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Aliases & Descriptions for RPGRIP1L gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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User Feedback Aliases & Descriptions RPGRIP1-like1 2 FTM1 3 KIAA10051 2 3 5 RPGR-interacting protein 1-like protein2 3 MKS51 2 5 RPGRIP1-like protein2 3 JBTS71 2 5 DKFZp686C06682 NPHP81 2 protein fantom2 CORS31 2 nephrocystin 82
Search outside databases for aliases for RPGRIP1L genePrevious GC identifer: GC16M052193
Summaries for RPGRIP1L gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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User Feedback Entrez Gene summary for RPGRIP1L : The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq) UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1 Function : Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor. May be involved inmechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity)
Genomic Views for RPGRIP1L gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl (release 56) ,
Regulatory elements and Epigenetics data according to
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User Feedback Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for RPGRIP1L Epigenetics: SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for RPGRIP1L: MePH20670-2A Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16q12.2 Ensembl cytogenetic band: 16q12.2 HGNC cytogenetic band: 16q12.2 RPGRIP1L Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M053633: view genomic region
(about GC identifiers )
Start:
53,633,818 bp from pter
End:
53,737,771 bp from pter
Size:
103,954 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000016.9 NT_010498.15 Proteins for RPGRIP1L gene
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Sino Biological ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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User Feedback UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1 (See
protein sequence )Recommended Name: Protein fantom Size : 1315 amino acids; 151204 Da
Subunit : Interacts with NPHP4. Interacts with TBXA2R (via C-terminus)
Subcellular location : Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.Cytoplasm, cytoskeleton, centrosome
PDB structures from and Proteopedia : 2YRB (3D)
 
Secondary accessions : A0PJ88 Q9Y2K8Alternative splicing : 2 isoforms : Q68CZ1-1 Q68CZ1-2
REFSEQ proteins (2 alternative transcripts):
NP_001121369.1 NP_056087.2 ENSEMBL proteins: ENSP00000262135 ENSP00000369257 Human Recombinant Proteins 5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6
):
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RPGRIP1L for ontologies About GeneDecksing Antibodies for RPGRIP1L: Assays for RPGRIP1L:
Protein
Domains/ Families for RPGRIP1L gene(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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RPGRIP1L for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q68CZ1 ProtoNet protein and cluster: Q68CZ1
1 Blocks protein family : IPB000008 C2 domain UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1 Similarity : Belongs to the RPGRIP1 familySimilarity : Contains 2 C2 domains
Gene Function for RPGRIP1L gene
(According to MGI May 08 2010, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Millipore ,
Abnova ,
siRNAs from
Applied Biosystems ,
Sigma-Aldrich , Clones from
Millipore ,
Sigma-Aldrich ,
OriGene ,
Sino Biological ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene .)
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User Feedback UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1 Function : Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor. May be involved inmechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity)
1 Gene Ontology (GO) molecular function term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0031870 thromboxane A2 receptor binding
IPI 19464661
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RPGRIP1L for ontologies About GeneDecksing Animal Models: 13 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Rpgrip1l) :
RPGRIP1L for phenotypes About GeneDecksing Pathways & Interactions for RPGRIP1L gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
Applied Biosystems GeneAssist ,
KEGG
and/or UniProtKB ,
(map by GeneGo ),
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene) .
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User Feedback SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPGRIP1L 5/21 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 21
):
GO ID Qualified GO term Evidence PubMed IDs GO:0001701 in utero embryonic development
IEA -- GO:0001822 kidney development
IEA -- GO:0001889 liver development
IEA -- GO:0007368 determination of left/right symmetry
IEA -- GO:0007382 specification of segmental identity, maxillary segment
IEA --
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RPGRIP1L for ontologies About GeneDecksing
Drugs & Compounds for RPGRIP1L gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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User Feedback Browse Tocris compounds for RPGRIP1L
Transcripts for RPGRIP1L gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
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User Feedback Assays: Applied Biosystems TaqMan® Gene Expression Assays: NM_001127897 NM_015272 Primers: Origene genome-wide validated SYBR primer pairs: RPGRIP1L SABiosciences RT2 qPCR Primer Assay for RPGRIP1L: PPH14178A
REFSEQ mRNAs for RPGRIP1L gene (2 alternative transcripts): NM_001127897.1 NM_015272.2
Additional cDNA sequence: AB023222.1 AK026552.1 AK093307.1 AK096333.1 AK304790.1 AK307929.1 AK308390.1 BC017977.1 BC136433.1 CR749645.1 EF565106.1
9 DOTS entries : DT.40222015 DT.120663429 DT.97813574 DT.40128747 DT.40305901 DT.99927936 DT.120663412 DT.92414943
DT.75152024 24/58 AceView cDNA sequences (see all 58
):
AB023222 BF515597 AA773007 BX498770 AA219208 AA313221 BM718521 AI089497 AI254247 BC017977 AA295698 F11320 AA694125 BU179018 AA988416 BM683568 CD674885 F08981 AW268455 BX089693 CA313857 CN478693 AI377913 AI692900 Unigene Cluster for RPGRIP1L:
