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Protein

Kelch-like protein 3

Gene

KLHL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

  • structural molecule activity Source: ProtInc

GO - Biological processi

  • distal tubule morphogenesis Source: UniProtKB
  • ion homeostasis Source: UniProtKB
  • protein K48-linked ubiquitination Source: UniProtKB
  • protein ubiquitination Source: UniProtKB
  • protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB
  • renal sodium ion absorption Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146021-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:6354. KLHL3.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Pseudohypoaldosteronism 2D (PHA2D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614495
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06750177A → E in PHA2D; impaired interaction with CUL3. 3 PublicationsCorresponds to variant rs199469623dbSNPEnsembl.1
Natural variantiVAR_06750278M → V in PHA2D; impaired interaction with CUL3. 2 PublicationsCorresponds to variant rs199469624dbSNPEnsembl.1
Natural variantiVAR_06750385E → A in PHA2D; impaired interaction with CUL3. 2 PublicationsCorresponds to variant rs199469625dbSNPEnsembl.1
Natural variantiVAR_067504164C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 3 PublicationsCorresponds to variant rs199469626dbSNPEnsembl.1
Natural variantiVAR_067505228R → G in PHA2D. 1 Publication1
Natural variantiVAR_067506309Q → R in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469627dbSNPEnsembl.1
Natural variantiVAR_067507322F → C in PHA2D. 1 PublicationCorresponds to variant rs199469639dbSNPEnsembl.1
Natural variantiVAR_067508336R → I in PHA2D. 1 PublicationCorresponds to variant rs199469640dbSNPEnsembl.1
Natural variantiVAR_067509340A → V in PHA2D; does not affect interaction with WNK1 or CUL3. 2 PublicationsCorresponds to variant rs199469628dbSNPEnsembl.1
Natural variantiVAR_067510361V → M in PHA2D. 1 Publication1
Natural variantiVAR_067511362R → W in PHA2D. 1 PublicationCorresponds to variant rs200892557dbSNPEnsembl.1
Natural variantiVAR_067512384R → Q in PHA2D. 2 PublicationsCorresponds to variant rs199469629dbSNPEnsembl.1
Natural variantiVAR_067513384R → W in PHA2D; impaired interaction with WNK1. 1 Publication1
Natural variantiVAR_067514387L → P in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469630dbSNPEnsembl.1
Natural variantiVAR_067515398A → V in PHA2D. 1 PublicationCorresponds to variant rs387907155dbSNPEnsembl.1
Natural variantiVAR_067516410S → L in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469641dbSNPEnsembl.1
Natural variantiVAR_067517426P → L in PHA2D. 1 PublicationCorresponds to variant rs387907156dbSNPEnsembl.1
Natural variantiVAR_067518427M → T in PHA2D. 1 PublicationCorresponds to variant rs199469642dbSNPEnsembl.1
Natural variantiVAR_067519431R → Q in PHA2D. 1 PublicationCorresponds to variant rs199469643dbSNPEnsembl.1
Natural variantiVAR_067520432S → N in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469631dbSNPEnsembl.1
Natural variantiVAR_067521433S → G in PHA2D. 1 Publication1
Natural variantiVAR_067522433S → N in PHA2D. 2 PublicationsCorresponds to variant rs199469632dbSNPEnsembl.1
Natural variantiVAR_067524494A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 2 PublicationsCorresponds to variant rs199469633dbSNPEnsembl.1
Natural variantiVAR_067525500G → V in PHA2D. 1 PublicationCorresponds to variant rs746774345dbSNPEnsembl.1
Natural variantiVAR_067526501P → T in PHA2D. 1 PublicationCorresponds to variant rs199469634dbSNPEnsembl.1
Natural variantiVAR_067527528R → C in PHA2D; impaired interaction with WNK1. 4 PublicationsCorresponds to variant rs199469635dbSNPEnsembl.1
Natural variantiVAR_067528528R → H in PHA2D; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 5 PublicationsCorresponds to variant rs199469636dbSNPEnsembl.1
Natural variantiVAR_067529529N → K in PHA2D; impaired interaction with WNK1. 2 Publications1
Natural variantiVAR_067530557Y → C in PHA2D. 1 PublicationCorresponds to variant rs199469645dbSNPEnsembl.1
Natural variantiVAR_067531575R → W in PHA2D. 1 PublicationCorresponds to variant rs199469646dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi26249.
MalaCardsiKLHL3.
MIMi614495. phenotype.
OpenTargetsiENSG00000146021.
Orphaneti300525. Pseudohypoaldosteronism type 2D.
PharmGKBiPA30144.

