KLHL3 Antibody, Biotin conjugated (PACO47221)
- SKU:
- PACO47221
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Frequently bought together:
Description
抗体名: | KLHL3 Antibody, Biotin conjugated (PACO47221) |
抗体コード: | PACO47221 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human Kelch-like protein 3 protein (1-301AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Biotin |
バックグラウンド: | 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. |
シノニム: | Kelch-like protein 3, KLHL3, KIAA1129 |
UniProt Protein Function: | KLHL3: 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 may act by mediating ubiquitination of SLC12A3/NCC, thereby regulating SLC12A3/NCC subcellular location at the cell membrane. Defects in KLHL3 are the cause of Pseudohypoaldosteronism type 2D (PHA2D). A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive. 3 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Cytoskeletal; Actin-binding Chromosomal Location of Human Ortholog: 5q31 Cellular Component: cytosol Molecular Function:protein binding; structural molecule activity; ubiquitin-protein ligase activity Biological Process: ion homeostasis; protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process Disease: Pseudohypoaldosteronism, Type Iid |
NCBI Summary: | This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] |
UniProt Code: | Q9UH77 |
NCBI GenInfo Identifier: | 13431657 |
NCBI Gene ID: | 26249 |
NCBI Accession: | Q9UH77.2 |
UniProt Secondary Accession: | Q9UH77,Q9UH75, Q9UH76, Q9ULU0, Q9Y6V6, B2RBK7, |
UniProt Related Accession: | Q9UH77 |
Molecular Weight: | 55,927 Da |
NCBI Full Name: | Kelch-like protein 3 |
NCBI Synonym Full Names: | kelch like family member 3 |
NCBI Official Symbol: | KLHL3 |
NCBI Official Synonym Symbols: | PHA2D |
NCBI Protein Information: | kelch-like protein 3 |
UniProt Protein Name: | Kelch-like protein 3 |
Protein Family: | Kelch-like protein |
UniProt Gene Name: | KLHL3 |
UniProt Entry Name: | KLHL3_HUMAN |