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AHI1 peptide :: AHI1 / Jouberin Peptide

Scan QR to view Datasheet Catalog #    MBS425311 AHI1 peptide
Unit / Price
0.1 mg  /  $190 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

AHI1 / Jouberin, Peptide

 Also Known As   

AHI1 / Jouberin Immunizing Peptide

 Product Synonym Names    AHI1; AHI-1; DKFZp686J1653; FLJ14023; FLJ20069; JBTS3; ORF1; dJ71N10.1; Abelson helper integration site; jouberin; Ahi-1 isoform I; OTTHUMP00000017263; OTTHUMP00000017264; OTTHUMP00000017265; contatins SH3 and WD40 domains; Abelson helper integration sit; Jouberin; AHI1 / Jouberin
 Product Gene Name   

AHI1 peptide

[Similar Products]
 Antibody/Peptide Pairs    AHI1 / Jouberin peptide (MBS425311) is used for blocking the activity of AHI1/Jouberin antibody (MBS421446)
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Sequence    PTAESEAKVK TC
 OMIM    608629
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 Species Reactivity    Human
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 Form/Format    100ug of dried peptide
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 Preparation and Storage    Shipped at ambient temperature, store at -20 degree C
 ISO Certification    Manufactured in an ISO 9001:2015 Certified Laboratory.
 Other Notes    Small volumes of AHI1 peptide 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.
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NCBI/Uniprot data below describe general gene information for AHI1. It may not necessarily be applicable to this product.
 NCBI GI #    31542701
 NCBI GeneID    54806
 NCBI Accession #    NP_060121.3 [Other Products]
 NCBI Related Accession #    NP_001128303.1; NP_001128302.1; NP_001128304.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_017651.4 [Other Products]
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 UniProt Secondary Accession #    Q4FD35; Q504T3; Q5TCP9; Q6P098; Q6PIT6; Q8NDX0; Q9H0H2; E1P584 [Other Products]
 UniProt Related Accession #    Q8N157 [Other Products]
 Molecular Weight    70,047 Da
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 NCBI Official Full Name    jouberin isoform a
 NCBI Official Synonym Full Names    Abelson helper integration site 1
 NCBI Official Symbol    AHI1 [Similar Products]
 NCBI Official Synonym Symbols   
ORF1; AHI-1; JBTS3; dJ71N10.1
[Similar Products]
 NCBI Protein Information    jouberin
 UniProt Protein Name    Jouberin
 UniProt Synonym Protein Names   
Abelson helper integration site 1 protein homolog; AHI-1
 Protein Family    Jouberin
 UniProt Gene Name    AHI1 [Similar Products]
 UniProt Synonym Gene Names    AHI-1 [Similar Products]
 UniProt Entry Name    AHI1_HUMAN
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 NCBI Summary for AHI1    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]
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 UniProt Comments for AHI1    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: adherens junction; centriole; centrosome; cilium; cytosol; intercellular junction; nonmotile primary cilium

Molecular Function: identical protein binding; protein binding

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

Disease: Joubert Syndrome 3
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 Research Articles on AHI1    1. Homozygosity mapping and WES in the only other reported JBTS family with a homozygous C-terminal truncation (p.Trp1088Leufs*16) confirmed AHI1 as disease gene.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with AHI1 peptidePathways associated with AHI1 peptide
 Reference Product  PubMed Publications
 NPHP1 peptide  >21 publications with AHI1 and NPHP1
 CEP290 peptide  >18 publications with AHI1 and CEP290
 TMEM67 peptide  >11 publications with AHI1 and TMEM67
 CC2D2A peptide  >10 publications with AHI1 and CC2D2A
 MKS1 peptide  >5 publications with AHI1 and MKS1
 MYB peptide  >5 publications with AHI1 and MYB
 HAP1 peptide  >4 publications with AHI1 and HAP1
 B9D1 peptide  >2 publications with AHI1 and B9D1
 TMEM216 peptide  >2 publications with AHI1 and TMEM216
 B9D2 peptide  >1 publications with AHI1 and B9D2
 Products by Pathway  Pathway Diagram
 Anchoring Of The Basal Body To The Plasma Membrane Pathway antibodies  Anchoring Of The Basal Body To The Plasma Membrane Pathway Diagram
 Assembly Of The Primary Cilium Pathway antibodies  Assembly Of The Primary Cilium Pathway Diagram
 Organelle Biogenesis And Maintenance Pathway antibodies  Organelle Biogenesis And Maintenance Pathway Diagram
Diseases associated with AHI1 peptideOrgans/Tissues associated with AHI1 peptide
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >35 publications with AHI1 and Nervous System Diseases
 Abnormalities, Multiple Antibodies  >30 publications with AHI1 and Abnormalities, Multiple
 Kidney Diseases Antibodies  >26 publications with AHI1 and Kidney Diseases
 Cerebellar Diseases Antibodies  >21 publications with AHI1 and Cerebellar Diseases
 Ataxia Antibodies  >14 publications with AHI1 and Ataxia
 Schizophrenia Antibodies  >13 publications with AHI1 and Schizophrenia
 Retinal Degeneration Antibodies  >12 publications with AHI1 and Retinal Degeneration
 Joubert syndrome 3 Antibodies  >11 publications with AHI1 and Joubert syndrome 3
 Nervous System Malformations Antibodies  >8 publications with AHI1 and Nervous System Malformations
 Immune System Diseases Antibodies  >7 publications with AHI1 and Immune System Diseases
 Organ/Tissue Name  Pubmed Publications
 Brain Antibodies  >53 publications with AHI1 and Brain
 Kidney Antibodies  >32 publications with AHI1 and Kidney
 Eye Antibodies  >25 publications with AHI1 and Eye
 Blood Antibodies  >12 publications with AHI1 and Blood
 Nerve Antibodies  >11 publications with AHI1 and Nerve
 Liver Antibodies  >7 publications with AHI1 and Liver
 Bone Antibodies  >6 publications with AHI1 and Bone
 Embryonic Tissue Antibodies  >3 publications with AHI1 and Embryonic Tissue
 Bone Marrow Antibodies  >3 publications with AHI1 and Bone Marrow
 Skin Antibodies  >3 publications with AHI1 and Skin
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