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RPGRIP1L Gene

protein-coding   GIFtS: 52
GCID: GC16M053633

RPGRIP1-Like

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RPGRIP1-like1 2     Meckel Syndrome1
Fantom Homolog1 2     Type 51
FTM2 3     CORS32
NPHP82 3     nephrocystin-82
RPGR-Interacting Protein 1-Like Protein2 3     Protein Fantom2
JBTS72 5     Nephrocystin-83
MKS52 5     RPGRIP1-Like Protein3
KIAA10053 5     

External Ids:    HGNC: 291681   Entrez Gene: 233222   Ensembl: ENSG000001034947   OMIM: 6109375   UniProtKB: Q68CZ13   

Export aliases for RPGRIP1L gene to outside databases

Previous GC identifers: GC16M052193 GC16M039520


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPGRIP1L Gene:
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, Jul 2008)

GeneCards Summary for RPGRIP1L Gene:
RPGRIP1L (RPGRIP1-like) is a protein-coding gene. Diseases associated with RPGRIP1L include meckel syndrome 5, and rpgrip1l-related meckel syndrome. GO annotations related to this gene include thromboxane A2 receptor binding. An important paralog of this gene is RPGRIP1.

UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1
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 (By similarity). Involved in the organization of apical junctions in kidney
cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPGRIP1L gene promoter:
         C/EBPbeta   Egr-1   NF-AT   AREB6   FAC1   NF-AT2   NF-AT3   FOXO1a   FOXO1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPGRIP1L promoter sequence
   Search Chromatin IP Primers for RPGRIP1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPGRIP1L


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)
RPGRIP1L gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M053633:  view genomic region     (about GC identifiers)

Start:
53,631,595 bp from pter      End:
53,737,850 bp from pter
Size:
106,256 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1 (See protein sequence)
Recommended Name: Protein fantom  
Size: 1315 amino acids; 151201 Da
Subunit: Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8. Interacts with TBXA2R (via
C-terminus). Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGR
1 PDB 3D structure from and Proteopedia for RPGRIP1L:
2YRB (3D)    
Secondary accessions: A0PJ88 Q9Y2K8
Alternative splicing: 2 isoforms:  Q68CZ1-1   Q68CZ1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RPGRIP1L: NX_Q68CZ1

Explore proteomics data for RPGRIP1L at MOPED


See RPGRIP1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001121369.1  NP_056087.2  

ENSEMBL proteins: 
 ENSP00000262135   ENSP00000369257   ENSP00000457889   ENSP00000456534   ENSP00000455295  
 ENSP00000459817   ENSP00000455451   ENSP00000458705   ENSP00000463678  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR021656 DUF3250
 IPR000008 C2_dom

Graphical View of Domain Structure for InterPro Entry Q68CZ1

ProtoNet protein and cluster: Q68CZ1

1 Blocks protein domain: IPB000008 C2 domain

UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1
Similarity: Belongs to the RPGRIP1 family
Similarity: Contains 2 C2 domains


RPGRIP1L for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: FTM_HUMAN, Q68CZ1
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 (By similarity). Involved in the organization of apical junctions in kidney
cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By
similarity)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI19430481
GO:0031870thromboxane A2 receptor binding IPI19464661
     
RPGRIP1L for ontologies           About GeneDecksing


Phenotypes:
     15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rpgrip1l):
 cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
 growth/size/body  integument  limbs/digits/tail  liver/biliary system  mortality/aging 
 nervous system  renal/urinary system  respiratory system  skeleton  vision/eye 

RPGRIP1L for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Rpgrip1ltm1Urt for RPGRIP1L

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPGRIP1L
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPGRIP1L
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPGRIP1L

miRNA
Products:
    
miRTarBase miRNAs that target RPGRIP1L:
hsa-mir-375 (MIRT019863), hsa-mir-1229-3p (MIRT036318), hsa-mir-192-5p (MIRT026488)

Block miRNA regulation of human, mouse, rat RPGRIP1L using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate RPGRIP1L (see all 75):
hsa-miR-548j hsa-miR-128 hsa-miR-3074-3p hsa-miR-3653 hsa-miR-4275 hsa-miR-548a-5p hsa-miR-4293 hsa-miR-509-3-5p
SwitchGear 3'UTR luciferase reporter plasmidRPGRIP1L 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat RPGRIP1L

Gene Editing
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OriGene clones in human, mouse for RPGRIP1L (see all 13)
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GenScript: all cDNA clones in your preferred vector (see all 2): RPGRIP1L (NM_015272)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPGRIP1L
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPGRIP1L

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGRIP1L


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
FTM_HUMAN, Q68CZ1: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium
axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction.
Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it
accumulates to basolateral tight junctions
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton5
cytosol2
nucleus2

Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA17558409
GO:0005813centrosome IDA17558409
GO:0005911cell-cell junction IDA--
GO:0005923tight junction IEA--
GO:0005929cilium IDA17558409

RPGRIP1L for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathway & Disease-focused RT2 Profiler PCR Array including RPGRIP1L: 
          Primary Cilia in human mouse rat

Interactions:

