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Q9UH77

- KLHL3_HUMAN

UniProt

Q9UH77 - KLHL3_HUMAN

Protein

Kelch-like protein 3

Gene

KLHL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (27 Apr 2001)
      Previous versions | rss
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    Functioni

    Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation.6 Publications

    Pathwayi

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. distal tubule morphogenesis Source: UniProtKB
    2. ion homeostasis Source: UniProtKB
    3. protein K48-linked ubiquitination Source: UniProtKB
    4. protein ubiquitination Source: UniProtKB
    5. protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB
    6. renal sodium ion absorption Source: UniProtKB

    Keywords - Biological processi

    Ubl conjugation pathway

    Keywords - Ligandi

    Actin-binding

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch-like protein 3
    Gene namesi
    Name:KLHL3
    Synonyms:KIAA1129
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

    Organism-specific databases

    HGNCiHGNC:6354. KLHL3.

    Subcellular locationi

    Cytoplasmcytoskeleton 1 Publication. Cytoplasmcytosol 1 Publication

    GO - Cellular componenti

    1. Cul3-RING ubiquitin ligase complex Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-SubCell
    3. cytosol Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]: A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti77 – 771A → E in PHA2D; impaired interaction with CUL3. 1 Publication
    VAR_067501
    Natural varianti78 – 781M → V in PHA2D; impaired interaction with CUL3. 1 Publication
    Corresponds to variant rs199469624 [ dbSNP | Ensembl ].
    VAR_067502
    Natural varianti85 – 851E → A in PHA2D; impaired interaction with CUL3. 1 Publication
    VAR_067503
    Natural varianti164 – 1641C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 1 Publication
    VAR_067504
    Natural varianti228 – 2281R → G in PHA2D. 1 Publication
    VAR_067505
    Natural varianti309 – 3091Q → R in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067506
    Natural varianti322 – 3221F → C in PHA2D. 1 Publication
    VAR_067507
    Natural varianti336 – 3361R → I in PHA2D. 1 Publication
    VAR_067508
    Natural varianti340 – 3401A → V in PHA2D; does not affect interaction with WNK1 or CUL3. 1 Publication
    VAR_067509
    Natural varianti361 – 3611V → M in PHA2D. 1 Publication
    VAR_067510
    Natural varianti362 – 3621R → W in PHA2D. 1 Publication
    Corresponds to variant rs200892557 [ dbSNP | Ensembl ].
    VAR_067511
    Natural varianti384 – 3841R → Q in PHA2D. 1 Publication
    VAR_067512
    Natural varianti384 – 3841R → W in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067513
    Natural varianti387 – 3871L → P in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067514
    Natural varianti398 – 3981A → V in PHA2D. 1 Publication
    VAR_067515
    Natural varianti410 – 4101S → L in PHA2D; impaired interaction with WNK1. 2 Publications
    VAR_067516
    Natural varianti426 – 4261P → L in PHA2D. 1 Publication
    VAR_067517
    Natural varianti427 – 4271M → T in PHA2D. 1 Publication
    VAR_067518
    Natural varianti431 – 4311R → Q in PHA2D. 1 Publication
    VAR_067519
    Natural varianti432 – 4321S → N in PHA2D; impaired interaction with WNK1. 2 Publications
    VAR_067520
    Natural varianti433 – 4331S → G in PHA2D. 1 Publication
    VAR_067521
    Natural varianti433 – 4331S → N in PHA2D. 1 Publication
    VAR_067522
    Natural varianti494 – 4941A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 1 Publication
    VAR_067524
    Natural varianti500 – 5001G → V in PHA2D. 1 Publication
    VAR_067525
    Natural varianti501 – 5011P → T in PHA2D. 1 Publication
    VAR_067526
    Natural varianti528 – 5281R → C in PHA2D; impaired interaction with WNK1. 2 Publications
    VAR_067527
    Natural varianti528 – 5281R → H in PHA2D; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 2 Publications
    VAR_067528
    Natural varianti529 – 5291N → K in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067529
    Natural varianti557 – 5571Y → C in PHA2D. 1 Publication
    VAR_067530
    Natural varianti575 – 5751R → W in PHA2D. 1 Publication
    VAR_067531

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614495. phenotype.
    Orphaneti300525. Pseudohypoaldosteronism type 2D.
    PharmGKBiPA30144.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 587587Kelch-like protein 3PRO_0000119103Add
    BLAST

    Proteomic databases

    PaxDbiQ9UH77.
    PRIDEiQ9UH77.

