Cell Biology Antibodies 7
Anti-RPGR Antibody (CAB1844)
- SKU:
- CAB1844
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-RPGR Antibody |
Antibody SKU: | CAB1844 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-260 of human RPGR (NP_001030025.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse |
Positive Samples: | Y79, Mouse heart |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-260 of human RPGR (NP_001030025.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MREP EELM PDSG AVFT FGKS KFAE NNPG KFWF KNDV PVHL SCGD EHSA VVTG NNKL YMFG SNNW GQLG LGSK SAIS KPTC VKAL KPEK VKLA ACGR NHTL VSTE GGNV YATG GNNE GQLG LGDT EERN TFHV ISFF TSEH KIKQ LSAG SNTS AALT EDGR LFMW GDNS EGQI GLKN VSNV CVPQ QVTI GKPV SWIS CGYY HSAF VTTD GELY VFGE PENG KLGL PNQL LGNH RTPQ LVSE IPEK VIQV ACGG EHTV VLTE |
Gene ID: | 6103 |
Uniprot: | Q92834 |
Cellular Location: | Cytoplasm, Golgi apparatus, centrosome, cilium axoneme, cilium basal body, cytoskeleton, flagellum axoneme, microtubule organizing center |
Calculated MW: | 52kDa/70kDa/83kDa/90kDa/113kDa/127kDa |
Observed MW: | 85kDa |
Synonyms: | RPGR, COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15 |
Background: | 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. |
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 |
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