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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]
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 Organelle biogenesis and maintenance and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is WDR62.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18633336 |
GO:0042802 | identical protein binding | IPI | 23532844 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Organelle biogenesis and maintenance |
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2 | Regulation of PLK1 Activity at G2/M Transition | ||
3 | Ectoderm Differentiation |
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 | -- |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AHI1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AHI1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AHI1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ahi1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ahi1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AHI1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AHI1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AHI1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AHI1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ahi1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ahi1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DGR2 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
438231 | Likely Pathogenic: Abnormality of the eye | 135,437,868(-) | TAAATTGAAAAGGGAT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
635321 | Uncertain Significance: Joubert syndrome 3 | 135,427,186(-) | CAGA/C | INFRAME_DELETION | |
638504 | Pathogenic: Joubert syndrome 1; Joubert syndrome 3 | 135,428,628(-) | C/A | SPLICE_DONOR_VARIANT | |
640041 | Uncertain Significance: Joubert syndrome | 135,431,246(-) | C/T | MISSENSE_VARIANT | |
645894 | Uncertain Significance: Joubert syndrome | 135,323,284(-) | T/C | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
joubert syndrome 3 |
|
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joubert syndrome 1 |
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inherited retinal disorder |
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retinitis pigmentosa |
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leber plus disease |
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