    PTM databases

    PhosphoSiteiQ9UH77.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    ArrayExpressiQ9UH77.
    BgeeiQ9UH77.
    CleanExiHS_KLHL3.
    GenevestigatoriQ9UH77.

    Organism-specific databases

    HPAiHPA051291.

    Interactioni

    Subunit structurei

    Component of the BCR(KLHL3) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL3 and RBX1 Probable. Interacts with SLC12A3. Interacts with WNK1 and WNK4.7 PublicationsCurated

    Protein-protein interaction databases

    BioGridi117637. 9 interactions.
    IntActiQ9UH77. 2 interactions.
    STRINGi9606.ENSP00000312397.

    Structurei

    Secondary structure

    1
    587
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi301 – 3066
    Beta strandi309 – 3146
    Beta strandi317 – 3215
    Turni322 – 3254
    Beta strandi326 – 3316
    Beta strandi337 – 3393
    Beta strandi341 – 3455
    Beta strandi348 – 3558
    Beta strandi357 – 36812
    Turni369 – 3724
    Beta strandi373 – 3764
    Beta strandi388 – 3925
    Beta strandi395 – 3995
    Beta strandi404 – 4074
    Beta strandi411 – 4155
    Turni416 – 4194
    Beta strandi420 – 4245
    Beta strandi435 – 4395
    Beta strandi442 – 4465
    Turni451 – 4544
    Beta strandi460 – 4645
    Turni465 – 4684
    Beta strandi469 – 4724
    Beta strandi484 – 4885
    Beta strandi491 – 4955
    Beta strandi507 – 5104
    Turni512 – 5143
    Beta strandi517 – 5204
    Beta strandi531 – 5355
    Beta strandi538 – 5425
    Beta strandi545 – 5506
    Beta strandi554 – 5585
    Turni559 – 5624
    Beta strandi563 – 5664
    Beta strandi579 – 5846

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4CH9X-ray1.84A/B298-587[»]
    4HXIX-ray3.51A24-276[»]
    ProteinModelPortaliQ9UH77.
    SMRiQ9UH77. Positions 29-260, 300-585.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini50 – 11768BTBPROSITE-ProRule annotationsAdd
    BLAST
    Domaini152 – 254103BACKAdd
    BLAST
    Repeati302 – 34746Kelch 1Add
    BLAST
    Repeati348 – 39447Kelch 2Add
    BLAST
    Repeati396 – 44146Kelch 3Add
    BLAST
    Repeati442 – 49049Kelch 4Add
    BLAST
    Repeati491 – 53747Kelch 5Add
    BLAST
    Repeati539 – 58547Kelch 6Add
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotations
    Contains 6 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG149197.
    HOGENOMiHOG000230814.
    HOVERGENiHBG014286.
    KOiK10443.
    OMAiRSKRLLC.
    OrthoDBiEOG7ZWD17.
    PhylomeDBiQ9UH77.
    TreeFamiTF329218.

    Family and domain databases

    Gene3Di2.130.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR006652. Kelch_1.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 6 hits.
    [Graphical view]
    PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q9UH77-1) [UniParc]FASTAAdd to Basket

    Also known as: KLHL3A

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEGESVKLSS QTLIQAGDDE KNQRTITVNP AHMGKAFKVM NELRSKQLLC    50
    DVMIVAEDVE IEAHRVVLAA CSPYFCAMFT GDMSESKAKK IEIKDVDGQT 100
    LSKLIDYIYT AEIEVTEENV QVLLPAASLL QLMDVRQNCC DFLQSQLHPT 150
    NCLGIRAFAD VHTCTDLLQQ ANAYAEQHFP EVMLGEEFLS LSLDQVCSLI 200
    SSDKLTVSSE EKVFEAVISW INYEKETRLE HMAKLMEHVR LPLLPRDYLV 250
    QTVEEEALIK NNNTCKDFLI EAMKYHLLPL DQRLLIKNPR TKPRTPVSLP 300
    KVMIVVGGQA PKAIRSVECY DFEEDRWDQI AELPSRRCRA GVVFMAGHVY 350
    AVGGFNGSLR VRTVDVYDGV KDQWTSIASM QERRSTLGAA VLNDLLYAVG 400
    GFDGSTGLAS VEAYSYKTNE WFFVAPMNTR RSSVGVGVVE GKLYAVGGYD 450
    GASRQCLSTV EQYNPATNEW IYVADMSTRR SGAGVGVLSG QLYATGGHDG 500
    PLVRKSVEVY DPGTNTWKQV ADMNMCRRNA GVCAVNGLLY VVGGDDGSCN 550
    LASVEYYNPV TDKWTLLPTN MSTGRSYAGV AVIHKSL 587
    Length:587
    Mass (Da):64,970
    Last modified:April 27, 2001 - v2
    Checksum:iC5026A246620BEA1
    GO
    Isoform B (identifier: Q9UH77-2) [UniParc]FASTAAdd to Basket

