UniProtKB - Q9UH77 (KLHL3_HUMAN)
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>sp|Q9UH77|KLHL3_HUMAN Kelch-like protein 3 OS=Homo sapiens OX=9606 GN=KLHL3 PE=1 SV=2 MEGESVKLSSQTLIQAGDDEKNQRTITVNPAHMGKAFKVMNELRSKQLLCDVMIVAEDVE IEAHRVVLAACSPYFCAMFTGDMSESKAKKIEIKDVDGQTLSKLIDYIYTAEIEVTEENV QVLLPAASLLQLMDVRQNCCDFLQSQLHPTNCLGIRAFADVHTCTDLLQQANAYAEQHFP EVMLGEEFLSLSLDQVCSLISSDKLTVSSEEKVFEAVISWINYEKETRLEHMAKLMEHVR LPLLPRDYLVQTVEEEALIKNNNTCKDFLIEAMKYHLLPLDQRLLIKNPRTKPRTPVSLP KVMIVVGGQAPKAIRSVECYDFEEDRWDQIAELPSRRCRAGVVFMAGHVYAVGGFNGSLR VRTVDVYDGVKDQWTSIASMQERRSTLGAAVLNDLLYAVGGFDGSTGLASVEAYSYKTNE WFFVAPMNTRRSSVGVGVVEGKLYAVGGYDGASRQCLSTVEQYNPATNEWIYVADMSTRR SGAGVGVLSGQLYATGGHDGPLVRKSVEVYDPGTNTWKQVADMNMCRRNAGVCAVNGLLY VVGGDDGSCNLASVEYYNPVTDKWTLLPTNMSTGRSYAGVAVIHKSLCommunity curation ()Add a publicationFeedback
Kelch-like protein 3
KLHL3
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
6 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.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. - Ref.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 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. - Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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 PHA2D GLU-77; PHE-164; ARG-309; PRO-387 AND CYS-528. - Ref.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. - Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
Caution
<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
- Ref.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 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. - Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination
This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 PublicationManual assertion based on experiment ini
- Ref.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.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- actin binding Source: UniProtKB-KW
- cullin family protein binding Source: UniProtKB
<p>Inferred from Physical Interaction</p>
<p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p>
Inferred from physical interactioni
- Ref.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.
- structural molecule activity Source: ProtInc
<p>Traceable Author Statement</p>
<p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p>
Traceable author statementi
- Ref.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.
GO - Biological processi
- distal tubule morphogenesis Source: UniProtKB
<p>Inferred from Mutant Phenotype</p>
<p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p>
Inferred from mutant phenotypei
- Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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. - Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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.
- ion homeostasis Source: UniProtKBInferred from mutant phenotypei
- Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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.
- post-translational protein modification Source: Reactome
- protein K48-linked ubiquitination Source: UniProtKB
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.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.
- protein ubiquitination Source: UniProtKBInferred from direct assayi
- Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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.
- renal sodium ion absorption Source: UniProtKBInferred from mutant phenotypei
- Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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. - Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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.
- selective autophagy Source: ARUK-UCLTraceable author statementi
- "Involvement of selective autophagy mediated by p62/SQSTM1 in KLHL3-dependent WNK4 degradation."
Mori Y., Mori T., Wakabayashi M., Yoshizaki Y., Zeniya M., Sohara E., Rai T., Uchida S.
Biochem J 472:33-41(2015) [PubMed] [Europe PMC] [Abstract]
- ubiquitin-dependent protein catabolic process Source: UniProtKBInferred from direct assayi
- Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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.
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
Molecular function | Actin-binding |
Biological process | Ubl conjugation pathway |
Enzyme and pathway databases
Pathway Commons web resource for biological pathway data More...PathwayCommonsi | Q9UH77 |
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-8951664, Neddylation R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
UniPathway: a resource for the exploration and annotation of metabolic pathways More...UniPathwayi | UPA00143 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Kelch-like protein 3 |
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:KLHL31 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
<p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi Synonyms:KIAA11291 Publication Manual assertion based on opinion ini
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<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
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Organism-specific databases
Human Gene Nomenclature Database More...HGNCi | HGNC:6354, KLHL3 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 605775, gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q9UH77 |
Eukaryotic Pathogen, Vector and Host Database Resources More...VEuPathDBi | HostDB:ENSG00000146021.14 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Cytosol
- cytosol 1 Publication
Manual assertion based on experiment ini
- Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
- cytosol 1 Publication
Cytoskeleton
- cytoskeleton 1 Publication
Manual assertion based on experiment ini
- Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
- cytoskeleton 1 Publication
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Cytosol
- cytosol Source: UniProtKBInferred from direct assayi
- Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
- cytosol Source: UniProtKBInferred from direct assayi
Other locations
- Cul3-RING ubiquitin ligase complex Source: UniProtKBInferred from direct assayi
- Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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.
