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AIPL1 Gene

protein-coding   GIFtS: 59
GCID: GC17M006297

Aryl Hydrocarbon Receptor Interacting Protein-Like 1

(Previous name: aryl hydrocarbon receptor-interacting protein-like 1)
(Previous symbol: LCA4)
  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
Aryl Hydrocarbon Receptor Interacting Protein-Like 11 2
LCA41 2 5
AIPL22 3
Aryl Hydrocarbon Receptor-Interacting Protein-Like 11
Aryl-Hydrocarbon-Interacting Protein-Like 12

External Ids:    HGNC: 3591   Entrez Gene: 237462   Ensembl: ENSG000001292217   OMIM: 6043925   UniProtKB: Q9NZN93   

Export aliases for AIPL1 gene to outside databases

Previous GC identifers: GC17M006718 GC17M007058 GC17M006272 GC17M006528 GC17M006268


(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 AIPL1 Gene:
Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and
accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the
first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat
electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting
protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide
motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately
20% of recessive LCA. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jan
2014)

GeneCards Summary for AIPL1 Gene:
AIPL1 (aryl hydrocarbon receptor interacting protein-like 1) is a protein-coding gene. Diseases associated with AIPL1 include aipl1-related retinitis pigmentosa, and aipl1-related leber congenital amaurosis. GO annotations related to this gene include unfolded protein binding and farnesylated protein binding. An important paralog of this gene is AIP.

UniProtKB/Swiss-Prot: AIPL1_HUMAN, Q9NZN9
Function: May be important in protein trafficking and/or protein folding and stabilization

Gene Wiki entry for AIPL1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AIPL1 gene promoter:
         RORalpha1   GR   AML1a   p53   GR-beta   IRF-7A   GR-alpha   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAIPL1 promoter sequence
   Search Chromatin IP Primers for AIPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AIPL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.1

AIPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AIPL1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M006297:  view genomic region     (about GC identifiers)

Start:
6,297,013 bp from pter      End:
6,338,519 bp from pter
Size:
41,507 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: AIPL1_HUMAN, Q9NZN9 (See protein sequence)
Recommended Name: Aryl-hydrocarbon-interacting protein-like 1  
Size: 384 amino acids; 43903 Da
Subunit: Interacts with NUB1
Secondary accessions: D3DTM4 Q659W3 Q659W4 Q6ZZB6 Q8N6A0 Q9H873 Q9NS10
Alternative splicing: 5 isoforms:  Q9NZN9-1   Q9NZN9-2   Q9NZN9-3   Q9NZN9-4   Q9NZN9-5   

Explore the universe of human proteins at neXtProt for AIPL1: NX_Q9NZN9

Explore proteomics data for AIPL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AIPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001028226.1  NP_001028227.1  NP_001272328.1  NP_001272329.1  NP_001272330.1  NP_001272331.1  NP_001272332.1  NP_055151.3  

    ENSEMBL proteins: 
     ENSP00000467360   ENSP00000370520   ENSP00000370521   ENSP00000250087   ENSP00000458456  
     ENSP00000459673   ENSP00000461287   ENSP00000460827   ENSP00000459522   ENSP00000460134  
     ENSP00000460672  

    AIPL1 Human Recombinant Protein Products:

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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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    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001179 PPIase_FKBP_dom
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9NZN9

    ProtoNet protein and cluster: Q9NZN9

    UniProtKB/Swiss-Prot: AIPL1_HUMAN, Q9NZN9
    Similarity: Contains 1 PPIase FKBP-type domain
    Similarity: Contains 3 TPR repeats


    AIPL1 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: AIPL1_HUMAN, Q9NZN9
    Function: May be important in protein trafficking and/or protein folding and stabilization

         Genatlas biochemistry entry for AIPL1:
    arylhydrocarbon interacting protein-like 1,specifically expressed in the photoreceptor and pineal gland,maybe
    involved in retinal protein folding or trafficking

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001918farnesylated protein binding IDA14555765
    GO:0005515protein binding IPI12374762
    GO:0051082unfolded protein binding TAS10615133
         