    Also known as: KLHL3B

    The sequence of this isoform differs from the canonical sequence as follows:
         1-32: Missing.

    Show »
    Length:555
    Mass (Da):61,490
    Checksum:i1FE9B061BD542347
    GO
    Isoform C (identifier: Q9UH77-3) [UniParc]FASTAAdd to Basket

    Also known as: KLHL3C

    The sequence of this isoform differs from the canonical sequence as follows:
         1-82: Missing.

    Show »
    Length:505
    Mass (Da):55,927
    Checksum:i0B4157AC6E474F70
    GO

    Sequence cautioni

    The sequence BAA86443.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAB97127.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti77 – 771A → E in PHA2D; impaired interaction with CUL3. 1 Publication
    VAR_067501
    Natural varianti78 – 781M → V in PHA2D; impaired interaction with CUL3. 1 Publication
    Corresponds to variant rs199469624 [ dbSNP | Ensembl ].
    VAR_067502
    Natural varianti85 – 851E → A in PHA2D; impaired interaction with CUL3. 1 Publication
    VAR_067503
    Natural varianti164 – 1641C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 1 Publication
    VAR_067504
    Natural varianti228 – 2281R → G in PHA2D. 1 Publication
    VAR_067505
    Natural varianti309 – 3091Q → R in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067506
    Natural varianti322 – 3221F → C in PHA2D. 1 Publication
    VAR_067507
    Natural varianti336 – 3361R → I in PHA2D. 1 Publication
    VAR_067508
    Natural varianti340 – 3401A → V in PHA2D; does not affect interaction with WNK1 or CUL3. 1 Publication
    VAR_067509
    Natural varianti361 – 3611V → M in PHA2D. 1 Publication
    VAR_067510
    Natural varianti362 – 3621R → W in PHA2D. 1 Publication
    Corresponds to variant rs200892557 [ dbSNP | Ensembl ].
    VAR_067511
    Natural varianti384 – 3841R → Q in PHA2D. 1 Publication
    VAR_067512
    Natural varianti384 – 3841R → W in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067513
    Natural varianti387 – 3871L → P in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067514
    Natural varianti398 – 3981A → V in PHA2D. 1 Publication
    VAR_067515
    Natural varianti410 – 4101S → L in PHA2D; impaired interaction with WNK1. 2 Publications
    VAR_067516
    Natural varianti426 – 4261P → L in PHA2D. 1 Publication
    VAR_067517
    Natural varianti427 – 4271M → T in PHA2D. 1 Publication
    VAR_067518
    Natural varianti431 – 4311R → Q in PHA2D. 1 Publication
    VAR_067519
    Natural varianti432 – 4321S → N in PHA2D; impaired interaction with WNK1. 2 Publications
    VAR_067520
    Natural varianti433 – 4331S → G in PHA2D. 1 Publication
    VAR_067521
    Natural varianti433 – 4331S → N in PHA2D. 1 Publication
    VAR_067522
    Natural varianti438 – 4381V → I Found in a patient with hypertension; unknown pathological significance. 1 Publication
    VAR_067523
    Natural varianti494 – 4941A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 1 Publication
    VAR_067524
    Natural varianti500 – 5001G → V in PHA2D. 1 Publication
    VAR_067525
    Natural varianti501 – 5011P → T in PHA2D. 1 Publication
    VAR_067526
    Natural varianti528 – 5281R → C in PHA2D; impaired interaction with WNK1. 2 Publications
    VAR_067527
    Natural varianti528 – 5281R → H in PHA2D; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 2 Publications
    VAR_067528
    Natural varianti529 – 5291N → K in PHA2D; impaired interaction with WNK1. 1 Publication
    VAR_067529
    Natural varianti557 – 5571Y → C in PHA2D. 1 Publication
    VAR_067530
    Natural varianti575 – 5751R → W in PHA2D. 1 Publication
    VAR_067531