Polymorphism and mutation databases

BioMutaiKLHL3.
DMDMi13431657.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001191031 – 587Kelch-like protein 3Add BLAST587

Proteomic databases

EPDiQ9UH77.
PaxDbiQ9UH77.
PeptideAtlasiQ9UH77.
PRIDEiQ9UH77.

PTM databases

iPTMnetiQ9UH77.
PhosphoSitePlusiQ9UH77.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000146021.
CleanExiHS_KLHL3.
ExpressionAtlasiQ9UH77. baseline and differential.
GenevisibleiQ9UH77. HS.

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.Curated7 Publications

Protein-protein interaction databases

BioGridi117637. 18 interactors.
IntActiQ9UH77. 5 interactors.
STRINGi9606.ENSP00000312397.

Structurei

Secondary structure

1587
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi301 – 306Combined sources6
Beta strandi309 – 314Combined sources6
Beta strandi317 – 321Combined sources5
Turni322 – 325Combined sources4
Beta strandi326 – 331Combined sources6
Beta strandi337 – 339Combined sources3
Beta strandi341 – 345Combined sources5
Beta strandi348 – 355Combined sources8
Beta strandi357 – 368Combined sources12
Turni369 – 372Combined sources4
Beta strandi373 – 376Combined sources4
Beta strandi388 – 392Combined sources5
Beta strandi395 – 399Combined sources5
Beta strandi404 – 407Combined sources4
Beta strandi411 – 415Combined sources5
Turni416 – 419Combined sources4
Beta strandi420 – 424Combined sources5
Beta strandi435 – 439Combined sources5
Beta strandi442 – 446Combined sources5
Turni451 – 454Combined sources4
Beta strandi460 – 464Combined sources5
Turni465 – 468Combined sources4
Beta strandi469 – 472Combined sources4
Beta strandi484 – 488Combined sources5
Beta strandi491 – 495Combined sources5
Beta strandi507 – 510Combined sources4
Turni512 – 514Combined sources3
Beta strandi517 – 520Combined sources4
Beta strandi531 – 535Combined sources5
Beta strandi538 – 542Combined sources5
Beta strandi545 – 550Combined sources6
Beta strandi554 – 558Combined sources5
Turni559 – 562Combined sources4
Beta strandi563 – 566Combined sources4
Beta strandi579 – 584Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CH9X-ray1.84A/B298-587[»]
4HXIX-ray3.51A24-276[»]
ProteinModelPortaliQ9UH77.
SMRiQ9UH77.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 117BTBPROSITE-ProRule annotationAdd BLAST68
Domaini152 – 254BACKAdd BLAST103
Repeati302 – 347Kelch 1Add BLAST46
Repeati348 – 394Kelch 2Add BLAST47
Repeati396 – 441Kelch 3Add BLAST46
Repeati442 – 490Kelch 4Add BLAST49
Repeati491 – 537Kelch 5Add BLAST47
Repeati539 – 585Kelch 6Add BLAST47

Sequence similaritiesi

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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG014286.
InParanoidiQ9UH77.
KOiK10443.
OMAiTNMSNGR.
OrthoDBiEOG091G04QJ.
PhylomeDBiQ9UH77.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
IPR030578. KLHL3.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF179. PTHR24412:SF179. 1 hit.
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. AlignAdd to basket