    GeneGlobe Interaction Network for RPGRIP1L

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for RPGRIP1L (ENSP000003692574) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
InteractantInteraction Details
GeneCardExternal ID(s)
PPP1CAENSP000003260314STRING: ENSP00000326031
ACAA2ENSP000002850934STRING: ENSP00000285093
ATXN10ENSP000002529344STRING: ENSP00000252934
CSN1S1ENSP000002468914STRING: ENSP00000246891
ENO1ENSP000002345904STRING: ENSP00000234590
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Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001701in utero embryonic development IEA--
GO:0001822kidney development IEA--
GO:0001889liver development IEA--
GO:0007163establishment or maintenance of cell polarity IEA--
GO:0007368determination of left/right symmetry IEA--

RPGRIP1L for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RPGRIP1L (FTM)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for RPGRIP1L gene (2 alternative transcripts): 
NM_001127897.1  NM_015272.2  

Unigene Cluster for RPGRIP1L:

RPGRIP1-like
Hs.298382  [show with all ESTs]
Unigene Representative Sequence: NM_015272
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000262135(uc002ehp.3 uc002eho.4 uc010vgy.2 uc010cbx.3)
ENST00000379925 ENST00000563746 ENST00000564374(uc010vgz.1 uc002ehq.1)
ENST00000568009 ENST00000565343 ENST00000562230 ENST00000562588 ENST00000568653(uc010cby.1)
ENST00000566096 ENST00000569716
miRNA
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Block miRNA regulation of human, mouse, rat RPGRIP1L using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate RPGRIP1L (see all 75):
hsa-miR-548j hsa-miR-128 hsa-miR-3074-3p hsa-miR-3653 hsa-miR-4275 hsa-miR-548a-5p hsa-miR-4293 hsa-miR-509-3-5p
SwitchGear 3'UTR luciferase reporter plasmidRPGRIP1L 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for RPGRIP1L
Predesigned siRNA for gene silencing in human, mouse, rat RPGRIP1L
Clone
Products:
     
OriGene clones in human, mouse for RPGRIP1L (see all 13)
OriGene ORF clones in mouse, rat for RPGRIP1L
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): RPGRIP1L (NM_015272)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPGRIP1L
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPGRIP1L
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for RPGRIP1L
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPGRIP1L
  QuantiTect SYBR Green Assays in human, mouse, rat RPGRIP1L
  QuantiFast Probe-based Assays in human, mouse, rat RPGRIP1L

Additional mRNA 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.99927936  DT.120663412  DT.92414943  DT.40305901 
DT.75152024 

Selected AceView cDNA sequences (see all 58):

AB023222 AA313221 BM718521 AI089497 BF515597 BU179018 AA773007 AA219208 
BC017977 CA313857 BM683568 AW268455 BX498770 F11320 BX089693 AI254247 
CD674885 F08981 AA988416 CN478693 AA295698 AA694125 BX101610 AW072446 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for RPGRIP1L    About this scheme

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:            


ECgene alternative splicing isoforms for RPGRIP1L

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RPGRIP1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
RPGRIP1L Expression
About this image

RPGRIP1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RPGRIP1L Protein Expression

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.
During early development, expressed in multiple organs including brain, eye, forelimb and kidney

    Pathway & Disease-focused RT2 Profiler PCR Array including RPGRIP1L: 
          Primary Cilia in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for RPGRIP1L
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPGRIP1L
QuantiTect SYBR Green Assays in human, mouse, rat RPGRIP1L
QuantiFast Probe-based Assays in human, mouse, rat RPGRIP1L
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGRIP1L

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for RPGRIP1L gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rpgrip1l1 , 5 Rpgrip1-like1, 5 85.43(n)1
85.43(a)1
  8 (44.29 cM)5
2445851  NM_173431.21  NP_775607.21 
 912170305 
chicken
(Gallus gallus)
Aves RPGRIP1L1 RPGRIP1-like 69.22(n)
60.14(a)
  425392  XM_004944173.1  XP_004944230.1 
lizard
(Anolis carolinensis)
Reptilia RPGRIP1L6
RPGRIP1-like
64(a)
1 ↔ 1
LGc(499559-569283)
African clawed frog
(Xenopus laevis)
Amphibia Xl.311712 Xenopus laevis transcribed sequences 78.31(n)    48014143 
zebrafish
(Danio rerio)
Actinopterygii rpgrip1l1 RPGRIP1-like 58.03(n)
53.43(a)
  557688  NM_001246660.1  NP_001233589.1 
worm
(Caenorhabditis elegans)
Secernentea mks-56
Protein MKS-5, isoform a (mks-5) mRNA, complete cd...
16(a)
1 → many
II(10720231-10729252) WBGene00007490


ENSEMBL Gene Tree for RPGRIP1L (if available)
TreeFam Gene Tree for RPGRIP1L (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RPGRIP1L gene
RPGRIP12  
Selected SIMAP similar genes for RPGRIP1L using alignment to 9 protein entries:     FTM_HUMAN (see all proteins) (see all similar genes):
SUMO1    ARL6IP5    KIAA1651    pp12301    VPS33A    CDK10
HC6    SH2B3    COQ5    C1orf143    ARIH1    NLN
DOCK8    DPP9    TBCB    NLRC5    PFKFB3    ZNF799