- Cul3-RING ubiquitin ligase complex Source: UniProtKBInferred from direct assayi
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Pseudohypoaldosteronism 2D (PHA2D)11 PublicationsManual assertion based on experiment ini
- Ref.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 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. - Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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 PHA2D GLU-77; PHE-164; ARG-309; PRO-387 AND CYS-528. - Ref.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. - Ref.11"Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3."
Yoshizaki Y., Mori Y., Tsuzaki Y., Mori T., Nomura N., Wakabayashi M., Takahashi D., Zeniya M., Kikuchi E., Araki Y., Ando F., Isobe K., Nishida H., Ohta A., Susa K., Inoue Y., Chiga M., Rai T. , Sasaki S., Uchida S., Sohara E.
Biochem. Biophys. Res. Commun. 467:229-234(2015) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-10; THR-295; THR-375; SER-376 AND SER-433, INTERACTION WITH WNK4, CHARACTERIZATION OF VARIANT PHA2D GLY-433, MUTAGENESIS OF SER-433. - Ref.12"KLHL3 knockout mice reveal the physiological role of KLHL3 and the pathophysiology of pseudohypoaldosteronism type II caused by mutant KLHL3."
Sasaki E., Susa K., Mori T., Isobe K., Araki Y., Inoue Y., Yoshizaki Y., Ando F., Mori Y., Mandai S., Zeniya M., Takahashi D., Nomura N., Rai T., Uchida S., Sohara E.
Mol. Cell. Biol. 37:0-0(2017) [PubMed] [Europe PMC] [Abstract]Cited for: SUBUNIT, VARIANT PHA2D HIS-528, CHARACTERIZATION OF VARIANT PHA2D HIS-528. - Ref.15"Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities."
Boyden L.M., Choi M., Choate K.A., Nelson-Williams C.J., Farhi A., Toka H.R., Tikhonova I.R., Bjornson R., Mane S.M., Colussi G., Lebel M., Gordon R.D., Semmekrot B.A., Poujol A., Valimaki M.J., De Ferrari M.E., Sanjad S.A., Gutkin M. , Karet F.E., Tucci J.R., Stockigt J.R., Keppler-Noreuil K.M., Porter C.C., Anand S.K., Whiteford M.L., Davis I.D., Dewar S.B., Bettinelli A., Fadrowski J.J., Belsha C.W., Hunley T.E., Nelson R.D., Trachtman H., Cole T.R., Pinsk M., Bockenhauer D., Shenoy M., Vaidyanathan P., Foreman J.W., Rasoulpour M., Thameem F., Al-Shahrouri H.Z., Radhakrishnan J., Gharavi A.G., Goilav B., Lifton R.P.
Nature 482:98-102(2012) [PubMed] [Europe PMC] [Abstract]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. - Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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. - Ref.17"A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation."
Mitani M., Furuichi M., Narumi S., Hasegawa T., Chiga M., Uchida S., Sato S.
Clin. Pediatr. Endocrinol. 25:127-134(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PHA2D PRO-387. - Ref.18"A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension."
Kelly D., Rodzlan M.R., Jeunemaitre X., Wall C.
QJM 109:487-488(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PHA2D TYR-498. - Ref.19"Familial hyperkalemia and hypertension (FHHt) and KLHL3: Description of a family with a new recessive mutation (S553L) compared to a family with a dominant mutation, Q309R, with analysis of urinary sodium chloride cotransporter."
Kliuk-Ben Bassat O., Carmon V., Hanukoglu A., Ganon L., Massalha E., Holtzman E.J., Farfel Z., Mayan H.
Nephron 137:77-84(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PHA2D ARG-309 AND LEU-553.
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]
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]
Wu G., Peng J.B.
FEBS Lett. 587:1717-1722(2013) [PubMed] [Europe PMC] [Abstract]
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]
Yoshizaki Y., Mori Y., Tsuzaki Y., Mori T., Nomura N., Wakabayashi M., Takahashi D., Zeniya M., Kikuchi E., Araki Y., Ando F., Isobe K., Nishida H., Ohta A., Susa K., Inoue Y., Chiga M., Rai T. , Sasaki S., Uchida S., Sohara E.