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

        10         20         30         40         50
MEGESVKLSS QTLIQAGDDE KNQRTITVNP AHMGKAFKVM NELRSKQLLC
60 70 80 90 100
DVMIVAEDVE IEAHRVVLAA CSPYFCAMFT GDMSESKAKK IEIKDVDGQT
110 120 130 140 150
LSKLIDYIYT AEIEVTEENV QVLLPAASLL QLMDVRQNCC DFLQSQLHPT
160 170 180 190 200
NCLGIRAFAD VHTCTDLLQQ ANAYAEQHFP EVMLGEEFLS LSLDQVCSLI
210 220 230 240 250
SSDKLTVSSE EKVFEAVISW INYEKETRLE HMAKLMEHVR LPLLPRDYLV
260 270 280 290 300
QTVEEEALIK NNNTCKDFLI EAMKYHLLPL DQRLLIKNPR TKPRTPVSLP
310 320 330 340 350
KVMIVVGGQA PKAIRSVECY DFEEDRWDQI AELPSRRCRA GVVFMAGHVY
360 370 380 390 400
AVGGFNGSLR VRTVDVYDGV KDQWTSIASM QERRSTLGAA VLNDLLYAVG
410 420 430 440 450
GFDGSTGLAS VEAYSYKTNE WFFVAPMNTR RSSVGVGVVE GKLYAVGGYD
460 470 480 490 500
GASRQCLSTV EQYNPATNEW IYVADMSTRR SGAGVGVLSG QLYATGGHDG
510 520 530 540 550
PLVRKSVEVY DPGTNTWKQV ADMNMCRRNA GVCAVNGLLY VVGGDDGSCN
560 570 580
LASVEYYNPV TDKWTLLPTN MSTGRSYAGV AVIHKSL
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 AAB97127 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA86443 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti227T → N in AAF20938 (PubMed:10843806).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06750177A → E in PHA2D; impaired interaction with CUL3. 3 PublicationsCorresponds to variant rs199469623dbSNPEnsembl.1
Natural variantiVAR_06750278M → V in PHA2D; impaired interaction with CUL3. 2 PublicationsCorresponds to variant rs199469624dbSNPEnsembl.1
Natural variantiVAR_06750385E → A in PHA2D; impaired interaction with CUL3. 2 PublicationsCorresponds to variant rs199469625dbSNPEnsembl.1
Natural variantiVAR_067504164C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 3 PublicationsCorresponds to variant rs199469626dbSNPEnsembl.1
Natural variantiVAR_067505228R → G in PHA2D. 1 Publication1
Natural variantiVAR_067506309Q → R in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469627dbSNPEnsembl.1
Natural variantiVAR_067507322F → C in PHA2D. 1 PublicationCorresponds to variant rs199469639dbSNPEnsembl.1
Natural variantiVAR_067508336R → I in PHA2D. 1 PublicationCorresponds to variant rs199469640dbSNPEnsembl.1
Natural variantiVAR_067509340A → V in PHA2D; does not affect interaction with WNK1 or CUL3. 2 PublicationsCorresponds to variant rs199469628dbSNPEnsembl.1
Natural variantiVAR_067510361V → M in PHA2D. 1 Publication1
Natural variantiVAR_067511362R → W in PHA2D. 1 PublicationCorresponds to variant rs200892557dbSNPEnsembl.1
Natural variantiVAR_067512384R → Q in PHA2D. 2 PublicationsCorresponds to variant rs199469629dbSNPEnsembl.1
Natural variantiVAR_067513384R → W in PHA2D; impaired interaction with WNK1. 1 Publication1
Natural variantiVAR_067514387L → P in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469630dbSNPEnsembl.1
Natural variantiVAR_067515398A → V in PHA2D. 1 PublicationCorresponds to variant rs387907155dbSNPEnsembl.1
Natural variantiVAR_067516410S → L in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469641dbSNPEnsembl.1
Natural variantiVAR_067517426P → L in PHA2D. 1 PublicationCorresponds to variant rs387907156dbSNPEnsembl.1
Natural variantiVAR_067518427M → T in PHA2D. 1 PublicationCorresponds to variant rs199469642dbSNPEnsembl.1
Natural variantiVAR_067519431R → Q in PHA2D. 1 PublicationCorresponds to variant rs199469643dbSNPEnsembl.1
Natural variantiVAR_067520432S → N in PHA2D; impaired interaction with WNK1. 3 PublicationsCorresponds to variant rs199469631dbSNPEnsembl.1
Natural variantiVAR_067521433S → G in PHA2D. 1 Publication1
Natural variantiVAR_067522433S → N in PHA2D. 2 PublicationsCorresponds to variant rs199469632dbSNPEnsembl.1
Natural variantiVAR_067523438V → I Found in a patient with hypertension; unknown pathological significance. 1 Publication1
Natural variantiVAR_067524494A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 2 PublicationsCorresponds to variant rs199469633dbSNPEnsembl.1
Natural variantiVAR_067525500G → V in PHA2D. 1 PublicationCorresponds to variant rs746774345dbSNPEnsembl.1
Natural variantiVAR_067526501P → T in PHA2D. 1 PublicationCorresponds to variant rs199469634dbSNPEnsembl.1
Natural variantiVAR_067527528R → C in PHA2D; impaired interaction with WNK1. 4 PublicationsCorresponds to variant rs199469635dbSNPEnsembl.1
Natural variantiVAR_067528528R → H in PHA2D; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 5 PublicationsCorresponds to variant rs199469636dbSNPEnsembl.1
Natural variantiVAR_067529529N → K in PHA2D; impaired interaction with WNK1. 2 Publications1
Natural variantiVAR_067530557Y → C in PHA2D. 1 PublicationCorresponds to variant rs199469645dbSNPEnsembl.1
Natural variantiVAR_067531575R → W in PHA2D. 1 PublicationCorresponds to variant rs199469646dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0028171 – 82Missing in isoform C. 1 PublicationAdd BLAST82
Alternative sequenceiVSP_0028161 – 32Missing in isoform B. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.6. human. [Q9UH77-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CH9X-ray1.84A/B298-587[»]
4HXIX-ray3.51A24-276[»]
ProteinModelPortaliQ9UH77.
SMRiQ9UH77.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117637. 18 interactors.
IntActiQ9UH77. 5 interactors.
STRINGi9606.ENSP00000312397.

