InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AHI1

Summary

InnateDB Protein

IDBP-96885.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AHI1

Protein Name

Abelson helper integration site 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000356774

InnateDB Gene

IDBG-96879 (AHI1)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium basal body. Cell junction, adherens junction.

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.

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}.

Comments

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