Version 5.4
Bos taurus Gene: AHI1
Summary
InnateDB Gene IDBG-633521.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AHI1
Gene Name Abelson helper integration site 1
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000017958
Encoded Proteins
IDBP-685296
Uncharacterized protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000135541:
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 9:74330947-74544060
Strand Reverse strand
Band
Transcripts
ENSBTAT00000023877 ENSBTAP00000023877
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.
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
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000135541
View Gene Order
ENSMUSG00000019986
View Gene Order
Cross-References
SwissProt
TrEMBL A7E373 E1BFN3
UniProt Splice Variant
Entrez Gene 528398
UniGene Bt.46046
RefSeq XM_001788194 XM_002690265 XM_005199415 XM_005199416 XM_005199417 XM_005199418 XM_005199419 XM_005210978 XM_005210979 XM_005210980 XM_005210981 XM_005210982
HUGO HGNC:21575
OMIM
CCDS
HPRD
IMGT
EMBL BC151742 DAAA02026720 DAAA02026721
GenPept AAI51743
RNA Seq Atlas 528398

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