InnateDB Protein
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IDBP-584542.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AHI1
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Protein Name
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Abelson helper integration site 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432167
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InnateDB Gene
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IDBG-96879 (AHI1)
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Protein Structure
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Function |
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. {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium basal body. Cell junction, adherens junction.
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Disease Associations |
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:0000269PubMed:15322546, ECO:0000269PubMed:15467982, ECO:0000269PubMed:16453322, ECO:0000269PubMed:22425360, ECO:0000269PubMed:23532844}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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). {ECO:0000269PubMed:14751929, ECO:0000269PubMed:15322546, ECO:0000269PubMed:18633336}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
6
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
30 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8N157
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PhosphoSite |
PhosphoSite-Q8N157
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
54806
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UniGene |
Hs.732108
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RefSeq |
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HUGO |
HGNC:21575
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OMIM |
608894
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CCDS |
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HPRD |
10597
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IMGT |
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EMBL |
AJ459824
AJ459825
AJ606362
AK092262
AL023693
AL049552
AL133544
AL136797
BC029417
BC065712
BC094800
CH471051
DQ090887
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GenPept |
AAH29417
AAH65712
AAH94800
AAY99645
BAC03840
CAB66731
CAD30871
CAD30872
CAE54481
CAI20201
CAI20387
CAI22523
EAW47962
EAW47963
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