362.2 |
3D structure databases
SMRi | C9JR72 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 133620, 1 interactor |
STRINGi | 9606.ENSP00000388723 |
PTM databases
iPTMneti | C9JR72 |
PhosphoSitePlusi | C9JR72 |
Genetic variation databases
BioMutai | KBTBD13 |
Proteomic databases
PaxDbi | C9JR72 |
PeptideAtlasi | C9JR72 |
PRIDEi | C9JR72 |
Protocols and materials databases
Antibodypediai | 56472, 58 antibodies from 14 providers |
DNASUi | 390594 |
Genome annotation databases
Ensembli | ENST00000432196; ENSP00000388723; ENSG00000234438 |
GeneIDi | 390594 |
KEGGi | hsa:390594 |
MANE-Selecti | ENST00000432196.5; ENSP00000388723.2; NM_001101362.3; NP_001094832.1 |
UCSCi | uc010uis.3, human |
Organism-specific databases
CTDi | 390594 |
DisGeNETi | 390594 |
GeneCardsi | KBTBD13 |
HGNCi | HGNC:37227, KBTBD13 |
HPAi | ENSG00000234438, Tissue enriched (skeletal) |
MalaCardsi | KBTBD13 |
MIMi | 609273, phenotype 613727, gene |
neXtProti | NX_C9JR72 |
OpenTargetsi | ENSG00000234438 |
Orphaneti | 171439, Childhood-onset nemaline myopathy |
PharmGKBi | PA165479144 |
VEuPathDBi | HostDB:ENSG00000234438 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1072, Eukaryota |
GeneTreei | ENSGT00940000161629 |
HOGENOMi | CLU_049036_0_0_1 |
InParanoidi | C9JR72 |
OMAi | HTPTFEF |
OrthoDBi | 558840at2759 |
PhylomeDBi | C9JR72 |
TreeFami | TF328485 |
Enzyme and pathway databases
UniPathwayi | UPA00143 |
PathwayCommonsi | C9JR72 |
Reactomei | R-HSA-8951664, Neddylation R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
SignaLinki | C9JR72 |
Miscellaneous databases
BioGRID-ORCSi | 390594, 4 hits in 1074 CRISPR screens |
GenomeRNAii | 390594 |
Pharosi | C9JR72, Tbio |
PROi | PR:C9JR72 |
RNActi | C9JR72, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000234438, Expressed in skeletal muscle tissue and 32 other tissues |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit 3.30.710.10, 1 hit |
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR011333, SKP1/BTB/POZ_sf |
Pfami | View protein in Pfam PF00651, BTB, 1 hit PF01344, Kelch_1, 2 hits |
SMARTi | View protein in SMART SM00612, Kelch, 2 hits |
SUPFAMi | SSF117281, SSF117281, 1 hit SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KBTBD_HUMAN | |
Accessioni | C9JR72Primary (citable) accession number: C9JR72 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 18, 2010 |
Last sequence update: | November 3, 2009 | |
Last modified: | February 23, 2022 | |
This is version 90 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways