Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
We are aiming to switch to the new UniProt website on Monday, May 9. Please explore and share your feedback. Take me to the new website.

UniProtKB - C9JR72 (KBTBD_HUMAN)

Entry version 90 (23 Feb 2022)
Sequence version 1 (03 Nov 2009)
Previous versions | rss
Add a publicationFeedback
Protein

Kelch repeat and BTB domain-containing protein 13

Gene

KBTBD13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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

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.

<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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		C9JR72

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8951664, Neddylation
R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		C9JR72

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 13
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KBTBD13
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:37227, KBTBD13

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613727, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_C9JR72

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000234438

<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

Keywords - Cellular componenti

Cytoplasm

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064889248R → S in NEM6. 1 PublicationCorresponds to variant dbSNP:rs200549195EnsemblClinVar.1
Natural variantiVAR_064890390K → N in NEM6. 1 PublicationCorresponds to variant dbSNP:rs1364598710EnsemblClinVar.1
Natural variantiVAR_064891408R → C in NEM6. 1 PublicationCorresponds to variant dbSNP:rs387907090EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Nemaline myopathy

Organism-specific databases

DisGeNET

More...DisGeNETi		390594

MalaCards human disease database

More...MalaCardsi		KBTBD13
MIMi609273, phenotype

Open Targets

More...OpenTargetsi		ENSG00000234438

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		171439, Childhood-onset nemaline myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA165479144

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		C9JR72, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KBTBD13

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003939061 – 458Kelch repeat and BTB domain-containing protein 13Add BLAST458

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autoubiquitinated.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		C9JR72

PeptideAtlas

More...PeptideAtlasi		C9JR72

PRoteomics IDEntifications database

More...PRIDEi		C9JR72

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		C9JR72

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		C9JR72

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000234438, Expressed in skeletal muscle tissue and 32 other tissues

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000234438, Tissue enriched (skeletal)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		133620, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000388723

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		C9JR72, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		C9JR72

Database of comparative protein structure models

More...ModBasei		Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini7 – 74BTBPROSITE-ProRule annotationAdd BLAST68
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati159 – 209Kelch 1Add BLAST51
Repeati210 – 258Kelch 2Add BLAST49
Repeati259 – 305Kelch 3Add BLAST47
Repeati307 – 350Kelch 4Add BLAST44
Repeati352 – 400Kelch 5Add BLAST49

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The BCB domain mediates the interaction with CUL3.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1072, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161629

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_049036_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		C9JR72

Identification of Orthologs from Complete Genome Data

More...OMAi		HTPTFEF

Database of Orthologous Groups

More...OrthoDBi		558840at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		C9JR72

TreeFam database of animal gene trees

More...TreeFami		TF328485

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.80, 1 hit
3.30.710.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00612, Kelch, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF117281, SSF117281, 1 hit
SSF54695, SSF54695, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50097, BTB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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 PublicationCorresponds to variant dbSNP:rs1364598710EnsemblClinVar.1
Natural variantiVAR_064891408R → C in NEM6. 1 PublicationCorresponds to variant dbSNP:rs387907090EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000432196; ENSP00000388723; ENSG00000234438

Database of genes from NCBI RefSeq genomes

More...GeneIDi		390594

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:390594

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000432196.5; ENSP00000388723.2; NM_001101362.3; NP_001094832.1

UCSC genome browser

More...UCSCi		uc010uis.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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

3D structure databases

SMRiC9JR72
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi133620, 1 interactor
STRINGi9606.ENSP00000388723

PTM databases

iPTMnetiC9JR72
PhosphoSitePlusiC9JR72

Genetic variation databases

BioMutaiKBTBD13

Proteomic databases

PaxDbiC9JR72
PeptideAtlasiC9JR72
PRIDEiC9JR72

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		56472, 58 antibodies from 14 providers

The DNASU plasmid repository

More...DNASUi		390594

Genome annotation databases

EnsembliENST00000432196; ENSP00000388723; ENSG00000234438
GeneIDi390594
KEGGihsa:390594
MANE-SelectiENST00000432196.5; ENSP00000388723.2; NM_001101362.3; NP_001094832.1
UCSCiuc010uis.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		390594
DisGeNETi390594

GeneCards: human genes, protein and diseases

More...GeneCardsi		KBTBD13
HGNCiHGNC:37227, KBTBD13
HPAiENSG00000234438, Tissue enriched (skeletal)
MalaCardsiKBTBD13
MIMi609273, phenotype
613727, gene
neXtProtiNX_C9JR72
OpenTargetsiENSG00000234438
Orphaneti171439, Childhood-onset nemaline myopathy
PharmGKBiPA165479144
VEuPathDBiHostDB:ENSG00000234438

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1072, Eukaryota
GeneTreeiENSGT00940000161629
HOGENOMiCLU_049036_0_0_1
InParanoidiC9JR72
OMAiHTPTFEF
OrthoDBi558840at2759
PhylomeDBiC9JR72
TreeFamiTF328485

Enzyme and pathway databases

UniPathwayiUPA00143
PathwayCommonsiC9JR72
ReactomeiR-HSA-8951664, Neddylation
R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiC9JR72

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		390594, 4 hits in 1074 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		390594
PharosiC9JR72, Tbio

Protein Ontology

More...PROi		PR:C9JR72
RNActiC9JR72, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000234438, Expressed in skeletal muscle tissue and 32 other tissues

Family and domain databases

Gene3Di2.120.10.80, 1 hit
3.30.710.10, 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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKBTBD_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: C9JR72
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again