Biochem. Biophys. Res. Commun. 467:229-234(2015) [PubMed] [Europe PMC] [Abstract]
Sasaki E., Susa K., Mori T., Isobe K., Araki Y., Inoue Y., Yoshizaki Y., Ando F., Mori Y., Mandai S., Zeniya M., Takahashi D., Nomura N., Rai T., Uchida S., Sohara E.
Mol. Cell. Biol. 37:0-0(2017) [PubMed] [Europe PMC] [Abstract]
Boyden L.M., Choi M., Choate K.A., Nelson-Williams C.J., Farhi A., Toka H.R., Tikhonova I.R., Bjornson R., Mane S.M., Colussi G., Lebel M., Gordon R.D., Semmekrot B.A., Poujol A., Valimaki M.J., De Ferrari M.E., Sanjad S.A., Gutkin M. , Karet F.E., Tucci J.R., Stockigt J.R., Keppler-Noreuil K.M., Porter C.C., Anand S.K., Whiteford M.L., Davis I.D., Dewar S.B., Bettinelli A., Fadrowski J.J., Belsha C.W., Hunley T.E., Nelson R.D., Trachtman H., Cole T.R., Pinsk M., Bockenhauer D., Shenoy M., Vaidyanathan P., Foreman J.W., Rasoulpour M., Thameem F., Al-Shahrouri H.Z., Radhakrishnan J., Gharavi A.G., Goilav B., Lifton R.P.
Nature 482:98-102(2012) [PubMed] [Europe PMC] [Abstract]
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]
Mitani M., Furuichi M., Narumi S., Hasegawa T., Chiga M., Uchida S., Sato S.
Clin. Pediatr. Endocrinol. 25:127-134(2016) [PubMed] [Europe PMC] [Abstract]
Kelly D., Rodzlan M.R., Jeunemaitre X., Wall C.
QJM 109:487-488(2016) [PubMed] [Europe PMC] [Abstract]
Kliuk-Ben Bassat O., Carmon V., Hanukoglu A., Ganon L., Massalha E., Holtzman E.J., Farfel Z., Mayan H.
Nephron 137:77-84(2017) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067501 | 77 | A → E in PHA2D; impaired interaction with CUL3. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067502 | 78 | M → V in PHA2D; impaired interaction with CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067503 | 85 | E → A in PHA2D; impaired interaction with CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067504 | 164 | C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067505 | 228 | R → G in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067506 | 309 | Q → R in PHA2D; impaired interaction with WNK1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067507 | 322 | F → C in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067508 | 336 | R → I in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067509 | 340 | A → V in PHA2D; does not affect interaction with WNK1 or CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067510 | 361 | V → M in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067511 | 362 | R → W in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067512 | 384 | R → Q in PHA2D; impaired interaction with WNK1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067513 | 384 | R → W in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067514 | 387 | L → P in PHA2D; abolished interaction with WNK1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067515 | 398 | A → V in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067516 | 410 | S → L in PHA2D; impaired interaction with WNK1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067517 | 426 | P → L in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067518 | 427 | M → T in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067519 | 431 | R → Q in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067520 | 432 | S → N in PHA2D; impaired interaction with WNK1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067521 | 433 | S → G in PHA2D; decreased interaction with WNK4. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067522 | 433 | S → N in PHA2D. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067524 | 494 | A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079630 | 498 | H → Y in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067525 | 500 | G → V in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067526 | 501 | P → T in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067527 | 528 | R → C in PHA2D; impaired interaction with WNK1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067528 | 528 | R → H in PHA2D; dominant negative effect due to homodimer formation; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 6 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067529 | 529 | N → K in PHA2D; impaired interaction with WNK1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079631 | 553 | S → L in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067530 | 557 | Y → C in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067531 | 575 | R → W in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 433 | S → E or D: Phosphomimetic mutant that shows decreased interaction with WNK4. 1 Publication Manual assertion based on experiment ini
| 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNET More...DisGeNETi | 26249 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | KLHL3 |
MalaCards human disease database More...MalaCardsi | KLHL3 |
MIMi | 614495, phenotype |
Open Targets More...OpenTargetsi | ENSG00000146021 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 300525, Pseudohypoaldosteronism type 2D |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA30144 |
Miscellaneous databases
Pharos NIH Druggable Genome Knowledgebase More...Pharosi | Q9UH77, Tbio |
Genetic variation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | KLHL3 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 13431657 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000119103 | 1 – 587 | Kelch-like protein 3Add BLAST | 587 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 10 | Phosphoserine1 Publication Manual assertion based on experiment ini
| 1 | |
Modified residuei | 295 | Phosphothreonine1 Publication Manual assertion based on experiment ini
| 1 | |
Modified residuei | 375 | Phosphothreonine1 Publication Manual assertion based on experiment ini
| 1 | |
Modified residuei | 376 | Phosphoserine1 Publication Manual assertion based on experiment ini
| 1 | |
Modified residuei | 433 | Phosphoserine; by PKA2 Publications Manual assertion based on experiment ini
| 1 |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
Manual assertion based on experiment ini
- Ref.11"Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3."
