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

AHI1 Gene

protein-coding   GIFtS: 55
GCID: GC06M135646

Abelson Helper Integration Site 1

(Previous name: Abelson helper integration site)
  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
Abelson Helper Integration Site 11 2     JBTS32
Abelson Helper Integration Site 1 Protein Homolog2 3     ORF12
AHI-12 3     Contatins SH3 And WD40 Domains2
Jouberin1     dJ71N10.12
Abelson Helper Integration Site1     jouberin2

External Ids:    HGNC: 215751   Entrez Gene: 548062   Ensembl: ENSG000001355417   OMIM: 6088945   UniProtKB: Q8N1573   

Export aliases for AHI1 gene to outside databases

Previous GC identifers: GC06M135540 GC06M135585 GC06M133169


(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 AHI1 Gene:
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause
specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited
developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript
variants encoding different isoforms have been identified. (provided by RefSeq, Oct 2008)

GeneCards Summary for AHI1 Gene: 
AHI1 (Abelson helper integration site 1) is a protein-coding gene. Diseases associated with AHI1 include joubert syndrome and related disorders, and ahi1-related joubert syndrome. GO annotations related to this gene include protein binding. An important paralog of this gene is WDR44.

UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157
Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and
acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes (By
similarity)

Gene Wiki entry for AHI1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AHI1 gene promoter:
         RFX1   POU2F1   POU2F1a   Nkx2-5   Evi-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAHI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AHI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHI1


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

Entrez Gene cytogenetic band: 6q23.3   Ensembl cytogenetic band:  6q23.3   HGNC cytogenetic band: 6q23.2

AHI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHI1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M135646:  view genomic region     (about GC identifiers)

Start:
135,604,670 bp from pter      End:
135,818,914 bp from pter
Size:
214,245 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: AHI1_HUMAN, Q8N157 (See protein sequence)
Recommended Name: Jouberin  
Size: 1196 amino acids; 137115 Da
Subunit: Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 (By similarity). Interacts
with NPHP1
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell junction, adherens junction
Sequence caution: Sequence=AAH29417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH65712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=CAI20201.1; Type=Erroneous gene model prediction; Sequence=CAI20387.1; Type=Erroneous
gene model prediction; Sequence=CAI22523.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for AHI1:
4ESR (3D)    
Secondary accessions: E1P584 Q504T3 Q5TCP9 Q6P098 Q6PIT6 Q8NDX0 Q9H0H2
Alternative splicing: 3 isoforms:  Q8N157-1   Q8N157-2   Q8N157-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AHI1: NX_Q8N157

Explore proteomics data for AHI1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N157

  • AHI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AHI1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001128302.1  NP_001128303.1  NP_001128304.1  NP_060121.3  

    ENSEMBL proteins: 
     ENSP00000356774   ENSP00000388650   ENSP00000435710   ENSP00000356773   ENSP00000433864  
     ENSP00000265602   ENSP00000432167   ENSP00000322478   ENSP00000434697   ENSP00000433063  
     ENSP00000433017   ENSP00000436071   ENSP00000436516   ENSP00000416867   ENSP00000356772  

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    Cloud-Clone Corp. Proteins for AHI1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA18633336
    GO:0005814centriole ISS--
    GO:0005911cell-cell junction IDA18633336
    GO:0005912adherens junction IDA18633336
    GO:0005929cilium ISS--

    AHI1 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
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR001452 SH3_domain
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8N157

    ProtoNet protein and cluster: Q8N157

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 7 WD repeats


    AHI1 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: AHI1_HUMAN, Q8N157
    Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and
    acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes (By
    similarity)
    Induction: Down-regulated during early differentiation of normal hematopoietic cells. Up-regulated in leukemic
    cells at all stages of differentiation from patients with chronic myeloid leukemia

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18633336
         
    AHI1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ahi1):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  immune system 
     mortality/aging  nervous system  other  renal/urinary system  vision/eye 

    AHI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ahi1tm1Jgg for AHI1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AHI1 
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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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AHI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/18 Interacting proteins for AHI1 (Q8N1571, 3 ENSP000003567744) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAP1P542573, ENSP000003340024I2D: score=1 STRING: ENSP00000334002
    SMYD2Q9NRG43, ENSP000003559244I2D: score=1 STRING: ENSP00000355924
    DNM2P505701, ENSP000003527214EBI-1049056,EBI-346547 STRING: ENSP00000352721
    CEP290ENSP000003080214STRING: ENSP00000308021
    TCTN2ENSP000003049414STRING: ENSP00000304941
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001738morphogenesis of a polarized epithelium ISS--
    GO:0001947heart looping ISS--
    GO:0002092positive regulation of receptor internalization ISS--
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway ISS--
    GO:0007417central nervous system development ISS--

