Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

C9JR72

- KBTBD_HUMAN

UniProt

C9JR72 - KBTBD_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 43 (01 Oct 2014)
      Sequence version 1 (03 Nov 2009)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 13PRO_0000393906Add
    BLAST

    Post-translational modificationi

    Autoubiquitinated.1 Publication

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    Domaini

    The BCB domain mediates the interaction with CUL3.

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 5 Kelch repeats.Curated

    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

    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: October 1, 2014
    This is version 43 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