    AIPL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for AIPL1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Aipl1):
     nervous system  vision/eye 

    AIPL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AIPL1: Aipl1tm1Visu Aipl1tm1Tili Aipl1tm1Mad

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AIPL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AIPL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AIPL1

    miRNA
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    miRTarBase miRNAs that target AIPL1:
    hsa-mir-3615 (MIRT052853)

    Block miRNA regulation of human, mouse, rat AIPL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AIPL1:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidAIPL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AIPL1

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    GenScript: all cDNA clones in your preferred vector (see all 3): AIPL1 (NM_014336)
    Sino Biological Human cDNA Clone for AIPL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AIPL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AIPL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIPL1


    (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
    AIPL1_HUMAN, Q9NZN9: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001917photoreceptor inner segment IEA--
    GO:0005634nucleus IDA12374762
    GO:0005737cytoplasm IDA12374762

    AIPL1 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 AIPL1: 
              TGFB Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AIPL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for AIPL1 (Q9NZN91, 3 ENSP000003705214) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUB1Q9Y5A71, 3, ENSP000003986444EBI-6557414,EBI-3936907 I2D: score=2 STRING: ENSP00000398644
    UBA6ENSP000003134544STRING: ENSP00000313454
    UBDENSP000003662494STRING: ENSP00000366249
    ACDENSP000003774964STRING: ENSP00000377496
    POT1ENSP000003502494STRING: ENSP00000350249
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEA--
    GO:0006457protein folding IEA--
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light IEA--
    GO:0018343protein farnesylation IDA14555765

    AIPL1 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 AIPL1

    1 Novoseek inferred chemical compound relationship for AIPL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin a 35 4 18632300 (1), 19753312 (1), 12015276 (1), 11377968 (1)



    AIPL1 for compounds           About GeneDecksing



    (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 AIPL1 gene (8 alternative transcripts): 
    NM_001033054.2  NM_001033055.2  NM_001285399.2  NM_001285400.2  NM_001285401.2  NM_001285402.1  NM_001285403.2  NM_014336.4  

    Unigene Cluster for AIPL1:

    Aryl hydrocarbon receptor interacting protein-like 1
    Hs.279887  [show with all ESTs]
    Unigene Representative Sequence: NM_014336
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570584 ENST00000381128(uc021toq.1) ENST00000381129(uc002gcq.3 uc002gcp.3 uc010clk.3 uc010cll.3)
    ENST00000250087(uc002gcr.3) ENST00000574506 ENST00000575265(uc021tor.1 uc002gcs.3)
    ENST00000570466 ENST00000576776 ENST00000576307 ENST00000571740 ENST00000574913

    miRNA
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    Block miRNA regulation of human, mouse, rat AIPL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AIPL1:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidAIPL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AIPL1
    Predesigned siRNA for gene silencing in human, mouse, rat AIPL1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AIPL1
      QuantiTect SYBR Green Assays in human, mouse, rat AIPL1
      QuantiFast Probe-based Assays in human, mouse, rat AIPL1

    Additional mRNA sequence: 

    AB593042.1 AB593043.1 AB593044.1 AB593045.1 AB593046.1 AB593047.1 AB593048.1 AB593049.1 
    AB593050.1 AB593051.1 AB593052.1 AB593053.1 AB593054.1 AB593055.1 AF038437.1 AF148864.1 
    AF525970.1 AJ633677.1 AJ633678.1 AJ830742.1 AJ830743.1 AK023970.1 AK314558.1 BC007994.1 
    BC012055.1 BX537907.1 BX647279.1 DQ426860.1 

    11 DOTS entries:

    DT.429720  DT.100026904  DT.99950514  DT.100026903  DT.121008011  DT.121008021  DT.121008017  DT.97819580 
    DT.100026905  DT.100770217  DT.100026906 

    Selected AceView cDNA sequences (see all 167):