    AHI1 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

    Browse Tocris compounds for AHI1

    Search CenterWatch for drugs/clinical trials and news about AHI1

    (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 AHI1 gene (4 alternative transcripts): 
    NM_001134830.1  NM_001134831.1  NM_001134832.1  NM_017651.4  

    Unigene Cluster for AHI1:

    Abelson helper integration site 1
    Hs.386684  [show with all ESTs]
    Unigene Representative Sequence: NM_001134831
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000367800(uc003qgf.3 uc003qgg.3) ENST00000457866(uc003qgi.3 uc003qgh.3 uc003qgj.3)
    ENST00000475846 ENST00000498558 ENST00000367799 ENST00000527681 ENST00000265602
    ENST00000487135 ENST00000533029 ENST00000531788(uc003qgk.4) ENST00000327035(uc003qgl.3)
    ENST00000529865 ENST00000524469 ENST00000488690 ENST00000528103 ENST00000534469
    ENST00000531527 ENST00000417892
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    Additional mRNA sequence: 

    AJ459824.1 AJ459825.1 AJ606362.1 AK000076.1 AK024085.1 AK092262.1 AK128473.1 AK225210.1 
    AL136797.1 AY133243.1 BC015019.1 BC029417.2 BC039559.1 BC050607.1 BC065712.1 BX648311.1 
    DQ090887.1 

    16 DOTS entries:

    DT.40128813  DT.100818200  DT.306757  DT.100818195  DT.40206814  DT.435291  DT.40128681  DT.121408749 
    DT.92324460  DT.100818197  DT.95310394  DT.97769235  DT.40129387  DT.92459625  DT.92459629  DT.40280473 

    24/174 AceView cDNA sequences (see all 174):

    AI701614 AI480381 BM263855 BC015019 BC050607 AJ606362 CA843420 AV746259 
    AJ459825 AA365731 AL136797 AW236604 AK092262 BU633787 AI915224 AA461436 
    AI915265 BX472147 AX747438 NM_017651 AA824415 CN480725 AU118462 AW103846 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AHI1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a ·
    SP1:                                                                                                                                -           -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c
    SP1:              -           -                 -                                 
    SP2:                                                                              
    SP3:                          -                 -           -                     
    SP4:                                                                              
    SP5:                                            -           -                     


    ECgene alternative splicing isoforms for AHI1

    (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

    AHI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AHI1 Expression
    About this image


    See AHI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AHI1

    SOURCE GeneReport for Unigene cluster: Hs.386684

    UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157
    Tissue specificity: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain,
    particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar
    peduncles. Expressed in kidney (renal collecting duct cells) (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Array including AHI1: 
              Primary Cilia in human mouse rat

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    In Situ
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    (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 and fungi.

    Orthologs for AHI1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ahi11 , 5 Abelson helper integration site 11, 5 81.31(n)1
    80.29(a)1
      10 (9.75 cM)5
    529061  NM_026203.31  NP_080479.21 
     209525475 
    chicken
    (Gallus gallus)
    Aves AHI11 Abelson helper integration site 1 64.98(n)
    53.81(a)
      421693  XM_003640965.1  XP_003641013.1 
    lizard
    (Anolis carolinensis)
    Reptilia AHI16
    Abelson helper integration site 1
    43(a)
    1 ↔ 1
    GL343200.1(2909477-3054177)
    zebrafish
    (Danio rerio)
    Actinopterygii ahi11 Abelson helper integration site 1 55.98(n)
    49.41(a)
      562701  NM_001077561.1  NP_001071029.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DGR26
    YMR102C6
    Protein of unknown function; null mutant is resist...
    Protein of unknown function; transcription is acti...
    12(a)
    10(a)
    many ↔ many
    many ↔ many
    XI(214142-216700)
    XIII(469848-472352)


    ENSEMBL Gene Tree for AHI1 (if available)
    TreeFam Gene Tree for AHI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AHI1 gene
    WDR442  
    6 SIMAP similar genes for AHI1 using alignment to 10 protein entries:     AHI1_HUMAN (see all proteins):
    GRAP2    ITSN2    ARHGEF7    SH3GL1    SH3GL2    GRAPL

