Human Gene AHI1 (ENST00000457866.6) Description and Page Index
  Description: Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 2, mRNA. (from RefSeq NM_017651)
RefSeq Summary (NM_017651): 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].
Gencode Transcript: ENST00000457866.6
Gencode Gene: ENSG00000135541.21
Transcript (Including UTRs)
   Position: hg38 chr6:135,283,986-135,497,765 Size: 213,780 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg38 chr6:135,285,645-135,492,237 Size: 206,593 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:135,283,986-135,497,765)mRNA (may differ from genome)Protein (1196 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Jouberin; AltName: Full=Abelson helper integration site 1 protein homolog; Short=AHI-1;
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).
SUBUNIT: Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 (By similarity). Interacts with NPHP1.
INTERACTION: P50570:DNM2; NbExp=2; IntAct=EBI-1049056, EBI-346547;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell junction, adherens junction.
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).
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.
DISEASE: Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) [MIM:608629]. 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 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. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 7 WD repeats.
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;
WEB RESOURCE: Name=GeneReviews; URL="";

-  MalaCards Disease Associations
  MalaCards Gene Search: AHI1
Diseases sorted by gene-association score: joubert syndrome 3* (1229), joubert syndrome with ocular anomalies* (750), joubert syndrome 1* (544), ahi1-related joubert syndrome* (500), nephronophthisis 1, juvenile (11), anterior horn cell disease (6), joubert syndrome and related disorders (6), ciliopathy (6), hydrolethalus syndrome (5), bardet-biedl syndrome 13 (4), senior-loken syndrome-1 (4), nephronophthisis (3), meckel syndrome 1 (1), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.96 RPKM in Pituitary
Total median expression: 252.11 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -123.90299-0.414 Picture PostScript Text
3' UTR -405.301659-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001452 - SH3_domain
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00018 - SH3 domain
PF00400 - WD domain, G-beta repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q8N157
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0001738 morphogenesis of a polarized epithelium
GO:0001947 heart looping
GO:0002092 positive regulation of receptor internalization
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007417 central nervous system development
GO:0010842 retina layer formation
GO:0016192 vesicle-mediated transport
GO:0030030 cell projection organization
GO:0030154 cell differentiation
GO:0030862 positive regulation of polarized epithelial cell differentiation
GO:0030902 hindbrain development
GO:0034613 cellular protein localization
GO:0035844 cloaca development
GO:0035845 photoreceptor cell outer segment organization
GO:0039008 pronephric nephron tubule morphogenesis
GO:0039023 pronephric duct morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050795 regulation of behavior
GO:0060271 cilium assembly
GO:0065001 specification of axis polarity
GO:0070121 Kupffer's vesicle development
GO:0070986 left/right axis specification
GO:0071599 otic vesicle development
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005929 cilium
GO:0030054 cell junction
GO:0036038 MKS complex
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0097730 non-motile cilium