    BM717156 BQ636208 BQ425640 BM685943 BM800006 BM461432 BM704792 BE252820 
    BQ639666 BM452360 BQ636114 BM686309 BM708560 BU181994 BQ637990 BQ638961 
    BM666266 BU726134 BC007994 BQ434300 AF525970 BX491276 BE257524 BX953335 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AIPL1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c
    SP1:                                                  -           -           -                     
    SP2:                                -                 -                       -                     
    SP3:                                                  -                       -                     
    SP4:                                            -     -                       -                     
    SP5:                                -     -           -                       -                     


    ECgene alternative splicing isoforms for AIPL1

    (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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    AIPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AIPL1 Expression
    About this image


    AIPL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    AIPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AIPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279887

    UniProtKB/Swiss-Prot: AIPL1_HUMAN, Q9NZN9
    Tissue specificity: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and
    within the photoreceptors of the adult retina

        Pathway & Disease-focused RT2 Profiler PCR Array including AIPL1: 
              TGFB Signaling Targets in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AIPL1
    QuantiTect SYBR Green Assays in human, mouse, rat AIPL1
    QuantiFast Probe-based Assays in human, mouse, rat AIPL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIPL1

    (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 AIPL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aipl11 , 5 aryl hydrocarbon receptor-interacting protein-like more1, 5 85.57(n)1
    87.2(a)1
      11 (43.81 cM)5
    1142301  NM_053245.21  NP_444475.21 
     720279635 
    chicken
    (Gallus gallus)
    Aves AIPL11 aryl hydrocarbon receptor interacting protein-like more 67.38(n)
    58.05(a)
      769785  XM_001233084.3  XP_001233085.3 
    lizard
    (Anolis carolinensis)
    Reptilia AIPL16
    aryl hydrocarbon receptor interacting protein-like...
    54(a)
    1 ↔ 1
    GL343451.1(202876-209273)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aipl11 aryl hydrocarbon receptor interacting protein-like more 67.07(n)
    71.12(a)
      100101778  XM_002933509.2  XP_002933555.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005370951 aryl-hydrocarbon-interacting protein-like 1-like 66.47(n)
    63.36(a)
      100537095  XM_003200052.2  XP_003200100.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18473 aryl hydrocarbon-receptor binding 36(a)   10F2   --
    worm
    (Caenorhabditis elegans)
    Secernentea C56C10.103 TPR domain 32(a)   II(6592533-6594197)   --


    ENSEMBL Gene Tree for AIPL1 (if available)
    TreeFam Gene Tree for AIPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AIPL1 gene
    AIP2  
    2 SIMAP similar genes for AIPL1 using alignment to 9 protein entries:     AIPL1_HUMAN (see all proteins):
    DKFZp686O2183    AIP

    AIPL1 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 AIPL1 (see all 550)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0101394
    Leber congenital amaurosis 4 (LCA4)4--see VAR_0101392 C R mis40--------
    VAR_0671654
    Leber congenital amaurosis 4 (LCA4)4--see VAR_0671652 R H mis40--------
    rs626370141,2
    C,Fpathogenic16316326(-) GTGTGG/AAATGA 6 /* /W stg11Minor allele frequency- A:0.00NA 4386
    rs626370121,2
    Cpathogenic16317229(-) GCCAGC/TGCCTG 6 R C mis10--------
    rs617574841,2
    C,Funtested16316034(+) GGACGG/AGGGTG 6 /P /S mis13Minor allele frequency- A:0.03NS WA NA 3908
    rs1156814661,2
    C,Funtested16316223(+) CTCCGC/ACATGC 6 /A /S mis13Minor allele frequency- A:0.01WA NA EU 5661
    rs626370151,2,,4
    C,Funtested16316255(-) GGTGCG/TCAGGG 6 R L mis12Minor allele frequency- T:0.00NA EU 5595
    rs72221261,2
    C,Funtested16317142(+) TCCGCC/TCCTGC 3 -- int16Minor allele frequency- T:0.06WA NA CSA EA EU 517
    rs1423269261,2
    Cuntested16317160(+) CGCACC/TTGGGT 6 S G mis11Minor allele frequency- T:0.00NA 4522
    rs626370181,2
    C,Funtested16317179(-) AGTGAT/CATTCT 6 /D syn12Minor allele frequency- C:0.01WA NA 4666

