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C9JR72 (KBTBD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 39. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kelch repeat and BTB domain-containing protein 13
Gene names
Name:KBTBD13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length458 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. Ref.3

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1. Interacts with CUL3. Ref.3

Subcellular location

Cytoplasm Ref.3 Ref.4.

Tissue specificity

Expressed in skeletal muscle. Ref.4

Domain

The BCB domain mediates the interaction with CUL3.

Post-translational modification

Autoubiquitinated.

Involvement in disease

Nemaline myopathy 6 (NEM6) [MIM:609273]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 BTB (POZ) domain.

Contains 5 Kelch repeats.

Ontologies

Keywords
   Biological processUbl conjugation pathway
   Cellular componentCytoplasm
   DiseaseDisease mutation
Nemaline myopathy
   DomainKelch repeat
Repeat
   PTMUbl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein ubiquitination

Inferred from electronic annotation. Source: UniProtKB-UniPathway

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 458458Kelch repeat and BTB domain-containing protein 13
PRO_0000393906

Regions

Domain7 – 7468BTB
Repeat159 – 20951Kelch 1
Repeat210 – 25849Kelch 2
Repeat259 – 30547Kelch 3
Repeat307 – 35044Kelch 4
Repeat352 – 40049Kelch 5

Natural variations

Natural variant2481R → S in NEM6. Ref.4
VAR_064889
Natural variant3901K → N in NEM6. Ref.4
VAR_064890
Natural variant4081R → C in NEM6. Ref.4
VAR_064891

Sequences

Sequence LengthMass (Da)Tools
C9JR72 [UniParc].

Last modified November 3, 2009. Version 1.
Checksum: 4FFD143F16171BCD

FASTA45849,485
        10         20         30         40         50         60 
MARGPQTLVQ VWVGGQLFQA DRALLVEHCG FFRGLFRSGM RETRAAEVRL GVLSAGGFRA 

        70         80         90        100        110        120 
TLQVLRGDRP ALAAEDELLQ AVECAAFLQA PALARFLEHN LTSDNCALLC DAAAAFGLRD 

       130        140        150        160        170        180 
VFHSAALFIC DGERELAAEL ALPEARAYVA ALRPSSYAAV STHTPAPGFL EDASRTLCYL 

       190        200        210        220        230        240 
DEEEDAWRTL AALPLEASTL LAGVATLGNK LYIVGGVRGA SKEVVELGFC YDPDGGTWHE 

       250        260        270        280        290        300 
FPSPHQPRYD TALAGFDGRL YAIGGEFQRT PISSVERYDP AAGCWSFVAD LPQPAAGVPC 

       310        320        330        340        350        360 
AQACGRLFVC LWRPADTTAV VEYAVRTDAW LPVAELRRPQ SYGHCMVAHR DSLYVVRNGP 

       370        380        390        400        410        420 
SDDFLHCAID CLNLATGQWT ALPGQFVNSK GALFTAVVRG DTVYTVNRMF TLLYAIEGGT 

       430        440        450 
WRLLREKAGF PRPGSLQTFL LRLPPGAPGP VTSTTAEL 

« Hide

References

« Hide 'large scale' references
[1]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase."
Sambuughin N., Swietnicki W., Techtmann S., Matrosova V., Wallace T., Goldfarb L., Maynard E.
Biochem. Biophys. Res. Commun. 421:743-749(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, AUTOUBIQUITINATION, INTERACTION WITH CUL3, SUBCELLULAR LOCATION.
[4]"Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores."
Sambuughin N., Yau K.S., Olive M., Duff R.M., Bayarsaikhan M., Lu S., Gonzalez-Mera L., Sivadorai P., Nowak K.J., Ravenscroft G., Mastaglia F.L., North K.N., Ilkovski B., Kremer H., Lammens M., van Engelen B.G., Fabian V., Lamont P. expand/collapse author list , Davis M.R., Laing N.G., Goldfarb L.G.
Am. J. Hum. Genet. 87:842-847(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NEM6 SER-248; ASN-390 AND CYS-408, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC013553 Genomic DNA. No translation available.
CH471082 Genomic DNA. Translation: EAW77711.1.
RefSeqNP_001094832.1. NM_001101362.2.
UniGeneHs.586890.

3D structure databases

ProteinModelPortalC9JR72.
SMRC9JR72. Positions 3-94, 138-432.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid133620. 2 interactions.
STRING9606.ENSP00000388723.

PTM databases

PhosphoSiteC9JR72.

Proteomic databases

PaxDbC9JR72.
PRIDEC9JR72.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000432196; ENSP00000388723; ENSG00000234438.
GeneID390594.
KEGGhsa:390594.
UCSCuc010uis.2. human.

Organism-specific databases

CTD390594.
GeneCardsGC15P065369.
HGNCHGNC:37227. KBTBD13.
HPAHPA062737.
MIM609273. phenotype.
613727. gene.
neXtProtNX_C9JR72.
Orphanet171439. Childhood-onset nemaline myopathy.
PharmGKBPA165479144.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280568.
HOGENOMHOG000147850.
OMANCALLCD.
OrthoDBEOG7X9G6R.
PhylomeDBC9JR72.
TreeFamTF328485.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

BgeeC9JR72.

Family and domain databases

Gene3D2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamPF00651. BTB. 1 hit.
PF01344. Kelch_1. 2 hits.
[Graphical view]
SMARTSM00225. BTB. 1 hit.
SM00612. Kelch. 2 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi390594.
NextBio103889.
PROC9JR72.
SOURCESearch...

Entry information

Entry nameKBTBD_HUMAN
AccessionPrimary (citable) accession number: C9JR72
Entry history
Integrated into UniProtKB/Swiss-Prot: May 18, 2010
Last sequence update: November 3, 2009
Last modified: April 16, 2014
This is version 39 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM