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Aliases for AHI1 Gene

Aliases for AHI1 Gene

  • Abelson Helper Integration Site 1 2 3
  • Abelson Helper Integration Site 1 Protein Homolog 3 4
  • Jouberin 2 3
  • AHI-1 3 4
  • Abelson Helper Integration Site 2
  • Contatins SH3 And WD40 Domains 3
  • DJ71N10.1 3
  • JBTS3 3
  • ORF1 3

External Ids for AHI1 Gene

Summaries for AHI1 Gene

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-3 and joubert syndrome and related disorders. An important paralog of this gene is WDR44.

UniProtKB/Swiss-Prot for AHI1 Gene

  • 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.

Gene Wiki entry for AHI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHI1 Gene

Genomics for AHI1 Gene

Genomic Location for AHI1 Gene

Start:
135,283,532 bp from pter
End:
135,497,776 bp from pter
Size:
214,245 bases
Orientation:
Minus strand

Genomic View for AHI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AHI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHI1 Gene

Regulatory Elements for AHI1 Gene

Proteins for AHI1 Gene

  • Protein details for AHI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N157-AHI1_HUMAN
    Recommended name:
    Jouberin
    Protein Accession:
    Q8N157
    Secondary Accessions:
    • E1P584
    • Q4FD35
    • Q504T3
    • Q5TCP9
    • Q6P098
    • Q6PIT6
    • Q8NDX0
    • Q9H0H2

    Protein attributes for AHI1 Gene

    Size:
    1196 amino acids
    Molecular mass:
    137115 Da
    Quaternary structure:
    • Self-associates. Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI1(2):NPHP1(2) heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI1(2):HAP1(2) heterotetramers.
    SequenceCaution:
    • Sequence=AAH29417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH65712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAI20201.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20387.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22523.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AHI1 Gene

    Alternative splice isoforms for AHI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHI1 Gene

Proteomics data for AHI1 Gene at MOPED

Post-translational modifications for AHI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AHI1 Gene

Domains for AHI1 Gene

Gene Families for AHI1 Gene

HGNC:
  • WDR :WD repeat domain containing

Protein Domains for AHI1 Gene

UniProtKB/Swiss-Prot:

AHI1_HUMAN
Domain:
  • Contains 1 SH3 domain.:
    • Q8N157
Similarity:
  • Contains 7 WD repeats.:
    • Q8N157
genes like me logo Genes that share domains with AHI1: view

Function for AHI1 Gene

Molecular function for AHI1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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) - Molecular Function for AHI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18633336
GO:0042802 identical protein binding IPI 23532844
genes like me logo Genes that share ontologies with AHI1: view
genes like me logo Genes that share phenotypes with AHI1: view

Animal Models for AHI1 Gene

MGI Knock Outs for AHI1:

miRNA for AHI1 Gene

miRTarBase miRNAs that target AHI1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AHI1 Gene

Localization for AHI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHI1 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cell junction, adherens junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AHI1 Gene COMPARTMENTS Subcellular localization image for AHI1 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for AHI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005813 centrosome IDA 18633336
GO:0005814 centriole ISS --
GO:0005911 cell-cell junction IDA 18633336
GO:0005912 adherens junction IDA 18633336
genes like me logo Genes that share ontologies with AHI1: view

Pathways for AHI1 Gene

SuperPathways for AHI1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001738 morphogenesis of a polarized epithelium ISS --
GO:0001947 heart looping ISS --
GO:0002092 positive regulation of receptor internalization ISS --
GO:0006903 vesicle targeting IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway ISS --
genes like me logo Genes that share ontologies with AHI1: view

No data available for Pathways by source for AHI1 Gene

Transcripts for AHI1 Gene

Unigene Clusters for AHI1 Gene

Abelson helper integration site 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AHI1 Gene

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:
SP6:
SP7:
SP8:

ExUns: 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c
SP1: - - -
SP2:
SP3: - - -
SP4:
SP5: - -
SP6:
SP7:
SP8:

Relevant External Links for AHI1 Gene

GeneLoc Exon Structure for
AHI1
ECgene alternative splicing isoforms for
AHI1

Expression for AHI1 Gene

mRNA expression in normal human tissues for AHI1 Gene

mRNA differential expression in normal tissues according to GTEx for AHI1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AHI1 Gene