Yoshizaki Y., Mori Y., Tsuzaki Y., Mori T., Nomura N., Wakabayashi M., Takahashi D., Zeniya M., Kikuchi E., Araki Y., Ando F., Isobe K., Nishida H., Ohta A., Susa K., Inoue Y., Chiga M., Rai T. , Sasaki S., Uchida S., Sohara E.
Biochem. Biophys. Res. Commun. 467:229-234(2015) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-10; THR-295; THR-375; SER-376 AND SER-433, INTERACTION WITH WNK4, CHARACTERIZATION OF VARIANT PHA2D GLY-433, MUTAGENESIS OF SER-433. - Ref.13"Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study."
Wang L., Peng J.B.
Protein Sci. 26:163-173(2017) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-433, INTERACTION WITH WNK4.
Keywords - PTMi
PhosphoproteinProteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | Q9UH77 |
MassIVE - Mass Spectrometry Interactive Virtual Environment More...MassIVEi | Q9UH77 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q9UH77 |
PeptideAtlas More...PeptideAtlasi | Q9UH77 |
PRoteomics IDEntifications database More...PRIDEi | Q9UH77 |
ProteomicsDB: a multi-organism proteome resource More...ProteomicsDBi | 84282 [Q9UH77-1] 84283 [Q9UH77-2] 84284 [Q9UH77-3] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q9UH77 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q9UH77 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Manual assertion based on experiment ini
- Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000146021, Expressed in cerebellar vermis and 213 other tissues |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q9UH77, baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q9UH77, HS |
Organism-specific databases
Human Protein Atlas More...HPAi | ENSG00000146021, Tissue enriched (brain) |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
Homodimer (PubMed:28052936).
Component of the BCR(KLHL3) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL3 and RBX1 (Probable) (PubMed:23453970, PubMed:23576762, PubMed:23573258).
Interacts with SLC12A3 (PubMed:22406640).
Interacts with WNK1 and WNK4 (PubMed:23387299, PubMed:23453970, PubMed:23573258, PubMed:23576762, PubMed:23665031, PubMed:26435498, PubMed:27727489).
Interacts with CLDN8 (By similarity).
By similarityManual assertion inferred from sequence similarity toi
9 PublicationsManual assertion based on experiment ini
- Ref.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. - Ref.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 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. - Ref.8"Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension."
Wakabayashi M., Mori T., Isobe K., Sohara E., Susa K., Araki Y., Chiga M., Kikuchi E., Nomura N., Mori Y., Matsuo H., Murata T., Nomura S., Asano T., Kawaguchi H., Nonoyama S., Rai T., Sasaki S., Uchida S.
Cell Rep. 3:858-868(2013) [PubMed] [Europe PMC] [Abstract]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. - Ref.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 PHA2D GLU-77; PHE-164; ARG-309; PRO-387 AND CYS-528. - Ref.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. - Ref.11"Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3."
Yoshizaki Y., Mori Y., Tsuzaki Y., Mori T., Nomura N., Wakabayashi M., Takahashi D., Zeniya M., Kikuchi E., Araki Y., Ando F., Isobe K., Nishida H., Ohta A., Susa K., Inoue Y., Chiga M., Rai T. , Sasaki S., Uchida S., Sohara E.
Biochem. Biophys. Res. Commun. 467:229-234(2015) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-10; THR-295; THR-375; SER-376 AND SER-433, INTERACTION WITH WNK4, CHARACTERIZATION OF VARIANT PHA2D GLY-433, MUTAGENESIS OF SER-433. - Ref.12"KLHL3 knockout mice reveal the physiological role of KLHL3 and the pathophysiology of pseudohypoaldosteronism type II caused by mutant KLHL3."