-  Descriptions from all associated GenBank mRNAs
  AL136797 - Homo sapiens mRNA; cDNA DKFZp434N031 (from clone DKFZp434N031).
AJ459824 - Homo sapiens mRNA for AHI1 protein, splice variant 1.
AJ606362 - Homo sapiens mRNA for AHI1 protein, splice variant 3.
AK024085 - Homo sapiens cDNA FLJ14023 fis, clone HEMBA1003645, weakly similar to TIPD PROTEIN.
BC050607 - Homo sapiens Abelson helper integration site 1, mRNA (cDNA clone IMAGE:6527938), containing frame-shift errors.
BC015019 - Homo sapiens cDNA clone IMAGE:3908210.
DQ090887 - Homo sapiens clone DKFZp686J1653 AHI1 (AHI1) mRNA, complete cds.
AK092262 - Homo sapiens cDNA FLJ34943 fis, clone NT2RP7007580.
AX747438 - Sequence 963 from Patent EP1308459.
AB462928 - Synthetic construct DNA, clone: pF1KB8588, Homo sapiens AHI1 gene for Abelson helper integration site 1, without stop codon, in Flexi system.
AM393493 - Synthetic construct Homo sapiens clone IMAGE:100001810 for hypothetical protein (AHI1 gene).
BC094800 - Homo sapiens Abelson helper integration site 1, mRNA (cDNA clone MGC:104762 IMAGE:4823262), complete cds.
AK000076 - Homo sapiens cDNA FLJ20069 fis, clone COL01816.
AK225210 - Homo sapiens mRNA for Splice isoform 2 of Q8N157 variant, clone: COL01816.
AJ459825 - Homo sapiens mRNA for AHI1 protein, splice variant 2.
BC039559 - Homo sapiens Abelson helper integration site 1, mRNA (cDNA clone IMAGE:4518666), with apparent retained intron.
JD317774 - Sequence 298798 from Patent EP1572962.
JD509205 - Sequence 490229 from Patent EP1572962.
JD422296 - Sequence 403320 from Patent EP1572962.
JD551547 - Sequence 532571 from Patent EP1572962.
JD039484 - Sequence 20508 from Patent EP1572962.
JD461212 - Sequence 442236 from Patent EP1572962.
JD517772 - Sequence 498796 from Patent EP1572962.
JD366586 - Sequence 347610 from Patent EP1572962.
JD273615 - Sequence 254639 from Patent EP1572962.
JD204630 - Sequence 185654 from Patent EP1572962.
JD352225 - Sequence 333249 from Patent EP1572962.
JD074560 - Sequence 55584 from Patent EP1572962.
JD524986 - Sequence 506010 from Patent EP1572962.
JD039260 - Sequence 20284 from Patent EP1572962.
JD348035 - Sequence 329059 from Patent EP1572962.
JD237421 - Sequence 218445 from Patent EP1572962.
JD027862 - Sequence 8886 from Patent EP1572962.
JD238545 - Sequence 219569 from Patent EP1572962.
JD249899 - Sequence 230923 from Patent EP1572962.
JD148334 - Sequence 129358 from Patent EP1572962.
JD132039 - Sequence 113063 from Patent EP1572962.
JD425493 - Sequence 406517 from Patent EP1572962.
JD425492 - Sequence 406516 from Patent EP1572962.
JD277756 - Sequence 258780 from Patent EP1572962.
AK128473 - Homo sapiens cDNA FLJ46617 fis, clone TLIVE2007000.
JD307635 - Sequence 288659 from Patent EP1572962.
JD101249 - Sequence 82273 from Patent EP1572962.
JD162890 - Sequence 143914 from Patent EP1572962.
BC065712 - Homo sapiens Abelson helper integration site 1, mRNA (cDNA clone IMAGE:6616782), partial cds.
BC029417 - Homo sapiens Abelson helper integration site 1, mRNA (cDNA clone IMAGE:4077654), partial cds.
BX648311 - Homo sapiens mRNA; cDNA DKFZp686I19131 (from clone DKFZp686I19131).
AY133243 - Homo sapiens Ahi-1 isoform I (AHI-1) mRNA, partial 5'UTR and partial cds.
JD310815 - Sequence 291839 from Patent EP1572962.
JD090213 - Sequence 71237 from Patent EP1572962.
JD500853 - Sequence 481877 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N157 (Reactome details) participates in the following event(s):

R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: AHI1_HUMAN, E1P584, NM_017651, Q504T3, Q5TCP9, Q6P098, Q6PIT6, Q8N157, Q8NDX0, Q9H0H2, uc003qgh.1, uc003qgh.2, uc003qgh.3, uc003qgh.4
UCSC ID: uc003qgh.4
RefSeq Accession: NM_017651
Protein: Q8N157 (aka AHI1_HUMAN)
CCDS: CCDS47483.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AHI1:
hepatic-fibrosis (Congenital Hepatic Fibrosis Overview)
joubert (Joubert Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.