Property Summary

NCBI Gene PubMed Count 54
Grant Count 115
R01 Count 74
Funding $16,272,694.44
PubMed Score 86.29
PubTator Score 130.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
psoriasis -1.900 0.000
osteosarcoma 1.084 0.005
glioblastoma -1.500 0.000
medulloblastoma, large-cell -1.500 0.000
tuberculosis -1.300 0.001
non-small cell lung cancer -1.087 0.000
intraductal papillary-mucinous adenoma (... 1.800 0.000
intraductal papillary-mucinous carcinoma... 1.500 0.001
lung cancer -1.200 0.001
pediatric high grade glioma -1.300 0.000
group 4 medulloblastoma 1.200 0.001
lung carcinoma 1.800 0.000
Pick disease -2.000 0.000
progressive supranuclear palsy -1.200 0.030
ovarian cancer -2.000 0.000

Synonym

Accession Q8N157 E1P584 Q4FD35 Q504T3 Q5TCP9 Q6P098 Q6PIT6 Q8NDX0 Q9H0H2
Symbols ORF1
AHI-1
JBTS3
dJ71N10.1

Gene

PDB

4ESR  

Gene RIF (43)

PMID Text
26541515 A homozygous mutation located in exon 7 was present in the three Joubert syndrome-affected Moroccan siblings.
25622261 Two SNPs of AHI1 (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs.
25616960 Homozygosity mapping and WES in the only other reported JBTS family with a homozygous C-terminal truncation (p.Trp1088Leufs*16) confirmed AHI1 as disease gene.
23532844 Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1.
23446755 The WD40-repeat domain of AHI-1 interacts with BCR-ABL, whereas the N-terminal region interacts with JAK2; loss of these interactions statistically significantly increased the IM sensitivity of CML cells.
23171462 Downregulation of CDKN1C is associated with poor disease outcome in patients with cutaneous T-cell lymphoma, while upregulation of AHI1 shows a weak association with aggressive disease course.
23028714 a role for AHI1 and CEP290 in multiple organs throughout development
22285701 There was a significant linear trend for increasing AHI1 gene copy number frequencies with increasing body mass index.
22183070 Data suggest that that the change in AHI1 expression during chronic myeloid leukemia (CML) therapy might be under the control of mechanisms independent from BCR-ABL1.
22123816 Ahi1 mediates feeding behavior by interacting with 5-HT(2C)R to modulate the serotonin signaling pathway.
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AA Sequence

MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSN      1 - 70
LPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQD     71 - 140
LKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRK    141 - 210
KLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDD    211 - 280
EISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIH    281 - 350
RTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEW    351 - 420
EEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANI    421 - 490
NSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKP    491 - 560
VHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS    561 - 630
RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFV    631 - 700
YTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVV    701 - 770
WNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGA    771 - 840
ANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQN    841 - 910
EPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVK    911 - 980
QRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQV    981 - 1050
DTAPTVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIK   1051 - 1120
ERSPPLSPEEKTKIEKSPAPQKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGR   1121 - 1190
KVTLIE                                                                   1191 - 1196
//

Text Mined References (55)

PMID Year Title
26541515 2015 A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
25622261 2015 The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia.
25616960 2015 Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
23532844 2013 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
23446755 2013 Targeting primitive chronic myeloid leukemia cells by effective inhibition of a new AHI-1-BCR-ABL-JAK2 complex.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23171462 2012 The role of AHI1 and CDKN1C in cutaneous T-cell lymphoma progression.
23028714 2012 Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.
22623184 2012 Molecular and structural characterization of the SH3 domain of AHI-1 in regulation of cellular resistance of BCR-ABL(+) chronic myeloid leukemia cells to tyrosine kinase inhibitors.
22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
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