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Protein

Kelch repeat and BTB domain-containing protein 13

Gene

KBTBD13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.1 Publication

Pathwayi: protein ubiquitination

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 - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 13
Gene namesi
Name:KBTBD13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000234438.3
HGNCiHGNC:37227 KBTBD13
MIMi613727 gene
neXtProtiNX_C9JR72

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 6 (NEM6)1 Publication
The disease is caused by mutations 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.
See also OMIM:609273
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064889248R → S in NEM6. 1 PublicationCorresponds to variant dbSNP:rs200549195EnsemblClinVar.1
Natural variantiVAR_064890390K → N in NEM6. 1 Publication1
Natural variantiVAR_064891408R → C in NEM6. 1 PublicationCorresponds to variant dbSNP:rs387907090EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNETi390594
GeneReviewsiKBTBD13
MalaCardsiKBTBD13
MIMi609273 phenotype
OpenTargetsiENSG00000234438
Orphaneti171439 Childhood-onset nemaline myopathy
PharmGKBiPA165479144

Polymorphism and mutation databases

BioMutaiKBTBD13

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003939061 – 458Kelch repeat and BTB domain-containing protein 13Add BLAST458

Post-translational modificationi

Autoubiquitinated.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiC9JR72
PRIDEiC9JR72
ProteomicsDBi11337

PTM databases

iPTMnetiC9JR72
PhosphoSitePlusiC9JR72

Expressioni

Tissue specificityi

Expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000234438 Expressed in 29 organ(s), highest expression level in muscle of leg

Organism-specific databases

HPAiHPA062737

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 Publication

Protein-protein interaction databases

BioGridi133620, 1 interactor
STRINGi9606.ENSP00000388723

Structurei

3D structure databases

ProteinModelPortaliC9JR72
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 74BTBPROSITE-ProRule annotationAdd BLAST68
Repeati159 – 209Kelch 1Add BLAST51
Repeati210 – 258Kelch 2Add BLAST49
Repeati259 – 305Kelch 3Add BLAST47
Repeati307 – 350Kelch 4Add BLAST44
Repeati352 – 400Kelch 5Add BLAST49

Domaini

The BCB domain mediates the interaction with CUL3.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG1072 Eukaryota
ENOG4110X8D LUCA
GeneTreeiENSGT00900000140914
HOGENOMiHOG000147850
InParanoidiC9JR72
KOiK21913
OMAiRLFVCLW
OrthoDBiEOG091G05A3
PhylomeDBiC9JR72
TreeFamiTF328485

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF01344 Kelch_1, 2 hits
SMARTiView protein in SMART
SM00612 Kelch, 2 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequencei

Sequence statusi: Complete.

C9JR72-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:458
Mass (Da):49,485
Last modified:November 3, 2009 - v1
Checksum:i4FFD143F16171BCD
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064889248R → S in NEM6. 1 PublicationCorresponds to variant dbSNP:rs200549195EnsemblClinVar.1
Natural variantiVAR_064890390K → N in NEM6. 1 Publication1
Natural variantiVAR_064891408R → 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
CCDSiCCDS45281.1
RefSeqiNP_001094832.1, NM_001101362.2
UniGeneiHs.586890

Genome annotation databases

EnsembliENST00000432196; ENSP00000388723; ENSG00000234438
GeneIDi390594
KEGGihsa:390594
UCSCiuc010uis.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
CCDSiCCDS45281.1
RefSeqiNP_001094832.1, NM_001101362.2
UniGeneiHs.586890

3D structure databases

ProteinModelPortaliC9JR72
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133620, 1 interactor
STRINGi9606.ENSP00000388723

PTM databases

iPTMnetiC9JR72
PhosphoSitePlusiC9JR72

Polymorphism and mutation databases

BioMutaiKBTBD13

Proteomic databases

PaxDbiC9JR72
PRIDEiC9JR72
ProteomicsDBi11337

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000432196; ENSP00000388723; ENSG00000234438
GeneIDi390594
KEGGihsa:390594
UCSCiuc010uis.3 human

Organism-specific databases

CTDi390594
DisGeNETi390594
EuPathDBiHostDB:ENSG00000234438.3
GeneCardsiKBTBD13
GeneReviewsiKBTBD13
HGNCiHGNC:37227 KBTBD13
HPAiHPA062737
MalaCardsiKBTBD13
MIMi609273 phenotype
613727 gene
neXtProtiNX_C9JR72
OpenTargetsiENSG00000234438
Orphaneti171439 Childhood-onset nemaline myopathy
PharmGKBiPA165479144
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1072 Eukaryota
ENOG4110X8D LUCA
GeneTreeiENSGT00900000140914
HOGENOMiHOG000147850
InParanoidiC9JR72
KOiK21913
OMAiRLFVCLW
OrthoDBiEOG091G05A3
PhylomeDBiC9JR72
TreeFamiTF328485

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

GenomeRNAii390594
PROiPR:C9JR72
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000234438 Expressed in 29 organ(s), highest expression level in muscle of leg

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 1 hit
PF01344 Kelch_1, 2 hits
SMARTiView protein in SMART
SM00612 Kelch, 2 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKBTBD_HUMAN
AccessioniPrimary (citable) accession number: C9JR72
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 18, 2010
Last sequence update: November 3, 2009
Last modified: November 7, 2018
This is version 74 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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