RPGR Antibody, FITC conjugated (PACO38668)
- SKU:
- PACO38668
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- FITC
Frequently bought together:
Description
抗体名: | RPGR Antibody, FITC conjugated (PACO38668) |
抗体コード: | PACO38668 |
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 X-linked retinitis pigmentosa GTPase regulator protein (1-180AA) |
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: | FITC |
バックグラウンド: | Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia. |
シノニム: | X-linked retinitis pigmentosa GTPase regulator, RPGR, RP3 XLRP3 |
UniProt Protein Function: | RPGR: a guanine nucleotide exchange factor (GEF) that plays a role in cilia biogenesis and maintenance. Interacts with the GDP-bound form of the small GTPase RAB8A. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes May be involved in microtubule organization and regulation of transport in primary cilia. Interacts with PDE6D, RPGRIP1, CEP290, and DFNB31. Defects in RPGR are the cause of retinitis pigmentosa (RP3, RP15, and RPDSI), cone-rod dystrophy, X-linked 1 (CORDX1), and macular degeneration, X-linked, atrophic (MDXLA). Six isoforms of the human protein are produced by alternative splicing. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments. Isoform 6 associates with microtubule organizing centers, cilium basal bodies, and cilium axonemes. Interacts with NPM1 (via C-terminus), RPGRIP1L, SMC1A and SMC3. |
UniProt Protein Details: | Protein type:GEFs; GEFs, Rab Chromosomal Location of Human Ortholog: Xp21.1 Cellular Component: Golgi apparatus; centrosome; photoreceptor outer segment Molecular Function:protein binding; guanyl-nucleotide exchange factor activity Biological Process: intracellular protein transport; eye photoreceptor cell development; visual perception; response to stimulus; intraflagellar transport; cilium biogenesis; positive regulation of GTPase activity Disease: Retinitis Pigmentosa, X-linked, And Sinorespiratory Infections, With Or Without Deafness; Cone-rod Dystrophy, X-linked, 1; Macular Degeneration, X-linked Atrophic; Retinitis Pigmentosa 3 |
NCBI Summary: | This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008] |
UniProt Code: | Q92834 |
NCBI GenInfo Identifier: | 23503098 |
NCBI Gene ID: | 6103 |
NCBI Accession: | Q92834.2 |
UniProt Secondary Accession: | Q92834,O00702, O00737, Q3KN84, Q8N5T6, Q93039, Q9HD29 Q9UMR1, B1ARN3, E9PE28, |
UniProt Related Accession: | Q92834 |
Molecular Weight: | 1020 |
NCBI Full Name: | X-linked retinitis pigmentosa GTPase regulator |
NCBI Synonym Full Names: | retinitis pigmentosa GTPase regulator |
NCBI Official Symbol: | RPGR |
NCBI Official Synonym Symbols: | CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1 |
NCBI Protein Information: | X-linked retinitis pigmentosa GTPase regulator; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator |
UniProt Protein Name: | X-linked retinitis pigmentosa GTPase regulator |
Protein Family: | X-linked retinitis pigmentosa GTPase regulator |
UniProt Gene Name: | RPGR |
UniProt Entry Name: | RPGR_HUMAN |