RPGRIP1-like Hs.298382 [show with all ESTs ] Unigene Representative Sequence: NM_015272 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for RPGRIP1L ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · SP1 :             -                       -           -   -       SP2 :                                             -   -       SP3 :                                                     SP4 :                                                    
ExUns: 24b · 24c SP1 :     SP2 :     SP3 :     SP4 :    
About this scheme ECgene alternative splicing isoforms for RPGRIP1L 2 Ensembl transcripts including schematic representations : ENST00000262135
ENST00000379925
Expression for RPGRIP1L gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 223 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems ,
Primers from
OriGene and/or
SABiosciences
)
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User Feedback RPGRIP1L expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for RPGRIP1L 1 / 2
3 probe-sets matching RPGRIP1L gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
37773_at2
U95-A
1
0.75
1.00
1.00
1.00
--
--
--
--
--
213959_s_at2
U133-A
1
0.73
1.00
--
--
--
--
--
--
--
213959_s_at2
U133Plus2
1
0.73
1.00
--
--
--
--
--
--
--
About this table
RPGRIP1L for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.298382 UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1 Tissue specificity : Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. Duringearly development, expressed in multiple organs including brain, eye, forelimbs and kidneys
Primers: Origene genome-wide validated SYBR primer pairs: RPGRIP1L SABiosciences RT2 qPCR Primer Assay for RPGRIP1L: PPH14178A
Orthologs for RPGRIP1L gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for RPGRIP1L gene from 5/10 species (see all 10
)
About this table Species with no ortholog for RPGRIP1L ENSEMBL Gene Tree for RPGRIP1L Paralogs for RPGRIP1L gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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User Feedback Paralogs for RPGRIP1L gene RPGRIP1 2
RPGRIP1L for paralogs About GeneDecksing
Genomic Variants for RPGRIP1L gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for RPGRIP1L (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for RPGRIP1L 1 CNV : 102285
Disorders & Mutations for RPGRIP1L gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
BCGD,
and/or TGDB .)
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RPGRIP1L for disorders About GeneDecksing
OMIM: 610937 disorders : 611560 611561 UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1
Defects in RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7) [MIM:611560]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease Defects in RPGRIP1L are the cause of Meckel syndrome type 5 (MKS5) [MIM:611561]. MKS is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly
10/14 Novoseek disease relationships for RPGRIP1L gene (see all 14
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
joubert syndrome
31.05
9
17960139 (3), 17558407 (3), 19778711 (1), 19574260 (1) (see all 5 )
nphp1
15.10
5
17960139 (2), 19778711 (1), 18054307 (1), 17558409 (1)
meckel syndrome
12.96
4
19430481 (1), 19058225 (1), 18565097 (1), 17558409 (1)
coach syndrome
8.50
2
19574260 (2)
nphp4
8.09
2
17558409 (1), 17558407 (1)
degeneration retinal
6.74
3
19430481 (3)
congenital hepatic fibrosis
5.85
2
19574260 (1), 19058225 (1)
lca
2.51
1
17558407 (1)
coloboma
2.48
1
19574260 (1)
pigmentosa; retinitis
1.75
1
19430481 (1)
About this table GeneTests: RPGRIP1L Joubert Syndrome Human Gene Mutation Database : RPGRIP1L Human Genome Epidemiology Navigator: RPGRIP1L (4 documents)
Medical News for RPGRIP1L gene (Possibly Related Articles in
Doctor's Guide )
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User Feedback --
Publications for RPGRIP1L gene (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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User Feedback 10/23 PubMed articles for RPGRIP1L gene (see all 23
): Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032) 2, 3 , 4 Nagase T....Ohara O. (1999) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (PubMed id 17558409) 1, 3 , 4 Delous M....Saunier S. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. (PubMed id 17558407) 1, 3 , 4 Arts H.H.... Roepman R. (2007) Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor. (PubMed id 19464661) 3 , 4 Tokue S.... Nakahata N. (2009) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. (PubMed id 17960139) 1, 3 Wolf M.T....Hildebrandt F. (2007) Regulation of Fto/Ftm gene expression in mice and humans. (PubMed id 18256137) 1, 3 Stratigopoulos G....Leibel R.L. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (PubMed id 18565097) 1, 3 Brancati F....Valente E. (2008) Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample. (PubMed id 19844207) 3 Riley B....Kendler K.S. (2010) Nephronophthisis. (PubMed id 19066617) 3 Simms R.J....Sayer J.A. (2009) Association analysis of type 2 diabetes Loci in type 1 diabetes. (PubMed id 18426861) 3 Qu H.Q....Polychronakos C. (2008)
Search for RPGRIP1L gene
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Genome Databases showing RPGRIP1L gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing RPGRIP1L gene
(According to HUGE )
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Specialized Databases showing RPGRIP1L gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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User Feedback Patent Information for RPGRIP1L gene: Search GeneIP for patents involving RPGRIP1L GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search Services for RPGRIP1L gene (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Novus Biologicals ,Epitomics , Sigma-Aldrich , R&D Systems , SABiosciences , Millipore , Abnova , Clones available from OriGene , Sigma-Aldrich , Sino Biological , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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