Abelson helper integration site 1; Abelson helper integration site 1 protein homolog; Abelson helper integration site; AHI 1; AHI-1; Ahi1; AHI1_HUMAN; Contatins SH3 and WD40 domains; dJ71N10.1; DKFZp686J1653; FLJ14023; FLJ20069; JBTS3; Jouberin; ORF1; OTTHUMP00000017263; OTTHUMP00000017265; OTTHUMP00000234456; OTTHUMP00000234654; OTTHUMP00000234656

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

AHI1 Antibody detects endogenous levels of AHI1.

The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).

Liquid; Phosphate buffered saline, pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

1mg/ml (lot specific)

Store at -20 degree C. Stable for 12 months from date of receipt.

Manufactured in an ISO 9001:2015 Certified Laboratory.

Manufactured in a lab with traceable raw materials manufactured on site. Coordinated product portfolio of antibodies, pairs, conjugates, recombinant proteins, and immunoassay materials available, please inquire.

Small volumes of anti-AHI1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. 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. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).

Subunit Structure: Self-associates (PubMed:23532844). Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI12:NPHP12 heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI12:HAP12 heterotetramers. Interacts with RAB8A (By similarity). Interacts with CEND1 (By similarity). Interacts with CTNNB1/beta-catenin (PubMed:21623382).

Western Blot (WB)

WB: 1:500-1:2000

Western blot analysis of extracts from MCF7, using AHI1 Antibody. The lane on the left was treated with blocking peptide.

Western blot analysis of extracts from HEK-293 cells, using AHI1 Antibody. The lane on the left was treated with blocking peptide.

Observed: 137 kDa
Predicted: 138 kDa

Abelson helper integration site 1

jouberin

Jouberin

AHI-1??[Similar Products]

AHI1_HUMAN

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]

AHI1: is up-regulated at all stages of chronic myeloid leukemia (CML). Down-regulated during early differentiation of normal hematopoietic cells. The AHI-1 gene is activated by insertional mutagenesis in mouse models of leukemia. Important for cerebellar and cortical development, and axonal decussation. Mutations of the AHI-1 gene are associated with Joubert syndrome. 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. Genetic analysis indicates that it is important in the development of human-specific motor behaviors. Three alternatively spliced isoforms have been described.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 6q23.3

Cellular Component: centriole; centrosome; adherens junction; photoreceptor outer segment; nonmotile primary cilium; intercellular junction; cilium

Molecular Function: identical protein binding; protein binding

Biological Process: positive regulation of polarized epithelial cell differentiation; central nervous system development; vesicle targeting; positive regulation of receptor internalization; specification of axis polarity; vesicle-mediated transport; protein localization in organelle; cilium biogenesis; positive regulation of transcription from RNA polymerase II promoter; heart looping; morphogenesis of a polarized epithelium; transmembrane receptor protein tyrosine kinase signaling pathway; hindbrain development; negative regulation of apoptosis; regulation of behavior

Disease: Joubert Syndrome 3

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