Sasaki E., Susa K., Mori T., Isobe K., Araki Y., Inoue Y., Yoshizaki Y., Ando F., Mori Y., Mandai S., Zeniya M., Takahashi D., Nomura N., Rai T., Uchida S., Sohara E.
Mol. Cell. Biol. 37:0-0(2017) [PubMed] [Europe PMC] [Abstract]Cited for: SUBUNIT, VARIANT PHA2D HIS-528, CHARACTERIZATION OF VARIANT PHA2D HIS-528. - Ref.13"Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study."
Wang L., Peng J.B.
Protein Sci. 26:163-173(2017) [PubMed] [Europe PMC] [Abstract]Cited for: PHOSPHORYLATION AT SER-433, INTERACTION WITH WNK4. - Ref.16"KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron."
Louis-Dit-Picard H., Barc J., Trujillano D., Miserey-Lenkei S., Bouatia-Naji N., Pylypenko O., Beaurain G., Bonnefond A., Sand O., Simian C., Vidal-Petiot E., Soukaseum C., Mandet C., Broux F., Chabre O., Delahousse M., Esnault V., Fiquet B. , Houillier P., Bagnis C.I., Koenig J., Konrad M., Landais P., Mourani C., Niaudet P., Probst V., Thauvin C., Unwin R.J., Soroka S.D., Ehret G., Ossowski S., Caulfield M., Bruneval P., Estivill X., Froguel P., Hadchouel J., Schott J.J., Jeunemaitre X.
Nat. Genet. 44:456-460(2012) [PubMed] [Europe PMC] [Abstract]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.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
Show more detailsHide detailsQ9UH77
GO - Molecular functioni
- actin binding Source: UniProtKB-KW
- cullin family protein binding Source: UniProtKBInferred from physical interactioni
- Ref.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.
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGRID) More...BioGRIDi | 117637, 21 interactors |
CORUM comprehensive resource of mammalian protein complexes More...CORUMi | Q9UH77 |
The Eukaryotic Linear Motif resource for Functional Sites in Proteins More...ELMi | Q9UH77 |
Protein interaction database and analysis system More...IntActi | Q9UH77, 14 interactors |
Molecular INTeraction database More...MINTi | Q9UH77 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000312397 |
Miscellaneous databases
RNAct, Protein-RNA interaction predictions for model organisms. More...RNActi | Q9UH77, protein |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 301 – 306 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Beta strandi | 309 – 314 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Beta strandi | 317 – 321 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code 'T'.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 322 – 325 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 326 – 331 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Beta strandi | 337 – 339 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 341 – 345 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 348 – 355 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 8 | |
Beta strandi | 357 – 368 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
Turni | 369 – 372 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 373 – 376 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 388 – 392 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 395 – 399 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 404 – 407 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 411 – 415 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Turni | 416 – 419 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 420 – 424 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 435 – 439 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 442 – 446 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Turni | 451 – 454 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 460 – 464 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Turni | 465 – 468 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 469 – 472 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 484 – 488 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 491 – 495 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 507 – 510 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Turni | 512 – 514 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 517 – 520 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 531 – 535 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 538 – 542 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 545 – 550 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Beta strandi | 554 – 558 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Turni | 559 – 562 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 563 – 566 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 575 – 577 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 579 – 584 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 |
3D structure databases
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | Q9UH77 |
Database of comparative protein structure models More...ModBasei | Search... |
Protein Data Bank in Europe - Knowledge Base More...PDBe-KBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 50 – 117 | BTBPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 68 | |
Domaini | 152 – 254 | BACKAdd BLAST | 103 | |
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati | 302 – 347 | Kelch 1Add BLAST | 46 | |
Repeati | 348 – 394 | Kelch 2Add BLAST | 47 | |
Repeati | 396 – 441 | Kelch 3Add BLAST | 46 | |
Repeati | 442 – 490 | Kelch 4Add BLAST | 49 | |
Repeati | 491 – 537 | Kelch 5Add BLAST | 47 | |
Repeati | 539 – 585 | Kelch 6Add BLAST | 47 |
Keywords - Domaini
Kelch repeat, RepeatPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG4441, Eukaryota |
Ensembl GeneTree More...GeneTreei | ENSGT00940000157891 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | CLU_004253_14_2_1 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q9UH77 |
Identification of Orthologs from Complete Genome Data More...OMAi | EERWDQI |
Database of Orthologous Groups More...OrthoDBi | 635140at2759 |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q9UH77 |
TreeFam database of animal gene trees More...TreeFami | TF329218 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.120.10.80, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR011705, BACK IPR017096, BTB-kelch_protein IPR000210, BTB/POZ_dom IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR030578, KLHL3 IPR011333, SKP1/BTB/POZ_sf |
The PANTHER Classification System More...PANTHERi | PTHR24412:SF179, PTHR24412:SF179, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF07707, BACK, 1 hit PF00651, BTB, 1 hit PF01344, Kelch_1, 6 hits |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF037037, Kelch-like_protein_gigaxonin, 1 hit |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00875, BACK, 1 hit SM00225, BTB, 1 hit SM00612, Kelch, 6 hits |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF117281, SSF117281, 1 hit SSF54695, SSF54695, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Manual assertion based on opinion ini
- Ref.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.
