AHI1 Gene (Protein Coding)

Abelson Helper Integration Site 1

GC06M135283
GIFtS:
44
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 i... See more...

Aliases for AHI1 Gene

Aliases for AHI1 Gene

  • Abelson Helper Integration Site 1 2 3 5
  • Jouberin 2 3 4
  • Abelson Helper Integration Site 1 Protein Homolog 3 4
  • 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

Previous GeneCards Identifiers for AHI1 Gene

  • GC06M135540
  • GC06M135585
  • GC06M135646
  • GC06M133169

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 1. Among its related pathways are Ectoderm Differentiation and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is WDR62.

UniProtKB/Swiss-Prot Summary for AHI1 Gene

  • Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. 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. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).

Gene Wiki entry for AHI1 Gene

Additional gene information for AHI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHI1 Gene

Genomics for AHI1 Gene

GeneHancer (GH) Regulatory Elements for AHI1 Gene

Promoters and enhancers for AHI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J135496 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 781.9 +0.0 15 3.1 ZNF785 ZNF24 SP1 ZBTB40 ZBTB6 RBPJ SMARCE1 POLR2A TCF7L2 CREB1 AHI1 LINC00271 lnc-HBS1L-2 BCLAF1 ENSG00000234084 MTFR2
GH06J135499 Enhancer 0.6 ENCODE 750.6 -1.8 -1813 0.2 TEAD4 ZNF148 NCOA6 SMARCA4 ZNF512 PKNOX1 EP300 E2F5 DPF2 MYNN AHI1 lnc-HBS1L-2 BCLAF1 LINC00271 lnc-PDE7B-4
GH06J136277 Promoter 0.3 EPDnew 750 -780.2 -780185 0.1 AHI1 MTFR2 lnc-MTFR2-4-002 lnc-PDE7B-8 BCLAF1
GH06J136286 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29.5 -791.4 -791350 5.9 SIN3A SP1 ZBTB40 ZBTB6 LCORL RBPJ SMARCE1 POLR2A NR2F1 ATF1 BCLAF1 lnc-MTFR2-5 lnc-PDE7B-8 AHI1 ENSG00000234084 ENSG00000216519 HMGB1P17 MAP7
GH06J135329 Enhancer 1.1 Ensembl ENCODE dbSUPER 30.8 +167.0 166961 2 SP1 ETV6 RELA MLLT1 CREM ZBED1 IKZF1 BACH1 IKZF2 PKNOX1 BTRCP1 RF00994-955 AHI1 ENSG00000234084 ENSG00000224374
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AHI1 gene promoter:
  • Evi-1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • RFX1
  • RSRFC4

Genomic Locations for AHI1 Gene

Genomic Locations for AHI1 Gene
chr6:135,283,532-135,497,765
(GRCh38/hg38)
Size:
214,234 bases
Orientation:
Minus strand
chr6:135,604,670-135,818,914
(GRCh37/hg19)
Size:
214,245 bases
Orientation:
Minus strand

Genomic View for AHI1 Gene

Genes around AHI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHI1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AHI1 Gene

Proteins for AHI1 Gene

Products:

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  • 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 (PubMed:23532844). 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. Interacts with RAB8A (By similarity). Interacts with CEND1 (By similarity). Interacts with CTNNB1/beta-catenin (PubMed:21623382). Interacts with SPATA7 (By similarity).
    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};

    Three dimensional structures from OCA and Proteopedia for AHI1 Gene

    Alternative splice isoforms for AHI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHI1 Gene

Protein Expression for AHI1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AHI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AHI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AHI1 Gene

Domains & Families for AHI1 Gene

Gene Families for AHI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AHI1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHI1 Gene

GenScript: Design optimal peptide antigens:
  • Abelson helper integration site 1 protein homolog (AHI1_HUMAN)
  • AHI1 (Q4FD35_HUMAN)
  • Ahi-1 isoform I (Q8NER0_HUMAN)
genes like me logo Genes that share domains with AHI1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AHI1 Gene

Function for AHI1 Gene

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Molecular function for AHI1 Gene

UniProtKB/Swiss-Prot Function:
Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. 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. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).
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.

