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Aliases for AHI1 Gene

Aliases for AHI1 Gene

  • Abelson Helper Integration Site 1 2 3 5
  • 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

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 Organelle biogenesis and maintenance. GO annotations related to this gene include identical protein binding. An important paralog of this gene is WDR44.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for AHI1 Gene

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

Genomics for AHI1 Gene

Regulatory Elements for AHI1 Gene

Enhancers for AHI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G135330 1.1 ENCODE dbSUPER 30.8 +166.6 166616 1.3 PKNOX1 CHAMP1 CBX5 ZNF207 RELB ETV6 IKZF2 CREM CBFB JUNB AHI1 ENSG00000234084 ENSG00000224374 BTRCP1
GH06G135319 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +175.0 174977 7.3 HDGF HNRNPUL1 PKNOX1 CREB3L1 ARNT WRNIP1 ZNF766 CBX5 ZNF207 KLF13 AHI1 ENSG00000224374 MIR548A2 MYB BTRCP1 ENSG00000234084
GH06G135280 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 16.4 +216.0 216039 2.4 BRD4 PKNOX1 RFX1 RNF2 ETV1 CEBPB ZNF507 POLR2H NFIC ZNF589 AHI1 ENSG00000224374 MYB GC06P135267 ENSG00000234084
GH06G135265 1.3 Ensembl ENCODE dbSUPER 22.7 +228.4 228410 6.8 CTCF TEAD4 BMI1 CEBPG RBBP5 CHD7 POLR2A EED FOS NR2F6 AHI1 ENSG00000234084 MIR548A2 MYB-AS1 MYB GC06P135267
GH06G135300 0.7 dbSUPER 39 +195.6 195590 4.0 BCOR HDAC1 RNF2 CEBPB TBX21 ARID1B POLR2H HDAC2 SMARCA4 SCRT2 AHI1 ENSG00000234084 BTRCP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AHI1 on UCSC Golden Path with GeneCards custom track

Promoters for AHI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203378 76 2201 CREB3L1 FEZF1 DMAP1 YY1 ZNF263 SP3 MEF2D GLIS1 NBN KDM1A

Genomic Location for AHI1 Gene

Chromosome:
6
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

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 StructureGene Density

RefSeq DNA sequence 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 (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).
    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

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 & Families for AHI1 Gene

Gene Families for AHI1 Gene

Protein Domains for AHI1 Gene

Suggested Antigen Peptide Sequences for AHI1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for AHI1 Gene

Function for AHI1 Gene

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.
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

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

Inhibitory RNA Products

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.

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 4
plasma membrane 1

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

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:0007417 central nervous system development ISS --
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

No Compound Related Data Available

Transcripts for AHI1 Gene

Unigene Clusters for AHI1 Gene

Abelson helper integration site 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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
Organs:
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

Primer Products

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 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia AHI1 34 35
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia AHI1 34 35
  • 87.72 (n)
mouse
(Mus musculus)
Mammalia Ahi1 34 16 35
  • 80.77 (n)
rat
(Rattus norvegicus)
Mammalia Ahi1 34
  • 80.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AHI1 35
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AHI1 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHI1 34 35
  • 64.71 (n)
lizard
(Anolis carolinensis)
Reptilia AHI1 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahi1 34
  • 61.4 (n)
zebrafish
(Danio rerio)
Actinopterygii ahi1 34 35
  • 58.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DGR2 35
  • 15 (a)
ManyToMany
-- 35
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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
rs121434350 Pathogenic, Joubert syndrome 3 (JBTS3) [MIM:608629] 135,455,750(-) TAAAG(A/T)CATCC nc-transcript-variant, reference, missense
rs121434351 Pathogenic, Joubert syndrome 3 (JBTS3) [MIM:608629] 135,433,125(-) GATAC(A/G)GATAT nc-transcript-variant, reference, missense
rs397514726 Pathogenic, Joubert syndrome 3 (JBTS3) [MIM:608629] 135,457,593(-) TCACC(A/G/T)AACTG nc-transcript-variant, reference, missense
rs772989270 Pathogenic, Joubert syndrome 3 (JBTS3) [MIM:608629] 135,438,399(+) ATGAA(A/G)TAAGG nc-transcript-variant, reference, missense
rs863225134 Pathogenic, Joubert syndrome 3 (JBTS3) [MIM:608629] 135,433,137(-) CTATG(A/C/G)TTCCA nc-transcript-variant, reference, missense

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)

Relevant External Links for AHI1 Gene

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

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

Disorders for AHI1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for AHI1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome-3
  • joubert syndrome 3
joubert syndrome 1
  • joubert syndrome
joubert syndrome with ocular anomalies
  • jbts3
ahi1-related joubert syndrome
  • joubert syndrome 3
nephronophthisis 1, juvenile
  • nephronophthisis 1
- 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:23532844}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AHI1

Genetic Association Database (GAD)
AHI1
Human Genome Epidemiology (HuGE) Navigator
AHI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHI1
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. (Hum. Mol. Genet. 2010) 3 22 46 64
  2. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PMID: 18633336) Eley L. … Sayer J.A. (Kidney Int. 2008) 3 4 22 64
  3. Association of common variants in the Joubert syndrome gene (AHI1) with autism. (PMID: 18782849) Alvarez Retuerto A.I. … Geschwind D.H. (Hum. Mol. Genet. 2008) 3 22 46 64
  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 22 46 64
  5. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (PMID: 16240161) Utsch B. … Hildebrandt F. (Pediatr. Nephrol. 2006) 2 3 22 64

Products for AHI1 Gene

  • Addgene plasmids for AHI1

Sources for AHI1 Gene

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