SOURCE GeneReport for Unigene cluster for AHI1 Gene Hs.386684

mRNA Expression by UniProt/SwissProt for AHI1 Gene

Q8N157-AHI1_HUMAN
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).
genes like me logo Genes that share expressions with AHI1: view

Orthologs for AHI1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AHI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHI1 36
  • 99.25 (n)
  • 98.49 (a)
AHI1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AHI1 36
  • 87.72 (n)
  • 83.25 (a)
AHI1 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHI1 36
  • 88.44 (n)
  • 84.3 (a)
AHI1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahi1 36
  • 80.77 (n)
  • 79.81 (a)
Ahi1 16
Ahi1 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AHI1 37
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHI1 37
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahi1 36
  • 80.4 (n)
  • 78.83 (a)
chicken
(Gallus gallus)
Aves AHI1 36
  • 64.71 (n)
  • 53.16 (a)
AHI1 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHI1 37
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahi1 36
  • 61.4 (n)
  • 53.16 (a)
zebrafish
(Danio rerio)
Actinopterygii ahi1 36
  • 58.04 (n)
  • 52.72 (a)
ahi1 37
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 12 (a)
ManyToMany
DGR2 37
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToOne
Species with no ortholog for AHI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AHI1 Gene

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

Paralogs for AHI1 Gene

Paralogs for AHI1 Gene

genes like me logo Genes that share paralogs with AHI1: view

Variants for AHI1 Gene

Sequence variations from dbSNP and Humsavar for AHI1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs717120 -- 135,443,991(+) AAACA(C/T)TGAAC intron-variant
rs737561 -- 135,433,333(+) CAACA(C/T)AGCCA intron-variant
rs980318 -- 135,430,186(+) TATTT(C/T)TGTGT intron-variant
rs982412 -- 135,441,799(+) CAAGT(G/T)ATTTT intron-variant
rs1003312 -- 135,350,458(-) TGTAT(A/T)TATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AHI1 Gene

Variant ID Type Subtype PubMed ID
esv2669758 CNV Deletion 23128226
nsv521009 CNV Loss 19592680
nsv519167 CNV Loss 19592680
nsv521884 CNV Loss 19592680
esv2662853 CNV Deletion 23128226

Relevant External Links for AHI1 Gene

HapMap Linkage Disequilibrium report
AHI1
Human Gene Mutation Database (HGMD)
AHI1

Disorders for AHI1 Gene

(1) OMIM Diseases for AHI1 Gene (608894)

UniProtKB/Swiss-Prot

AHI1_HUMAN
  • 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. {ECO:0000269 PubMed:15322546, ECO:0000269 PubMed:15467982, ECO:0000269 PubMed:16453322, ECO:0000269 PubMed:22425360, ECO:0000269 PubMed:23532844}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for AHI1 Gene

Disease -log(P) Hits PubMed IDs
nphp1 96.5 18
mental retardation 60.4 1
renal disease 20.9 3

Relevant External Links for AHI1

GeneTests
AHI1
GeneReviews
AHI1
Genetic Association Database (GAD)
AHI1
Human Genome Epidemiology (HuGE) Navigator
AHI1
genes like me logo Genes that share disorders with AHI1: view

Publications for AHI1 Gene

  1. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. (PMID: 15467982) Dixon-Salazar T. … Gleeson J.G. (Am. J. Hum. Genet. 2004) 3 4 23
  2. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (PMID: 16240161) Utsch B. … Hildebrandt F. (Pediatr. Nephrol. 2006) 2 3 23
  3. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (PMID: 16453322) Valente E.M. … Gleeson J.G. (Ann. Neurol. 2006) 3 4 23
  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. (PMID: 17409309) Tory K. … Saunier S. (J. Am. Soc. Nephrol. 2007) 3 23 49
  5. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PMID: 18633336) Eley L. … Sayer J.A. (Kidney Int. 2008) 3 4 23

Products for AHI1 Gene

  • Addgene plasmids for AHI1

Sources for AHI1 Gene

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