Product Details

Uniprot No.

Target Names

RPGRIP1L

Alternative Names

CORS 3 antibody; CORS3 antibody; Fantom antibody; FTM antibody; FTM_HUMAN antibody; JBTS 1 antibody; JBTS 7 antibody; JBTS1 antibody; JBTS7 antibody; Joubert syndrome 1 antibody; Joubert syndrome 7 antibody; Meckel syndrome; type 1 antibody; Meckel syndrome; type 5 antibody; MKS 5 antibody; MKS5 antibody; Nephrocystin-8 antibody; NPHP 8 antibody; NPHP8 antibody; Protein fantom antibody; Retinitis pigmentosa GTPase regulator interacting protein 1 like antibody; RPGR interacting protein 1 like protein antibody; RPGR-interacting protein 1-like protein antibody; RPGRIP1 like protein antibody; RPGRIP1-like protein antibody; Rpgrip1l antibody

Raised in

Rabbit

Species Reactivity

Human

Immunogen

Human RPGRIP1L

Immunogen Species

Homo sapiens (Human)

Isotype

IgG

Purification Method

Antigen Affinity purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.

Tested Applications

ELISA,WB

Protocols

ELISA Protocol
Western Blotting(WB) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Background

Function

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins. Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2.

Gene References into Functions

we didn't found the significant association between RPGRIP1L and BMI in Chinese women PMID: 29657248
our studies revealed RPGRIP1L as a novel MyoVa-binding protein - the first to be demonstrated to interact with MyoVa at the centrosome - and uncover an unprecedented link between MyoVa and ciliogenesis, providing new perspectives for studies aiming to better understand why defects in MyoVa cause neurological disorders in Griscelli syndrome patients. PMID: 28266547
Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
KIAA1005 (rs3213758)is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. PMID: 23678272
All Spanish families with Alstrom syndrome were homozygous for 229A allele of RPGRIP1L, with the exception of a p.A229T heterozygous patient. PMID: 22876109
First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia. PMID: 22425971
Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. PMID: 22183348
Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly. PMID: 21685204
Insulin was identified as a key factor regulating FTM expression during human preadipocyte differentiation. PMID: 20865646
CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4. PMID: 20519441
RPGRIP1L interacts with retinitis pigmentosa GTPase, loss of which causes retinal degeneration. PMID: 19430481
Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. PMID: 19574260
Responsible for Joubert syndrome, affecting cilia and basal bodies. PMID: 17558407
Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome. PMID: 17558409
T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of Joubert syndrome type B patients negative for NPHP1, NPHP6, or AHI1 mutations PMID: 17960139
Discuss Fto/Ftm gene expression regulation via CUTL1. PMID: 18256137
Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies. Review. PMID: 18281315
RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%). PMID: 18565097
data suggest that RPGRIP1L suppresses anchorage-independent growth partly through the mitotic checkpoint protein Mad2. PMID: 19410446

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Involvement in disease

Joubert syndrome 7 (JBTS7); Meckel syndrome 5 (MKS5); COACH syndrome (COACHS)

Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction.

Protein Families

RPGRIP1 family

Tissue Specificity

Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney.

Database Links

HGNC: 29168

OMIM: 216360

KEGG: hsa:23322

STRING: 9606.ENSP00000369257

UniGene: Hs.298382