Rabbit anti-Human RPGRIP1 Polyclonal Antibody | anti-RPGRIP1 antibody

RPGRIP1, ID (X-linked Retinitis Pigmentosa GTPase Regulator-interacting Protein 1, RPGR-interacting Protein 1) (Biotin)

Cat. Num. AAA6498211

• Gene Names: RPGRIP1; LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Purified by Immunoaffinity chromatography.
• Synonyms: RPGRIP1; Polyclonal Antibody; ID (X-linked Retinitis Pigmentosa GTPase Regulator-interacting Protein 1; RPGR-interacting Protein 1) (Biotin); anti-RPGRIP1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human RPGRIP1.
• Purity/Purification: Purified by Immunoaffinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-RPGRIP1 antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-1:500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the center region of human RPGRIP1 (KLH).
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western blot analysis of RPGRIP1 Antibody (Center) in HL-60, K562, MDA-MB435, Jurkat cell line lysates (35ug/lane). RPGRIP1 (arrow) was detected using the purified Pab.)

Immunohistochemistry (IHC)

(Formalin-fixed and paraffin-embedded human breast carcinoma reacted with RPGRIP1 Antibody (Center), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.)

Flow Cytometry (FC/FACS)

(RPGRIP1 Antibody (Center) flow cytometry analysis of MDA-MB231 cells (bottom histogram) compared to a negative control cell (top histogram). FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Product Categories/Family for anti-RPGRIP1 antibody

Antibodies; GTPase; Rab; Ras; Rho Proteins

References

1. Arts, H.H., et.al., Nat. Genet. 39(7), 882-888 (2007).

NCBI and Uniprot Product Information

• NCBI GI #: 112734867
• NCBI GeneID: 57096
• NCBI Accession #: NP_065099.3
• NCBI GenBank Nucleotide #: NM_020366.3
• UniProt Accession #: Q96KN7; Q7Z2W6; Q8IXV5; Q96QA8; Q9HB94; Q9HB95; Q9HBK6; Q9NR40
• Molecular Weight: 146,682 Da
• NCBI Official Full Name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
• NCBI Official Synonym Full Names: retinitis pigmentosa GTPase regulator interacting protein 1
• NCBI Official Symbol: RPGRIP1
• NCBI Official Synonym Symbols: LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d
• NCBI Protein Information: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; RPGR-interacting protein 1
• UniProt Protein Name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
• Protein Family: X-linked retinitis pigmentosa GTPase regulator-interacting protein
• UniProt Gene Name: RPGRIP1
• UniProt Synonym Gene Names: RPGR-interacting protein 1
• UniProt Entry Name: RPGR1_HUMAN

NCBI Description

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

Uniprot Description

RPGRIP1: Essential for RPGR function and is also required for normal disk morphogenesis. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in RPGRIP1 are the cause of cone-rod dystrophy type 13 (CORD13). An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Belongs to the RPGRIP1 family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 14q11

Cellular Component: axoneme; photoreceptor connecting cilium

Molecular Function: protein binding

Biological Process: eye photoreceptor cell development; visual perception; retina development in camera-type eye; response to stimulus

Disease: Leber Congenital Amaurosis 6; Cone-rod Dystrophy 13