    HapMap Linkage Disequilibrium report for AIPL1 (6297013 - 6338519 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AIPL1: --
    Human Gene Mutation Database (HGMD): AIPL1
    Locus Specific Mutation Databases (LSDB): AIPL1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AIPL1
    DNA2.0 Custom Variant and Variant Library Synthesis for AIPL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604392   
    OMIM disorders: 604393  
    UniProtKB/Swiss-Prot: AIPL1_HUMAN, Q9NZN9
  • Leber congenital amaurosis 4 (LCA4) [MIM:604393]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for AIPL1 (see all 22):    
    About MalaCards
    aipl1-related retinitis pigmentosa    aipl1-related leber congenital amaurosis    leber congenital amaurosis 4    retinal disease
    rpe65-related leber congenital amaurosis    retinitis pigmentosa, juvenile    keratoconus    retinitis pigmentosa
    leber congenital amaurosis    leber congenital amaurosis 17    cone-rod dystrophy 2    fundus dystrophy
    rhyns syndrome    blindness    cone-rod dystrophy    retinal degeneration
    coloboma    retinitis    retinoblastoma    choroiditis

    6 diseases from the University of Copenhagen DISEASES database for AIPL1:
    Leber congenital amaurosis     Fundus dystrophy     Blindness     cone-rod dystrophy
    Retinitis pigmentosa     Keratoconus

    AIPL1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AIPL1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 98.2 23 15081406 (2), 15249368 (2), 15347646 (2), 14638743 (2) (see all 15)
    cone-rod dystrophy 84.8 2 19710705 (1), 11139241 (1)
    retinitis pigmentosa 78.5 8 16272259 (2), 15370538 (1), 19753312 (1), 11139241 (1) (see all 7)
    retinal degeneration 76.4 10 12374762 (2), 19710705 (2), 10873396 (1), 15365173 (1) (see all 6)
    blindness 73 10 14611946 (2), 10873396 (1), 11420621 (1), 15469903 (1) (see all 6)
    visual impairment 64.6 3 14638743 (1), 15365173 (1)
    retinopathy 59 12 10873396 (3), 11420621 (2), 15365173 (2), 15081406 (1) (see all 5)
    maculopathy 57.5 2 15249368 (1), 16936081 (1)
    keratoconus 52.4 3 11548141 (1), 15249368 (1), 19407021 (1)
    vision low 51.6 1 16205573 (1)

    GeneTests: AIPL1
    GeneReviews: AIPL1
    Genetic Association Database (GAD): AIPL1
    Human Genome Epidemiology (HuGE) Navigator: AIPL1 (3 documents)

    Export disorders for AIPL1 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 AIPL1 gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with AIPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. (PubMed id 10615133)1, 2, 3, 9 Sohocki M.M.... Daiger S.P. (Nat. Genet. 2000)
    2. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. (PubMed id 14555765)1, 3, 9 Ramamurthy V....Hurley J.B. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase. (PubMed id 15365173)1, 3, 9 Liu X....Li T. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. (PubMed id 12374762)1, 2, 9 Akey D.T....Sohocki M.M. (Hum. Mol. Genet. 2002)
    5. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. (PubMed id 15249368)1, 4, 9 Dharmaraj S....Maumenee I.H. (Arch. Ophthalmol. 2004)
    6. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PubMed id 19753312)1, 4, 9 Sundaresan P....Stone E.M. (Mol. Vis. 2009)
    7. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    8. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (PubMed id 21602930)1, 2 Li L....Hejtmancik J.F. (PLoS ONE 2011)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 23746 HGNC: 359 AceView: AIPL1 Ensembl:ENSG00000129221 euGenes: HUgn23746
    ECgene: AIPL1 H-InvDB: AIPL1

    (According to HUGE)
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      --

    (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 AIPL1 Pharmacogenomics, SNPs, Pathways
    Mutations of the AIPL1 genehttp://www.retina-international.org/files/sci-news/aipl1mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AIPL1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AIPL1 gene:
    Search GeneIP for patents involving AIPL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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