This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
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
Manual assertion based on opinion ini
- Ref.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.
The sequence of this isoform differs from the canonical sequence as follows:
1-32: Missing.
10 20 30 40 50
MGKAFKVMNE LRSKQLLCDV MIVAEDVEIE AHRVVLAACS PYFCAMFTGD
60 70 80 90 100
MSESKAKKIE IKDVDGQTLS KLIDYIYTAE IEVTEENVQV LLPAASLLQL
110 120 130 140 150
MDVRQNCCDF LQSQLHPTNC LGIRAFADVH TCTDLLQQAN AYAEQHFPEV
160 170 180 190 200
MLGEEFLSLS LDQVCSLISS DKLTVSSEEK VFEAVISWIN YEKETRLEHM
210 220 230 240 250
AKLMEHVRLP LLPRDYLVQT VEEEALIKNN NTCKDFLIEA MKYHLLPLDQ
260 270 280 290 300
RLLIKNPRTK PRTPVSLPKV MIVVGGQAPK AIRSVECYDF EEDRWDQIAE
310 320 330 340 350
LPSRRCRAGV VFMAGHVYAV GGFNGSLRVR TVDVYDGVKD QWTSIASMQE
360 370 380 390 400
RRSTLGAAVL NDLLYAVGGF DGSTGLASVE AYSYKTNEWF FVAPMNTRRS
410 420 430 440 450
SVGVGVVEGK LYAVGGYDGA SRQCLSTVEQ YNPATNEWIY VADMSTRRSG
460 470 480 490 500
AGVGVLSGQL YATGGHDGPL VRKSVEVYDP GTNTWKQVAD MNMCRRNAGV
510 520 530 540 550
CAVNGLLYVV GGDDGSCNLA SVEYYNPVTD KWTLLPTNMS TGRSYAGVAV
IHKSL
Manual assertion based on opinion ini
- Ref.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.
The sequence of this isoform differs from the canonical sequence as follows:
1-82: Missing.
10 20 30 40 50
MSESKAKKIE IKDVDGQTLS KLIDYIYTAE IEVTEENVQV LLPAASLLQL
60 70 80 90 100
MDVRQNCCDF LQSQLHPTNC LGIRAFADVH TCTDLLQQAN AYAEQHFPEV
110 120 130 140 150
MLGEEFLSLS LDQVCSLISS DKLTVSSEEK VFEAVISWIN YEKETRLEHM
160 170 180 190 200
AKLMEHVRLP LLPRDYLVQT VEEEALIKNN NTCKDFLIEA MKYHLLPLDQ
210 220 230 240 250
RLLIKNPRTK PRTPVSLPKV MIVVGGQAPK AIRSVECYDF EEDRWDQIAE
260 270 280 290 300
LPSRRCRAGV VFMAGHVYAV GGFNGSLRVR TVDVYDGVKD QWTSIASMQE
310 320 330 340 350
RRSTLGAAVL NDLLYAVGGF DGSTGLASVE AYSYKTNEWF FVAPMNTRRS
360 370 380 390 400
SVGVGVVEGK LYAVGGYDGA SRQCLSTVEQ YNPATNEWIY VADMSTRRSG
410 420 430 440 450
AGVGVLSGQL YATGGHDGPL VRKSVEVYDP GTNTWKQVAD MNMCRRNAGV
460 470 480 490 500
CAVNGLLYVV GGDDGSCNLA SVEYYNPVTD KWTLLPTNMS TGRSYAGVAV
IHKSL
<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketEntry | Entry name | Protein names | Gene names | Length | Annotation | ||
---|---|---|---|---|---|---|---|
D6RH21 | D6RH21_HUMAN | Kelch-like protein 3 Kelch-like protein 3 | KLHL3 | 400 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> | ||
D6R9K4 | D6R9K4_HUMAN | Kelch-like protein 3 Kelch-like protein 3 | KLHL3 | 105 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> |
<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 227 | T → N in AAF20938 (PubMed:10843806).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067501 | 77 | A → E in PHA2D; impaired interaction with CUL3. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067502 | 78 | M → V in PHA2D; impaired interaction with CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067503 | 85 | E → A in PHA2D; impaired interaction with CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067504 | 164 | C → F in PHA2D; impaired interaction with CUL3; de novo mutation. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067505 | 228 | R → G in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067506 | 309 | Q → R in PHA2D; impaired interaction with WNK1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067507 | 322 | F → C in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067508 | 336 | R → I in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067509 | 340 | A → V in PHA2D; does not affect interaction with WNK1 or CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067510 | 361 | V → M in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067511 | 362 | R → W in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067512 | 384 | R → Q in PHA2D; impaired interaction with WNK1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067513 | 384 | R → W in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067514 | 387 | L → P in PHA2D; abolished interaction