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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPGRIP1L Gene

protein-coding   GIFtS: 53
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 rpgrip1l-related meckel syndrome, and gender identity disorder. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RPGRIP1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q68CZ1

  • RPGRIP1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RPGRIP1L Protein Expression
    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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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR021656 DUF3250
     IPR018029 C2_membr_targeting
     IPR000008 C2_Ca-dep

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rpgrip1l):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  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 - Custom generated mouse model solutions for RPGRIP1L 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPGRIP1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for RPGRIP1L (ENSP000003692574) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAENSP000003260314STRING: ENSP00000326031
    ATXN10ENSP000002529344STRING: ENSP00000252934
    IQCB1ENSP000003115054STRING: ENSP00000311505
    NPHP4ENSP000003673984STRING: ENSP00000367398
    NPHP1ENSP000003131694STRING: ENSP00000313169
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

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    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/58 AceView cDNA sequences (see all 58):

    AA313221 AB023222 AI254247 AA694125 F08981 BC017977 BM718521 AI089497 
    AA219208 AW268455 CD674885 AA295698 BF515597 BX498770 BM683568 AA988416 
    BX089693 BU179018 F11320 AA773007 CN478693 CA313857 BX101610 AI355885 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See RPGRIP1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPGRIP1L

    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

        SABiosciences Expression via Pathway-Focused PCR Array including RPGRIP1L: 
              Primary Cilia in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RPGRIP1L gene from 6/14 species (see all 14)    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 69.14(n)
    60.38(a)
      425392  XM_001234247.2  XP_001234248.2 
    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 57.74(n)
    52.97(a)
      557688  XM_002666951.2  XP_002666997.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mks-51 Protein MKS-5 41.63(n)
    25.23(a)
      174654  NM_063912.2  NP_496313.1 


    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)
    About This Section
    Paralogs for RPGRIP1L gene
    RPGRIP12  
    18/44 SIMAP similar genes for RPGRIP1L using alignment to 9 protein entries:     FTM_HUMAN (see all proteins) (see all similar genes):
    SUMO1    ARL6IP5    KIAA1651    LOC100996577    pp12301    VPS33A
    CDK10    HC6    LOC100996426    SH2B3    COQ5    C1orf143
    ARIH1    NLN    DOCK8    DPP9    KIAA0101    NLRC5

    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1927 SNPs in RPGRIP1L are shown (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
    ----------
    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--------
    rs1513329231,2,4
    C,FMeckel syndrome 5 (MKS5)4 --54652695(+) GAAGCG/AAAGGC 4 /R /C mis12Minor allele frequency- A:0.00NA EU 5875
    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
    VAR_0664764
    ----see VAR_0664762 S G mis40--------

    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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 20/44 diseases for RPGRIP1L (see all 44):    About MalaCards
    rpgrip1l-related meckel syndrome    gender identity disorder    transvestism    joubert syndrome 7
    nephronophthisis 8    meckel syndrome, type 5    rpgrip1l-related joubert syndrome    coach syndrome
    congenital hepatic fibrosis    joubert syndrome    meckel syndrome    joubert syndrome and related disorders
    alstrom syndrome    asphyxiating thoracic dystrophy    encephalocele    encephaloceles
    was-related disorders    senior-loken syndrome    apraxia    cerebellar hypoplasia

    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)
    About This Section

    PubMed articles for RPGRIP1L gene, integrated from 9 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. (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. (2010)
    3. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) caus e COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PubMed id 19574260)1, 2 Doherty D....Glass I.A. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (2009)
    6. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (PubMed id 19430481)1, 2 Khanna H....Katsanis N. (2009)
    7. Association analysis of type 2 diabetes Loci in type 1 diabetes. (PubMed id 18426861)1, 4 Qu H.Q....Polychronakos C. (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. (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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23322 HGNC: 29168 AceView: KIAA1005 Ensembl:ENSG00000103494 euGenes: HUgn23322
    ECgene: RPGRIP1L H-InvDB: RPGRIP1L

    (According to HUGE)
    About This Section
    HUGE: KIAA1005

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



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