Phenotypes From GWAS Catalog for AHI1 Gene

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

Human Phenotype Ontology for AHI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AHI1 Gene

MGI Knock Outs for AHI1:

Animal Model Products

  • Taconic Biosciences Mouse Models for AHI1

CRISPR Products

Clone Products

  • Addgene plasmids for AHI1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium. {ECO:0000250 UniProtKB:Q8K3E5}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHI1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AHI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 18633336
GO:0005814 centriole ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with AHI1: view

Pathways & Interactions for AHI1 Gene

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

Pathways by source for AHI1 Gene

1 BioSystems pathway for AHI1 Gene

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:0007169 transmembrane receptor protein tyrosine kinase signaling pathway ISS --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with AHI1: view

No data available for SIGNOR curated interactions for AHI1 Gene

Drugs & Compounds for AHI1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for AHI1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for AHI1 Gene

(6) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(174) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AHI1

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AHI1 Gene

mRNA expression in normal human tissues for AHI1 Gene
mRNA expression by GTEx for AHI1 GenemRNA expression by BioGPS for AHI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for AHI1 Gene

This gene is overexpressed in Heart (54.5) and Liver (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AHI1 Gene



Protein tissue co-expression partners for AHI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AHI1 Gene:

AHI1

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).

Evidence on tissue expression from TISSUES for AHI1 Gene

  • Intestine(4.2)
  • Bone marrow(4.1)
  • Nervous system(3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AHI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • penis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns 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 33 32
  • 99.25 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AHI1 33 32
  • 88.44 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia AHI1 33 32
  • 87.72 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ahi1 17 33 32
  • 80.77 (n)
rat
(Rattus norvegicus)
 Mammalia Ahi1 32
  • 80.4 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia AHI1 33
  • 49 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia AHI1 33
  • 47 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AHI1 33 32
  • 64.71 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia AHI1 33
  • 43 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ahi1 32
  • 61.4 (n)
zebrafish
(Danio rerio)
 Actinopterygii ahi1 33 32
  • 58.04 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DGR2 33
  • 15 (a)
 ManyToMany
-- 33
  • 12 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 40 (a)
 OneToOne
Species where no ortholog for AHI1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AHI1: view image

Paralogs for AHI1 Gene

Paralogs for AHI1 Gene

(5) SIMAP similar genes for AHI1 Gene using alignment to 9 proteins:

  • AHI1_HUMAN
  • E9PI51_HUMAN
  • E9PML3_HUMAN
  • G8JLN6_HUMAN
  • H0Y343_HUMAN
  • H0YDL1_HUMAN
  • H0YE01_HUMAN
  • H0YEF1_HUMAN
  • Q9NQN3_HUMAN
genes like me logo Genes that share paralogs with AHI1: view

Variants for AHI1 Gene

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Sequence variations from dbSNP and Humsavar for AHI1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1052502 benign, Joubert syndrome 135,285,427(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs113052089 likely-benign, Joubert syndrome 135,497,680(-) C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs113317693 likely-benign, benign, not provided, not specified, Joubert syndrome 135,455,937(-) A/C intron_variant
rs114319588 benign-likely-benign, not specified 135,457,723(-) T/C intron_variant
rs115338154 benign-likely-benign, benign, not specified, Joubert syndrome 135,290,432(-) A/G 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv2662853 CNV deletion 23128226
esv2669758 CNV deletion 23128226
esv3393967 CNV insertion 20981092
esv3394008 CNV insertion 20981092
esv3396858 CNV insertion 20981092
esv3571413 CNV loss 25503493
esv3571414 CNV loss 25503493
esv3610893 CNV loss 21293372
esv3610895 CNV loss 21293372
esv3610896 CNV loss 21293372
nsv1022062 CNV loss 25217958
nsv1034621 CNV gain 25217958
nsv519167 CNV loss 19592680
nsv521009 CNV loss 19592680
nsv521884 CNV loss 19592680
nsv950513 CNV duplication 24416366

Variation tolerance for AHI1 Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AHI1 Gene

Human Gene Mutation Database (HGMD)
AHI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHI1 Gene

Disorders for AHI1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for AHI1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AHI1 in MalaCards View complete list of genes associated with diseases

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:16155189, ECO:0000269 PubMed:16453322, ECO:0000269 PubMed:21623382, ECO:0000269 PubMed:23532844}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AHI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AHI1: view

No data available for Genatlas for AHI1 Gene

Publications for AHI1 Gene

  1. A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. (PMID: 20071346) Ingason A … Rujescu D (Human molecular genetics 2010) 3 23 43 56
  2. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PMID: 18633336) Eley L … Sayer JA (Kidney international 2008) 3 4 23 56
  3. Association of common variants in the Joubert syndrome gene (AHI1) with autism. (PMID: 18782849) Alvarez Retuerto AI … Geschwind DH (Human molecular genetics 2008) 3 23 43 56
  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 (Journal of the American Society of Nephrology : JASN 2007) 3 23 43 56
  5. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (PMID: 16240161) Utsch B … Hildebrandt F (Pediatric nephrology (Berlin, Germany) 2006) 2 3 23 56

ExternalLinks

View latest publications for AHI1 gene in Mastermind

Products for AHI1 Gene

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Sources for AHI1 Gene