with WNK1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067515 | 398 | A → V in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067516 | 410 | S → L in PHA2D; impaired interaction with WNK1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067517 | 426 | P → L in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067518 | 427 | M → T in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067519 | 431 | R → Q in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067520 | 432 | S → N in PHA2D; impaired interaction with WNK1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067521 | 433 | S → G in PHA2D; decreased interaction with WNK4. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067522 | 433 | S → N in PHA2D. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067523 | 438 | V → I Found in a patient with hypertension; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067524 | 494 | A → T in PHA2D; does not affect interaction with WNK1 or CUL3. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079630 | 498 | H → Y in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067525 | 500 | G → V in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067526 | 501 | P → T in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067527 | 528 | R → C in PHA2D; impaired interaction with WNK1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067528 | 528 | R → H in PHA2D; dominant negative effect due to homodimer formation; impaired interaction with WNK1 and WNK4 and impaired ubiquitination of WNK4. 6 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067529 | 529 | N → K in PHA2D; impaired interaction with WNK1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_079631 | 553 | S → L in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067530 | 557 | Y → C in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_067531 | 575 | R → W in PHA2D. 1 Publication Manual assertion based on experiment ini
| 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002817 | 1 – 82 | Missing in isoform C. 1 Publication Manual assertion based on opinion ini
| 82 | |
Alternative sequenceiVSP_002816 | 1 – 32 | Missing in isoform B. 1 Publication Manual assertion based on opinion ini
| 32 |
Sequence databases
Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks 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 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS4192.1 [Q9UH77-1] CCDS58969.1 [Q9UH77-3] CCDS58970.1 [Q9UH77-2] |
NCBI Reference Sequences More...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] |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000309755; ENSP00000312397; ENSG00000146021 [Q9UH77-1] ENST00000506491; ENSP00000424828; ENSG00000146021 [Q9UH77-3] ENST00000508657; ENSP00000422099; ENSG00000146021 [Q9UH77-2] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 26249 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:26249 |
UCSC genome browser More...UCSCi | uc003lbr.6, human [Q9UH77-1] |
Keywords - Coding sequence diversityi
Alternative splicing<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
Protein | Similar proteins | Species | Score | Length | Source | |
---|---|---|---|---|---|---|
Q9UH77 | Kelch-like protein 3 | 587 | UniRef100_Q9UH77 | |||
Kelch-like protein 3 | 587 | |||||
Kelch-like protein 3 | 587 | |||||
Q9UH77-2 | Kelch-like protein 3 | 555 | UniRef100_Q9UH77-2 | |||
Kelch-like protein 3 | 601 | |||||
Isoform C of Kelch-like protein 3 | 505 | |||||
Kelch-like protein 3 | 505 | |||||
Kelch-like protein 3 | 505 | |||||
+1 |
Protein | Similar proteins | Species | Score | Length | Source | |
---|---|---|---|---|---|---|
Q9UH77 | Kelch-like protein 3 | 587 | UniRef90_Q9UH77 | |||
Kelch-like protein 3 | 587 | |||||
Kelch-like protein 3 | 587 | |||||
Kelch-like protein 3 | 640 | |||||
Kelch-like protein 3 | 628 | |||||
+242 |
Protein | Similar proteins | Species | Score | Length | Source | |
---|---|---|---|---|---|---|
Q9UH77 | Kelch-like protein 3 | 587 | UniRef50_Q9UH77 | |||