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8282Missing in isoform C. 1 PublicationVSP_002817Add
    BLAST
    Alternative sequencei1 – 3232Missing in isoform B. 1 PublicationVSP_002816Add
    BLAST

    Sequence conflict

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti227 – 2271T → N in AAF20938. (PubMed:10843806)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF208068 mRNA. Translation: AAF20938.1.
    AF208069 mRNA. Translation: AAF20939.1.
    AF208070 mRNA. Translation: AAF20995.1.
    AB032955 mRNA. Translation: BAA86443.1. Different initiation.
    AK314707 mRNA. Translation: BAG37254.1.
    AC004021 Genomic DNA. Translation: AAB97127.1. Sequence problems.
    AC092318 Genomic DNA. No translation available.
    AC106775 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62183.1.
    CCDSiCCDS4192.1. [Q9UH77-1]
    CCDS58969.1. [Q9UH77-3]
    CCDS58970.1. [Q9UH77-2]
    RefSeqiNP_001244123.1. NM_001257194.1. [Q9UH77-2]
    NP_001244124.1. NM_001257195.1. [Q9UH77-3]
    NP_059111.2. NM_017415.2. [Q9UH77-1]
    UniGeneiHs.655084.

    Genome annotation databases

    EnsembliENST00000309755; ENSP00000312397; ENSG00000146021. [Q9UH77-1]
    ENST00000506491; ENSP00000424828; ENSG00000146021. [Q9UH77-3]
    ENST00000508657; ENSP00000422099; ENSG00000146021. [Q9UH77-2]
    GeneIDi26249.
    KEGGihsa:26249.
    UCSCiuc003lbr.5. human. [Q9UH77-1]

    Polymorphism databases

    DMDMi13431657.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF208068 mRNA. Translation: AAF20938.1 .
    AF208069 mRNA. Translation: AAF20939.1 .
    AF208070 mRNA. Translation: AAF20995.1 .
    AB032955 mRNA. Translation: BAA86443.1 . Different initiation.
    AK314707 mRNA. Translation: BAG37254.1 .
    AC004021 Genomic DNA. Translation: AAB97127.1 . Sequence problems.
    AC092318 Genomic DNA. No translation available.
    AC106775 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62183.1 .
    CCDSi CCDS4192.1. [Q9UH77-1 ]
    CCDS58969.1. [Q9UH77-3 ]
    CCDS58970.1. [Q9UH77-2 ]
    RefSeqi NP_001244123.1. NM_001257194.1. [Q9UH77-2 ]
    NP_001244124.1. NM_001257195.1. [Q9UH77-3 ]
    NP_059111.2. NM_017415.2. [Q9UH77-1 ]
    UniGenei Hs.655084.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4CH9 X-ray 1.84 A/B 298-587 [» ]
    4HXI X-ray 3.51 A 24-276 [» ]
    ProteinModelPortali Q9UH77.
    SMRi Q9UH77. Positions 29-260, 300-585.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117637. 9 interactions.
    IntActi Q9UH77. 2 interactions.
    STRINGi 9606.ENSP00000312397.

    PTM databases

    PhosphoSitei Q9UH77.

    Polymorphism databases

    DMDMi 13431657.

    Proteomic databases

    PaxDbi Q9UH77.
    PRIDEi Q9UH77.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000309755 ; ENSP00000312397 ; ENSG00000146021 . [Q9UH77-1 ]
    ENST00000506491 ; ENSP00000424828 ; ENSG00000146021 . [Q9UH77-3 ]
    ENST00000508657 ; ENSP00000422099 ; ENSG00000146021 . [Q9UH77-2 ]
    GeneIDi 26249.
    KEGGi hsa:26249.
    UCSCi uc003lbr.5. human. [Q9UH77-1 ]

    Organism-specific databases

    CTDi 26249.
    GeneCardsi GC05M136953.
    HGNCi HGNC:6354. KLHL3.
    HPAi HPA051291.
    MIMi 605775. gene.
    614495. phenotype.
    neXtProti NX_Q9UH77.
    Orphaneti 300525. Pseudohypoaldosteronism type 2D.
    PharmGKBi PA30144.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149197.
    HOGENOMi HOG000230814.
    HOVERGENi HBG014286.
    KOi K10443.
    OMAi RSKRLLC.
    OrthoDBi EOG7ZWD17.
    PhylomeDBi Q9UH77.
    TreeFami TF329218.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    ChiTaRSi KLHL3. human.
    GeneWikii KLHL3.
    GenomeRNAii 26249.
    NextBioi 48460.
    PROi Q9UH77.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UH77.
    Bgeei Q9UH77.
    CleanExi HS_KLHL3.
    Genevestigatori Q9UH77.

