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Q9UH77

- KLHL3_HUMAN

UniProt

Q9UH77 - KLHL3_HUMAN

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Protein
Kelch-like protein 3
Gene
KLHL3, KIAA1129
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:6354. KLHL3.

Subcellular locationi

Cytoplasmcytoskeleton. Cytoplasmcytosol 1 Publication

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771A → E in PHA2D; impaired interaction with CUL3. 3 Publications
VAR_067501
Natural varianti78 – 781M → V in PHA2D; impaired interaction with CUL3. 2 Publications
Corresponds to variant rs199469624 [ dbSNP | Ensembl ].
VAR_067502
Natural varianti85 – 851E → A in PHA2D; impaired interaction with CUL3. 2 Publications
VAR_067503
Natural varianti164 – 1641C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 3 Publications
VAR_067504
Natural varianti228 – 2281R → G in PHA2D. 1 Publication
VAR_067505
Natural varianti309 – 3091Q → R in PHA2D; impaired interaction with WNK1. 3 Publications
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. 2 Publications
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. 2 Publications
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. 3 Publications
VAR_067514
Natural varianti398 – 3981A → V in PHA2D. 1 Publication
VAR_067515
Natural varianti410 – 4101S → L in PHA2D; impaired interaction with WNK1. 3 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. 3 Publications
VAR_067520
Natural varianti433 – 4331S → G in PHA2D. 1 Publication
VAR_067521
Natural varianti433 – 4331S → N in PHA2D. 2 Publications
VAR_067522
Natural varianti494 – 4941A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 2 Publications
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. 4 Publications
VAR_067527
Natural varianti528 – 5281R → H in PHA2D; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 5 Publications
VAR_067528
Natural varianti529 – 5291N → K in PHA2D; impaired interaction with WNK1. 2 Publications
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 3
PRO_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 Inferred. Interacts with SLC12A3. Interacts with WNK1 and WNK4.6 Publications

Protein-protein interaction databases

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

Structurei

Secondary structure

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 BTB (POZ) domain.
Contains 6 Kelch repeats.

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]

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. 3 Publications
VAR_067501
Natural varianti78 – 781M → V in PHA2D; impaired interaction with CUL3. 2 Publications
Corresponds to variant rs199469624 [ dbSNP | Ensembl ].
VAR_067502
Natural varianti85 – 851E → A in PHA2D; impaired interaction with CUL3. 2 Publications
VAR_067503
Natural varianti164 – 1641C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 3 Publications
VAR_067504
Natural varianti228 – 2281R → G in PHA2D. 1 Publication
VAR_067505
Natural varianti309 – 3091Q → R in PHA2D; impaired interaction with WNK1. 3 Publications
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. 2 Publications
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. 2 Publications
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. 3 Publications
VAR_067514
Natural varianti398 – 3981A → V in PHA2D. 1 Publication
VAR_067515
Natural varianti410 – 4101S → L in PHA2D; impaired interaction with WNK1. 3 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. 3 Publications
VAR_067520
Natural varianti433 – 4331S → G in PHA2D. 1 Publication
VAR_067521
Natural varianti433 – 4331S → N in PHA2D. 2 Publications
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. 2 Publications
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. 4 Publications
VAR_067527
Natural varianti528 – 5281R → H in PHA2D; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 5 Publications
VAR_067528
Natural varianti529 – 5291N → K in PHA2D; impaired interaction with WNK1. 2 Publications
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.
VSP_002817Add
BLAST
Alternative sequencei1 – 3232Missing in isoform B.
VSP_002816Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti227 – 2271T → N in AAF20938. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 119 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 (1 Publication). However, it was later shown that effects on SLC12A3/NCC are indirect and caused by impaired ubiquitination of WNK4 (1 Publication).

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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