Kelch-like protein 3 | 587 | |||||
Kelch-like protein 3 | 587 | |||||
Kelch-like protein 3 | 587 | |||||
Kelch-like protein 3 | 587 | |||||
+639 |
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 |
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] |
3D structure databases
Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4CH9 | X-ray | 1.84 | A/B | 298-587 | [»] | |
4HXI | X-ray | 3.51 | A | 24-276 | [»] | |
5NKP | X-ray | 2.80 | A/B | 298-587 | [»] | |
SMRi | Q9UH77 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117637, 21 interactors |
CORUMi | Q9UH77 |
ELMi | Q9UH77 |
IntActi | Q9UH77, 14 interactors |
MINTi | Q9UH77 |
STRINGi | 9606.ENSP00000312397 |
PTM databases
iPTMneti | Q9UH77 |
PhosphoSitePlusi | Q9UH77 |
Genetic variation databases
BioMutai | KLHL3 |
DMDMi | 13431657 |
Proteomic databases
EPDi | Q9UH77 |
MassIVEi | Q9UH77 |
PaxDbi | Q9UH77 |
PeptideAtlasi | Q9UH77 |
PRIDEi | Q9UH77 |
ProteomicsDBi | 84282 [Q9UH77-1] 84283 [Q9UH77-2] 84284 [Q9UH77-3] |
Protocols and materials databases
Antibodypedia a portal for validated antibodies More...Antibodypediai | 14776, 251 antibodies |
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.6, human [Q9UH77-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 26249 |
DisGeNETi | 26249 |
GeneCards: human genes, protein and diseases More...GeneCardsi | KLHL3 |
GeneReviewsi | KLHL3 |
HGNCi | HGNC:6354, KLHL3 |
HPAi | ENSG00000146021, Tissue enriched (brain) |
MalaCardsi | KLHL3 |
MIMi | 605775, gene 614495, phenotype |
neXtProti | NX_Q9UH77 |
OpenTargetsi | ENSG00000146021 |
Orphaneti | 300525, Pseudohypoaldosteronism type 2D |
PharmGKBi | PA30144 |
VEuPathDBi | HostDB:ENSG00000146021.14 |
Human Unidentified Gene-Encoded large proteins database More...HUGEi | Search... |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4441, Eukaryota |
GeneTreei | ENSGT00940000157891 |
HOGENOMi | CLU_004253_14_2_1 |
InParanoidi | Q9UH77 |
OMAi | EERWDQI |
OrthoDBi | 635140at2759 |
PhylomeDBi | Q9UH77 |
TreeFami | TF329218 |
Enzyme and pathway databases
UniPathwayi | UPA00143 |
PathwayCommonsi | Q9UH77 |
Reactomei | R-HSA-8951664, Neddylation R-HSA-983168, Antigen processing: Ubiquitination & Proteasome degradation |
Miscellaneous databases
BioGRID ORCS database of CRISPR phenotype screens More...BioGRID-ORCSi | 26249, 9 hits in 871 CRISPR screens |
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | KLHL3, human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | KLHL3 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 26249 |
Pharosi | Q9UH77, Tbio |
Protein Ontology More...PROi | PR:Q9UH77 |
RNActi | Q9UH77, protein |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000146021, Expressed in cerebellar vermis and 213 other tissues |
ExpressionAtlasi | Q9UH77, baseline and differential |
Genevisiblei | Q9UH77, HS |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit |
InterProi | View protein in InterPro IPR011705, BACK IPR017096, BTB-kelch_protein IPR000210, BTB/POZ_dom IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR030578, KLHL3 IPR011333, SKP1/BTB/POZ_sf |
PANTHERi | PTHR24412:SF179, PTHR24412:SF179, 1 hit |
Pfami | View protein in Pfam PF07707, BACK, 1 hit PF00651, BTB, 1 hit PF01344, Kelch_1, 6 hits |
PIRSFi | PIRSF037037, Kelch-like_protein_gigaxonin, 1 hit |
SMARTi | View protein in SMART SM00875, BACK, 1 hit SM00225, BTB, 1 hit SM00612, Kelch, 6 hits |
SUPFAMi | SSF117281, SSF117281, 1 hit SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | KLHL3_HUMAN | |
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | Q9UH77Primary (citable) accession number: Q9UH77 Secondary accession number(s): B2RBK7 , Q9UH75, Q9UH76, Q9ULU0, Q9Y6V6 | |
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | April 27, 2001 | |
Last modified: | February 10, 2021 | |
This is version 175 of the entry and version 2 of the sequence. See complete history. | ||
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references