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

RPGRIP1L Gene

protein-coding   GIFtS: 50
GCID: GC16M053633

RPGRIP1-like
 Explore 38 diseases affiliated with
RPGRIP1L via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RPGRIP1L    

Aliases
for RPGRIP1L gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
RPGRIP1-Like1     RPGR-Interacting Protein 1-Like Protein2 3
FTM1 2 3     Fantom Homolog2
NPHP81 2 3     Nephrocystin-83
JBTS71 2 5     Protein Fantom2
MKS51 2 5     Nephrocystin-83
KIAA10051 3 5     RPGRIP1-Like Protein3
CORS31 2     

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


Summaries
for RPGRIP1L gene

(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:
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)

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)




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 (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
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 plasmid: RPGRIP1L 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

Proteins
for RPGRIP1L gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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, 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q68CZ1

    • RPGRIP1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for RPGRIP1L

    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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    Protein Domains /
    Families
    for RPGRIP1L gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RPGRIP1L for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000008 C2 domain

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


    Function
    for RPGRIP1L gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    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 plasmid: RPGRIP1L 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-out Rpgrip1ltm1Urt for RPGRIP1L
         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


    Pathways & Interactions
    for RPGRIP1L gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001822kidney development IEA--
    GO:0001889liver development IEA--
    GO:0007368determination of left/right symmetry IEA--
    GO:0007420brain development ----


    RPGRIP1L for ontologies           About GeneDecksing



    Drugs & Compounds
    for RPGRIP1L gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    Browse Tocris compounds for RPGRIP1L
    Search CenterWatch for drugs/clinical trials and news about RPGRIP1L / FTM 

    Transcripts
    for RPGRIP1L gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

    miRNA
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    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 plasmid: RPGRIP1L 3' UTR sequence
    Inhib. RNA
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    Clone
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    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.99927936  DT.120663412  DT.92414943  DT.40305901 
    DT.75152024 

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

    BM683568 BF515597 AI254247 CD674885 AW268455 BX089693 F08981 CN478693 
    BX498770 CA313857 AA773007 BM718521 F11320 AA219208 AA313221 AB023222 
    AI089497 AA295698 BC017977 AA694125 AA988416 BU179018 AW057519 AI018605 

    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

    Expression
    for RPGRIP1L gene

    (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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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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    Orthologs
    for RPGRIP1L gene

    (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 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 64(a)
    		 1 ↔ 1
    		 LGc(500899-565720)
    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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 21(a)
    		 1 → many
    		 Group5.12(521896-524473)
    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
    for RPGRIP1L gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPGRIP1L gene
    RPGRIP12  
    18/38 SIMAP similar genes for RPGRIP1L using alignment to 9 protein entries:     FTM_HUMAN (see all proteins) (see all similar genes):
    SUMO1    ARL6IP5    KIAA1651    pp12301    CDK10    HC6
    SH2B3    COQ5    C1orf143    ARIH1    NLN    DOCK8
    KIAA0101    LOC100996300    NLRC5    PFKFB3    GALK2    MST132

    RPGRIP1L for paralogs           About GeneDecksing



    Genomic Variants
    for RPGRIP1L gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1564 NCBI SNPs in RPGRIP1L are shown (see all 1564)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1456651291,2
    		Cpathogenic39566929(+) TGCTCG/AGGACT 4 /R /* stg11Minor allele frequency- A:0.00NA 4552
    rs1219182041,2
    		Cpathogenic39573677(-) TCCACC/TAGGCT 4 Q * stg11Minor allele frequency- T:0.00NA 4448
    rs1219181991,2
    		Cpathogenic39607410(-) GAGAAC/TAGCAA 4 Q * stg11Minor allele frequency- T:0.00EU 1307
    rs1219181971,2
    		C,pathogenic39607470(-) TCCTGA/TAAACT 4 K * stg10--------
    rs617470711,2
    		C,F,pathogenic39607482(+) CTCAGC/TCAAGT 4 T A mis17Minor allele frequency- T:0.06NS NA CSA WA EU 6169
    rs356696821,2
    		C,F,--39522614(+) TCCAAG/CTAATT 2 -- ut314Minor allele frequency- C:0.04NA 126
    rs171954721,2
    		C,--39523373(+) TGTCAC/TGTGTG 2 -- int13Minor allele frequency- T:0.01NA 142
    rs1120318461,2
    		--39523374(+) GTCACT/GTGTGC 2 -- int12Minor allele frequency- G:0.33CSA 3
    rs1115058991,2
    		--39525078(+) AAAGAC/TAATTT 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs169523641,2
    		C,F,--39525193(+) GCCACG/ATGGTT 2 -- int15Minor allele frequency- A:0.05NA WA 380

    HapMap Linkage Disequilibrium report for RPGRIP1L (53631595 - 53737850 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RPGRIP1L
         1 CNV: 102285
    Human Gene Mutation Database (HGMD): RPGRIP1L

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPGRIP1L
    DNA2.0 Custom Variant and Variant Library Synthesis for RPGRIP1L

    Disorders / Diseases
    for RPGRIP1L gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RPGRIP1L for disorders           About GeneDecksing

    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
  • 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
  • Defects in RPGRIP1L are a cause of COACH syndrome (COACHS) [MIM:216360]. It is 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

    20/38 diseases for RPGRIP1L (see all 38):    About MalaCards
    meckel syndrome, type 5    meckel syndrome    joubert syndrome    oculomotor apraxia
    senior-loken syndrome    bardet-biedl syndrome    asphyxiating thoracic dystrophy    leber congenital amaurosis
    joubert syndrome 7    encephalocele    encephaloceles    joubert syndrome and related disorders
    apraxia    corpus callosum    coach syndrome    transvestism
    cerebellar hypoplasia    essential tremor    fundus dystrophy    was-related disorders

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

    Human Genome Epidemiology (HuGE) Navigator: RPGRIP1L (11 documents)

    Export disorders for RPGRIP1L gene to outside databases

    Publications
    for RPGRIP1L gene

    (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 38):
    (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. 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)
    3. 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)
    4. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (PubMed id 19430481)1, 2 Khanna H....Katsanis N. (2009)
    5. 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)
    6. 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)
    7. Polymorphic variation of RPGRIP1L and IQCB1 as modifie rs of X-linked retinitis pigmentosa caused by mutations in RPGR. (PubMed id 22183348)1 Fahim A.T....Daiger S.P. (2012)
    8. Molecular approach in the study of Alstrom syndrome: a nalysis of ten Spanish families. (PubMed id 22876109)1 Pineiro-Gallego T....Valverde D. (2012)
    9. Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia. (PubMed id 22425971)1 Woo J. and Lee C. (2012)
    10. Allelic heterogeneity and genetic modifier loci contr ibute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. (PubMed id 21857984)1 Fahim A.T....Daiger S.P. (2011)

    External Searches for RPGRIP1L gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RPGRIP1L gene

    (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

    Other Databases showing RPGRIP1L gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1005

    Specialized Databases showing RPGRIP1L gene

    (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

    Intellectual Property
    for RPGRIP1L gene

    (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:
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