RPGRIP1L for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RPGRIP1L (see all 1927)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1513329231,2,,4
C,FMeckel syndrome 5 (MKS5)4 --54652695(+) GAAGCG/AAAGGC 4 /R /C mis12Minor allele frequency- A:0.00NA EU 5875
VAR_0692344
Joubert syndrome 7 (JBTS7)4--see VAR_0692342 Q R mis40--------
VAR_0638054
COACH syndrome (COACHS)4--see VAR_0638052 S P mis40--------
rs1219182031,2
Cpathogenic154692828(-) ATACCC/TAGGAG 4 Q * stg10--------
rs1456651291,2
Cpathogenic154693029(+) TGCTCG/AGGACT 4 /R /* stg11Minor allele frequency- A:0.00NA 4552
rs1219182041,2
Cpathogenic154699771(-) TCCACC/TAGGCT 4 Q * stg10--------
rs1219181991,2
Cpathogenic154733588(-) GAGAAC/TAGCAA 4 Q * stg11Minor allele frequency- T:0.00EU 1307
rs1219181971,2
Cpathogenic154733648(-) TCCTGA/TAAACT 4 K * stg10--------
rs617470711,2,,4
C,Fpathogenic154733660(+) CTCAGC/TCAAGT 4 T A mis17Minor allele frequency- T:0.06NS NA CSA WA EU 6169
rs80514641,2
C--39536506(+) TATATA/TTTTTT 2 -- int11Minor allele frequency- T:0.00NA 2

HapMap Linkage Disequilibrium report for RPGRIP1L (53631595 - 53737850 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for RPGRIP1L:    About this table    
Variant IDTypeSubtypePubMed ID
esv2714499CNV Deletion23290073
esv2714498CNV Deletion23290073
esv2714500CNV Deletion23290073
esv2651638CNV Deletion19546169
esv2660513CNV Deletion23128226
esv268190CNV Insertion20981092
nsv906668CNV Loss21882294
nsv525463CNV Loss19592680

Human Gene Mutation Database (HGMD): RPGRIP1L
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing RPGRIP1L
DNA2.0 Custom Variant and Variant Library Synthesis for RPGRIP1L

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610937   
OMIM disorders: 611560  611561  216360  
UniProtKB/Swiss-Prot: FTM_HUMAN, Q68CZ1
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies.
    Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities,
    fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral
    nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert
    syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others.
    Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders,
    leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L,
    influence the clinical outcome
  • Joubert syndrome 7 (JBTS7) [MIM:611560]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Meckel syndrome 5 (MKS5) [MIM:611561]: A 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to
    cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain
    malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal
    cysts, may be variable. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for RPGRIP1L (see all 49):    
    About MalaCards
    meckel syndrome 5    rpgrip1l-related meckel syndrome    gender identity disorder    transvestism
    joubert syndrome 7    nephronophthisis 8    rpgrip1l-related joubert syndrome    coach syndrome
    congenital hepatic fibrosis    meckel syndrome    joubert syndrome with renal anomalies    alstrom syndrome
    joubert syndrome    meckel syndrome 1    nephronophthisis    asphyxiating thoracic dystrophy
    encephalocele    joubert syndrome and related disorders    encephaloceles    was-related disorders

    2 diseases from the University of Copenhagen DISEASES database for RPGRIP1L:
    Gender identity disorder     Nephronophthisis

    RPGRIP1L for disorders           About GeneDecksing

    GeneTests: RPGRIP1L
    GeneReviews: RPGRIP1L
    Genetic Association Database (GAD): RPGRIP1L
    Human Genome Epidemiology (HuGE) Navigator: RPGRIP1L (11 documents)

    Export disorders for RPGRIP1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RPGRIP1L gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with RPGRIP1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    2. Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample. (PubMed id 19844207)1, 4 Riley B....Kendler K.S. (Mol. Psychiatry 2010)
    3. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PubMed id 19574260)1, 2 Doherty D.... Glass I.A. (J. Med. Genet. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor. (PubMed id 19464661)1, 2 Tokue S.... Nakahata N. (Prostaglandins Other Lipid Mediat. 2009)
    6. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (PubMed id 19430481)1, 2 Khanna H.... Katsanis N. (Nat. Genet. 2009)
    7. Association analysis of type 2 diabetes Loci in type 1 diabetes. (PubMed id 18426861)1, 4 Qu H.Q....Polychronakos C. (Diabetes 2008)
    8. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (PubMed id 18565097)1, 4 Brancati F....Valente E.M. (Clin. Genet. 2008)
    9. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (PubMed id 17558409)1, 2 Delous M....Saunier S. (Nat. Genet. 2007)
    10. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. (PubMed id 17558407)1, 2 Arts H.H.... Roepman R. (Nat. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23322 HGNC: 29168 AceView: KIAA1005 Ensembl:ENSG00000103494 euGenes: HUgn23322
    ECgene: RPGRIP1L H-InvDB: RPGRIP1L

    (According to HUGE)
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    HUGE: KIAA1005

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RPGRIP1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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