    Family and domain databases

    Gene3Di 2.130.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR006652. Kelch_1.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 6 hits.
    [Graphical view ]
    PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene."
      Lai F., Orelli B.J., Till B.G., Godley L.A., Fernald A.A., Pamintuan L., Le Beau M.M.
      Genomics 66:65-75(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C), ALTERNATIVE SPLICING.
      Tissue: Bone marrow.
    2. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
      Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
      DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Brain.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Kidney.
    4. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases."
      Furukawa M., He Y.J., Borchers C., Xiong Y.
      Nat. Cell Biol. 5:1001-1007(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS AN E3 UBIQUITIN-PROTEIN LIGASE, INTERACTION WITH CUL3.
    7. "The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction."
      Ohta A., Schumacher F.R., Mehellou Y., Johnson C., Knebel A., Macartney T.J., Wood N.T., Alessi D.R., Kurz T.
      Biochem. J. 451:111-122(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CUL3; WNK1 AND WNK4, CHARACTERIZATION OF VARIANTS VARIANTS PHA2D GLU-77; VAL-78; ALA-85; PHE-164; ARG-309; VAL-340; GLN-384; PRO-387; LEU-410; ASN-432; ASN-433; THR-494; HIS-528; CYS-528 AND LYS-529.
    8. Cited for: FUNCTION, IDENTIFICATION IN A BCR (BTB-CUL3-RBX1) E3 UBIQUITIN LIGASE COMPLEX, INTERACTION WITH WNK4 AND CUL3, CHARACTERIZATION OF VARIANT PHA2D HIS-528.
    9. "Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation."
      Wu G., Peng J.B.
      FEBS Lett. 587:1717-1722(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH WNK4, CHARACTERIZATION OF VARIANTS VARIANTS PHA2D GLU-77; PHE-164; ARG-309; PRO-387 AND CYS-528.
    10. "Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4."
      Shibata S., Zhang J., Puthumana J., Stone K.L., Lifton R.P.
      Proc. Natl. Acad. Sci. U.S.A. 110:7838-7843(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN A BCR (BTB-CUL3-RBX1) E3 UBIQUITIN LIGASE COMPLEX, INTERACTION WITH WNK1; WNK4 AND CUL3, CHARACTERIZATION OF VARIANT PHA2D HIS-528.
    11. "Crystal structure of KLHL3 in complex with Cullin3."
      Ji A.X., Prive G.G.
      PLoS ONE 8:E60445-E60445(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.51 ANGSTROMS) OF 24-276 IN COMPLEX WITH CUL3.
    12. Cited for: VARIANTS PHA2D GLU-77; VAL-78; ALA-85; PHE-164; ARG-309; CYS-322; ILE-336; VAL-340; GLN-384; PRO-387; LEU-410; THR-427; GLN-431; ASN-432; ASN-433; THR-494; THR-501; HIS-528; CYS-528; CYS-557 AND TRP-575, VARIANT ILE-438.
    13. Cited for: VARIANTS PHA2D GLY-228; MET-361; TRP-362; TRP-384; VAL-398; LEU-410; LEU-426; ASN-432; GLY-433; VAL-500; HIS-528; CYS-528 AND LYS-529, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH SLC12A3.

    Entry informationi

    Entry nameiKLHL3_HUMAN
    AccessioniPrimary (citable) accession number: Q9UH77
    Secondary accession number(s): B2RBK7
    , Q9UH75, Q9UH76, Q9ULU0, Q9Y6V6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: April 27, 2001
    Last modified: October 1, 2014
    This is version 120 of the entry and version 2 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

    Caution

    The BCR(KLHL3) complex was initially thought to act by mediating ubiquitination of SLC12A3/NCC (PubMed:22406640). However, it was later shown that effects on SLC12A3/NCC are indirect and caused by impaired ubiquitination of WNK4 (PubMed:23387299).2 Publications

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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