Version 5.4
Homo sapiens Gene: AHI1
Summary
InnateDB Gene IDBG-96879.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AHI1
Gene Name Abelson helper integration site 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000135541
Encoded Proteins
IDBP-96881
Abelson helper integration site 1
IDBP-96885
Abelson helper integration site 1
IDBP-96887
Abelson helper integration site 1
IDBP-96889
Abelson helper integration site 1
IDBP-387402
Abelson helper integration site 1
IDBP-593041
Abelson helper integration site 1
IDBP-601620
Abelson helper integration site 1
IDBP-603206
Abelson helper integration site 1
IDBP-584542
Abelson helper integration site 1
IDBP-588004
Abelson helper integration site 1
IDBP-599130
Abelson helper integration site 1
IDBP-585003
Abelson helper integration site 1
IDBP-596167
Abelson helper integration site 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:135283532-135497776
Strand Reverse strand
Band q23.3
Transcripts
ENST00000265602 ENSP00000265602
ENST00000367800 ENSP00000356774
ENST00000367799 ENSP00000356773
ENST00000327035 ENSP00000322478
ENST00000457866 ENSP00000388650
ENST00000475846 ENSP00000435710
ENST00000498558
ENST00000487135
ENST00000488690 ENSP00000433017
ENST00000527681 ENSP00000433864
ENST00000533029
ENST00000531788 ENSP00000432167
ENST00000529865 ENSP00000434697
ENST00000524469 ENSP00000433063
ENST00000528103 ENSP00000436071
ENST00000534469 ENSP00000436516
ENST00000531527
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 30 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001738 morphogenesis of a polarized epithelium
GO:0001947 heart looping
GO:0002092 positive regulation of receptor internalization
GO:0006903 vesicle targeting
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007417 central nervous system development
GO:0010628 positive regulation of gene expression
GO:0010842 retina layer formation
GO:0016192 vesicle-mediated transport
GO:0030862 positive regulation of polarized epithelial cell differentiation
GO:0030902 hindbrain development
GO:0033365 protein localization to organelle
GO:0034613 cellular protein localization
GO:0035844 cloaca development
GO:0035845 photoreceptor cell outer segment organization
GO:0039008 pronephric nephron tubule morphogenesis
GO:0039023 pronephric duct morphogenesis
GO:0042384 cilium assembly
GO:0043066 negative regulation of apoptotic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050795 regulation of behavior
GO:0060041 retina development in camera-type eye
GO:0060271 cilium morphogenesis
GO:0065001 specification of axis polarity
GO:0070121 Kupffer's vesicle development
GO:0070986 left/right axis specification
GO:0071599 otic vesicle development
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005813 centrosome
GO:0005814 centriole
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005929 cilium
GO:0031513 nonmotile primary cilium
GO:0036038 TCTN-B9D complex
GO:0036064 ciliary basal body
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000019986
View Gene Order
ENSBTAG00000017958
Not yet available
Cross-References
SwissProt
TrEMBL E9PI51
UniProt Splice Variant
Entrez Gene 54806
UniGene Hs.386684 Hs.704550 Hs.732108
RefSeq NM_001134830 NM_001134831 NM_001134832 NM_017651
HUGO HGNC:21575
OMIM 608894
CCDS CCDS47483 CCDS47484
HPRD 10597
IMGT
EMBL AL023693 AL049552 AL133544
GenPept
RNA Seq Atlas 54806

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca