KBTBD13

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

post-translational protein modification Source: Reactome
protein ubiquitination Source: UniProtKB-UniPathway

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Ubl conjugation pathway

Biological process

Ubl conjugation pathway

Enzyme and pathway databases

Reactomeⁱ	R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000234438.3
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:37227 KBTBD13
MIMⁱ	613727 gene
neXtProtⁱ	NX_C9JR72

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.

Keywords - Diseaseⁱ

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	390594
GeneReviewsⁱ	KBTBD13
MalaCards human disease database More...MalaCardsⁱ	KBTBD13
MIMⁱ	609273 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000234438
Orphanetⁱ	171439 Childhood-onset nemaline myopathy
PharmGKBⁱ	PA165479144

Polymorphism and mutation databases

BioMutaⁱ	KBTBD13

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 conjugation

Proteomic databases

PaxDbⁱ	C9JR72
PRIDEⁱ	C9JR72
ProteomicsDBⁱ	11337

PTM databases

iPTMnetⁱ	C9JR72
PhosphoSitePlusⁱ	C9JR72

Expressionⁱ

Tissue specificityⁱ

Gene expression databases

Bgeeⁱ	ENSG00000234438 Expressed in 29 organ(s), highest expression level in muscle of leg

Bgeeⁱ

ENSG00000234438 Expressed in 29 organ(s), highest expression level in muscle of leg

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA062737

HPAⁱ

HPA062737

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

BioGridⁱ	133620, 1 interactor
STRINGⁱ	9606.ENSP00000388723

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	C9JR72
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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, Repeat

Phylogenomic databases

eggNOGⁱ	KOG1072 Eukaryota ENOG4110X8D LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00900000140914
HOGENOMⁱ	HOG000147850
InParanoidⁱ	C9JR72
KEGG Orthology (KO) More...KOⁱ	K21913
OMAⁱ	RLFVCLW
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G05A3
PhylomeDBⁱ	C9JR72
TreeFamⁱ	TF328485

Family and domain databases

Gene3Dⁱ	2.120.10.80, 1 hit
InterProⁱ	View protein in InterPro IPR000210 BTB/POZ_dom IPR015915 Kelch-typ_b-propeller IPR006652 Kelch_1 IPR011333 SKP1/BTB/POZ_sf
Pfam protein domain database More...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

Sequenceⁱ

Sequence statusⁱ: Complete.

C9JR72-1 [UniParc]FASTA Add 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 key	Position(s)	DescriptionActions	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 Publication	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS45281.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001094832.1, NM_001101362.2
UniGeneⁱ	Hs.586890

Genome annotation databases

Ensemblⁱ	ENST00000432196; ENSP00000388723; ENSG00000234438
GeneIDⁱ	390594
KEGGⁱ	hsa:390594
UCSC genome browser More...UCSCⁱ	uc010uis.3 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
C9JR72	Uncharacterized protein		MUSPF		459	UniRef90_C9JR72
kelch repeat and BTB domain-containing protein 13		Enhydra lutris kenyoni		459
Uncharacterized protein		MACNE		458
Uncharacterized protein		MACFA		458
Uncharacterized protein		CERAT		458
+32

Protein	Similar proteins		Species	Score	Length	Source
C9JR72	Uncharacterized protein		MUSPF		459	UniRef50_C9JR72
kelch repeat and BTB domain-containing protein 13		Enhydra lutris kenyoni		459
Uncharacterized protein		MACMU		458
Uncharacterized protein		MACNE		458
Uncharacterized protein		CHLSB		458
+91

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
UniGeneⁱ	Hs.586890

3D structure databases

ProteinModelPortalⁱ	C9JR72
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	133620, 1 interactor
STRINGⁱ	9606.ENSP00000388723

PTM databases

iPTMnetⁱ	C9JR72
PhosphoSitePlusⁱ	C9JR72

Polymorphism and mutation databases

BioMutaⁱ	KBTBD13

BioMutaⁱ

KBTBD13

Proteomic databases

PaxDbⁱ	C9JR72
PRIDEⁱ	C9JR72
ProteomicsDBⁱ	11337

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000432196; ENSP00000388723; ENSG00000234438
GeneIDⁱ	390594
KEGGⁱ	hsa:390594
UCSCⁱ	uc010uis.3 human

Organism-specific databases

CTDⁱ	390594
DisGeNETⁱ	390594
EuPathDBⁱ	HostDB:ENSG00000234438.3
GeneCardsⁱ	KBTBD13
GeneReviewsⁱ	KBTBD13
HGNCⁱ	HGNC:37227 KBTBD13
HPAⁱ	HPA062737
MalaCardsⁱ	KBTBD13
MIMⁱ	609273 phenotype 613727 gene
neXtProtⁱ	NX_C9JR72
OpenTargetsⁱ	ENSG00000234438
Orphanetⁱ	171439 Childhood-onset nemaline myopathy
PharmGKBⁱ	PA165479144
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1072 Eukaryota ENOG4110X8D LUCA
GeneTreeⁱ	ENSGT00900000140914
HOGENOMⁱ	HOG000147850
InParanoidⁱ	C9JR72
KOⁱ	K21913
OMAⁱ	RLFVCLW
OrthoDBⁱ	EOG091G05A3
PhylomeDBⁱ	C9JR72
TreeFamⁱ	TF328485

Enzyme and pathway databases

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

Miscellaneous databases

GenomeRNAiⁱ	390594
Protein Ontology More...PROⁱ	PR:C9JR72
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000234438 Expressed in 29 organ(s), highest expression level in muscle of leg

Bgeeⁱ

ENSG00000234438 Expressed in 29 organ(s), highest expression level in muscle of leg

Family and domain databases

Gene3Dⁱ	2.120.10.80, 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
ProtoNetⁱ	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:	November 7, 2018
	This is version 74 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

Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PATHWAY comments
Index of metabolic and biosynthesis pathways
Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - C9JR72 (KBTBD_HUMAN)

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Kelch repeat and BTB domain-containing protein 13

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Cytosol

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

Pathwayⁱ: protein ubiquitination

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