PTM databases

iPTMnetiQ9UH77.
PhosphoSitePlusiQ9UH77.

Polymorphism and mutation databases

BioMutaiKLHL3.
DMDMi13431657.

Proteomic databases

EPDiQ9UH77.
PaxDbiQ9UH77.
PeptideAtlasiQ9UH77.
PRIDEiQ9UH77.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309755; ENSP00000312397; ENSG00000146021. [Q9UH77-1]
ENST00000506491; ENSP00000424828; ENSG00000146021. [Q9UH77-3]
ENST00000508657; ENSP00000422099; ENSG00000146021. [Q9UH77-2]
GeneIDi26249.
KEGGihsa:26249.
UCSCiuc003lbr.6. human. [Q9UH77-1]

Organism-specific databases

CTDi26249.
DisGeNETi26249.
GeneCardsiKLHL3.
HGNCiHGNC:6354. KLHL3.
HPAiHPA051291.
MalaCardsiKLHL3.
MIMi605775. gene.
614495. phenotype.
neXtProtiNX_Q9UH77.
OpenTargetsiENSG00000146021.
Orphaneti300525. Pseudohypoaldosteronism type 2D.
PharmGKBiPA30144.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG014286.
InParanoidiQ9UH77.
KOiK10443.
OMAiTNMSNGR.
OrthoDBiEOG091G04QJ.
PhylomeDBiQ9UH77.
TreeFamiTF329218.

Enzyme and pathway databases

UniPathwayiUPA00143.
BioCyciZFISH:ENSG00000146021-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

ChiTaRSiKLHL3. human.
GeneWikiiKLHL3.
GenomeRNAii26249.
PROiQ9UH77.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146021.
CleanExiHS_KLHL3.
ExpressionAtlasiQ9UH77. baseline and differential.
GenevisibleiQ9UH77. HS.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
IPR030578. KLHL3.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF179. PTHR24412:SF179. 1 hit.
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...

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: November 30, 2016
This is version 141 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.