    AHI1 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

    10/4213 SNPs in AHI1 are shown (see all 4213)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0233914
    Joubert syndrome 3 (JBTS3)4--see VAR_0233912 V D mis40--------
    VAR_0378944
    Joubert syndrome 3 (JBTS3)4--see VAR_0378942 R Q mis40--------
    rs1480007911,2,4
    CJoubert syndrome 3 (JBTS3)4 --135644748(+) AGTCTC/TCATTA 6 E G mis10--------
    rs1214343491,2
    Cpathogenic1135777213(-) TGCTTA/C/TGAGGC 8 R * stg10--------
    VAR_0378954
    ----see VAR_0378952 S L mis40--------
    VAR_0378924
    ----see VAR_0378922 I N mis40--------
    VAR_0379014
    ----see VAR_0379012 P S mis40--------
    rs106396341,2
    C--133195313(+) GAAAA-/AT/TA 
            
    GTGTT
    3 -- int11CSA 2
    rs2016511391,2
    --133209610(+) ATATA-/TATT  
            
    TATAG
    3 -- int10--------
    rs1463188411,2
    C--133213522(+) TTGGG-/GTGCCATAA
    ACCATAGCCATA
    GAAGA
    3 -- int10--------

    HapMap Linkage Disequilibrium report for AHI1 (135604670 - 135818914 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AHI1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669758CNV Deletion23128226
    esv2662853CNV Deletion23128226
    nsv521009CNV Loss19592680
    nsv521884CNV Loss19592680
    nsv519167CNV Loss19592680


    Human Gene Mutation Database (HGMD): AHI1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AHI1
    DNA2.0 Custom Variant and Variant Library Synthesis for AHI1

    (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.)
    About This Section
    OMIM gene information: 608894   
    OMIM disorders: 608629  
    UniProtKB/Swiss-Prot: AHI1_HUMAN, Q8N157
  • Joubert syndrome 3 (JBTS3) [MIM:608629]: 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. Joubert syndrome type 3
    shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/27 diseases for AHI1 (see all 27):    About MalaCards
    joubert syndrome and related disorders    ahi1-related joubert syndrome    joubert syndrome    was-related disorders
    anterior horn cell disease    polymicrogyria    senior-loken syndrome    asphyxiating thoracic dystrophy
    nephronophthisis    apraxia    cystic kidney    fundus dystrophy
    polydactyly    cerebellar ataxia    hypotonia    intellectual disability
    chronic myeloid leukemia    bipolar disorder    mental retardation    ataxia

    5 diseases from the University of Copenhagen DISEASES database for AHI1:
    Nephronophthisis     Fundus dystrophy     Cystic kidney     Anterior horn cell disease
    Polydactyly

    AHI1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for AHI1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphp1 96.5 20 17409309 (5), 18054307 (4), 17960139 (3), 16155189 (3) (see all 7)
    mental retardation 60.4 1 16773125 (1)
    renal disease 20.9 3 18054307 (2), 16155189 (1)

    GeneTests: AHI1
    GeneReviews: AHI1
    Genetic Association Database (GAD): AHI1
    Human Genome Epidemiology (HuGE) Navigator: AHI1 (13 documents)

    Export disorders for AHI1 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 AHI1 gene, integrated from 9 sources (see all 62):
    (articles sorted by number of sources associating them with AHI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of common variants in the Joubert syndrome gene (AHI1) with autism. (PubMed id 18782849)1, 4, 9 Alvarez Retuerto A.I....Geschwind D.H. (2008)
    2. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PubMed id 18633336)1, 2, 9 Eley L....Sayer J.A. (2008)
    3. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. (PubMed id 15467982)1, 2, 9 Dixon-Salazar T....Gleeson J.G. (2004)
    4. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. (PubMed id 17409309)1, 4, 9 Tory K....Saunier S. (2007)
    5. A large replication study and meta-analysis in Europe an samples provides further support for association of AHI1 markers with schizo phrenia. (PubMed id 20071346)1, 4, 9 Ingason A....Tosato S. (2010)
    6. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (PubMed id 16240161)1, 3, 9 Utsch B....Hildebrandt F. (2006)
    7. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (PubMed id 16453322)1, 2, 9 Valente E.M....Gleeson J.G. (2006)
    8. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (2011)
    9. Impact of the AHI1 gene on the vulnerability to schiz ophrenia: a case-control association study. (PubMed id 20805890)1, 4 Rivero O....Lesch K.P. (2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 54806 HGNC: 21575 AceView: AHI1 Ensembl:ENSG00000135541 euGenes: HUgn54806
    ECgene: AHI1 H-InvDB: AHI1

    (According to HUGE)
    About This Section
      --

    (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 AHI1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AHI1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AHI1 gene:
    Search GeneIP for patents involving AHI1

    Licensable Technologies for AHI1 gene:
    Weizmann Institute:Early Detection of Susceptibility to Schizophrenia by Associated Genes and Markers
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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