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C9JR72

- KBTBD_HUMAN

UniProt

C9JR72 - KBTBD_HUMAN

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Protein
Kelch repeat and BTB domain-containing protein 13
Gene
KBTBD13
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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

Pathwayi

GO - Biological processi

  1. protein ubiquitination Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143.

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:37227. KBTBD13.

Subcellular locationi

Cytoplasm 2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti248 – 2481R → S in NEM6. 1 Publication
VAR_064889
Natural varianti390 – 3901K → N in NEM6. 1 Publication
VAR_064890
Natural varianti408 – 4081R → C in NEM6. 1 Publication
VAR_064891

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

MIMi609273. phenotype.
Orphaneti171439. Childhood-onset nemaline myopathy.
PharmGKBiPA165479144.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 458458Kelch repeat and BTB domain-containing protein 13
PRO_0000393906Add
BLAST

Post-translational modificationi

Autoubiquitinated.

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiC9JR72.
PRIDEiC9JR72.

PTM databases

PhosphoSiteiC9JR72.

Expressioni

Tissue specificityi

Expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiC9JR72.

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. 2 interactions.
STRINGi9606.ENSP00000388723.

Structurei

3D structure databases

ProteinModelPortaliC9JR72.
SMRiC9JR72. Positions 138-434.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini7 – 7468BTB
Add
BLAST
Repeati159 – 20951Kelch 1
Add
BLAST
Repeati210 – 25849Kelch 2
Add
BLAST
Repeati259 – 30547Kelch 3
Add
BLAST
Repeati307 – 35044Kelch 4
Add
BLAST
Repeati352 – 40049Kelch 5
Add
BLAST

Domaini

The BCB domain mediates the interaction with CUL3.

Sequence similaritiesi

Contains 1 BTB (POZ) domain.
Contains 5 Kelch repeats.

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiNOG280568.
HOGENOMiHOG000147850.
OMAiTSDNCAL.
OrthoDBiEOG7X9G6R.
PhylomeDBiC9JR72.
TreeFamiTF328485.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF01344. Kelch_1. 2 hits.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
SM00612. Kelch. 2 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

C9JR72-1 [UniParc]FASTAAdd to Basket

« Hide

MARGPQTLVQ VWVGGQLFQA DRALLVEHCG FFRGLFRSGM RETRAAEVRL    50
GVLSAGGFRA TLQVLRGDRP ALAAEDELLQ AVECAAFLQA PALARFLEHN 100
LTSDNCALLC DAAAAFGLRD VFHSAALFIC DGERELAAEL ALPEARAYVA 150
ALRPSSYAAV STHTPAPGFL EDASRTLCYL DEEEDAWRTL AALPLEASTL 200
LAGVATLGNK LYIVGGVRGA SKEVVELGFC YDPDGGTWHE FPSPHQPRYD 250
TALAGFDGRL YAIGGEFQRT PISSVERYDP AAGCWSFVAD LPQPAAGVPC 300
AQACGRLFVC LWRPADTTAV VEYAVRTDAW LPVAELRRPQ SYGHCMVAHR 350
DSLYVVRNGP SDDFLHCAID CLNLATGQWT ALPGQFVNSK GALFTAVVRG 400
DTVYTVNRMF TLLYAIEGGT WRLLREKAGF PRPGSLQTFL LRLPPGAPGP 450
VTSTTAEL 458
Length:458
Mass (Da):49,485
Last modified:November 3, 2009 - v1
Checksum:i4FFD143F16171BCD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti248 – 2481R → S in NEM6. 1 Publication
VAR_064889
Natural varianti390 – 3901K → N in NEM6. 1 Publication
VAR_064890
Natural varianti408 – 4081R → C in NEM6. 1 Publication
VAR_064891

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
SMRi C9JR72. Positions 138-434.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 133620. 2 interactions.
STRINGi 9606.ENSP00000388723.

PTM databases

PhosphoSitei C9JR72.

Proteomic databases

PaxDbi C9JR72.
PRIDEi C9JR72.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000432196 ; ENSP00000388723 ; ENSG00000234438 .
GeneIDi 390594.
KEGGi hsa:390594.
UCSCi uc010uis.2. human.

Organism-specific databases

CTDi 390594.
GeneCardsi GC15P065369.
GeneReviewsi KBTBD13.
HGNCi HGNC:37227. KBTBD13.
HPAi HPA062737.
MIMi 609273. phenotype.
613727. gene.
neXtProti NX_C9JR72.
Orphaneti 171439. Childhood-onset nemaline myopathy.
PharmGKBi PA165479144.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG280568.
HOGENOMi HOG000147850.
OMAi TSDNCAL.
OrthoDBi EOG7X9G6R.
PhylomeDBi C9JR72.
TreeFami TF328485.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

GenomeRNAii 390594.
NextBioi 103889.
PROi C9JR72.
SOURCEi Search...

Gene expression databases

Bgeei C9JR72.

Family and domain databases

Gene3Di 2.120.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
[Graphical view ]
Pfami PF00651. BTB. 1 hit.
PF01344. Kelch_1. 2 hits.
[Graphical view ]
SMARTi SM00225. BTB. 1 hit.
SM00612. Kelch. 2 hits.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: FUNCTION, AUTOUBIQUITINATION, INTERACTION WITH CUL3, SUBCELLULAR LOCATION.
  4. Cited for: VARIANTS NEM6 SER-248; ASN-390 AND CYS-408, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiKBTBD_HUMAN
AccessioniPrimary (citable) accession number: C9JR72
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 18, 2010
Last sequence update: November 3, 2009
Last modified: July 9, 2014
This is version 42 of the entry and version 1 of the sequence. [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 chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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