Abelson Helper Integration Site 1 Proteins (AHI1)

AHI1 is apparently required for both cerebellar and cortical development in humans. Additionally we are shipping AHI1 Antibodies (54) and AHI1 Kits (3) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
AHI1 54806 Q8N157
AHI1 52906  
Rat AHI1 AHI1 308923 Q6DTM3
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Top AHI1 Proteins at antibodies-online.com

Showing 3 out of 3 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
$11,073.30
Details
Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
$11,073.30
Details
HOST_Wheat germ Human GST tag 10 μg Log in to see 11 to 12 Days
$405.71
Details

AHI1 Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,
,
Mouse (Murine)

More Proteins for Abelson Helper Integration Site 1 (AHI1) Interaction Partners

Zebrafish Abelson Helper Integration Site 1 (AHI1) interaction partners

  1. We cloned the full cDNA sequence of Ahi-1 homologous in zebrafish.RT-PCR reveal that ZAhi-1 expressed highest in the mature gonad. In situ hybridization results of zebrafish gonad show that ZAhi-1 only expressed in the early stages' gamete cells.[ZAhi-1]

  2. a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.

  3. Results describe spatiotemporal expression patterns of AHI1 and orthologs throughout development, in human, mouse, and zebrafish, and suggest roles for AHI1 in neurodevelopmental processes behind most of the neuroanatomical defects in Joubert syndrome.

Human Abelson Helper Integration Site 1 (AHI1) interaction partners

  1. introduction of equivalent stop codons in the full-length human L1 sequence leads to the expression of truncated ORF1 proteins.

  2. Aicardi-Goutieres syndrome protein TREX1 (show TREX1 Proteins) suppresses L1 and maintains genome integrity through exonuclease (show EXO1 Proteins)-independent ORF1p depletion.

  3. We observed that a cis (show CISH Proteins)-eQTL (show EQTN Proteins) of AHI1, rs11154801, showed significant association with AHI1 expression. Genetic evidence exhibited that rs11154801 was significantly associated with schizophrenia risk in both the discovery and the replication sample. These results suggested that AHI1 is likely a risk gene for schizophrenia, at least in European populations.

  4. We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. The variant in the AHI1 gene, c.A3257G (p.E1086G), and the altered amino acid had a damaging effect on the encoded protein predicted by Polyphen2.

  5. 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.

  6. Two SNPs of AHI1 (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs.

  7. Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1.

  8. The WD40-repeat domain of AHI-1 interacts with BCR-ABL, whereas the N-terminal region interacts with JAK2; loss of these interactions statistically significantly increased the IM sensitivity of CML cells.

  9. Downregulation of CDKN1C (show CDKN1C Proteins) is associated with poor disease outcome in patients with cutaneous T-cell lymphoma, while upregulation of AHI1 shows a weak association with aggressive disease course.

  10. a role for AHI1 and CEP290 in multiple organs throughout development

Mouse (Murine) Abelson Helper Integration Site 1 (AHI1) interaction partners

  1. The current research describes multi-faceted effort to link early variations in Ahi1 expression with long-term consequences for functional brain networks and cognitive-emotional phenotypes.

  2. Our findings suggest that Ahi1 KO mice can be used for studying the mechanisms of depression and screening therapeutic targets.

  3. Jouberin is expressed in mESCs and localized at the primary cilium. Jouberin controls mouse embryonic stem cells early neural differentiation.

  4. Results suggest that under-expression of the Ahi1 gene during neurodevelopment brings about relative resilience to various stressors during adulthood

  5. The results of this study suggest that Cend1 (show CEND1 Proteins) is involved in Ahi1 mutation-induced neuropathology.

  6. Hypothalamic Ahi1 functions as a sensor of insulin (show INS Proteins) signaling.

  7. a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.

  8. Results indicate that the Hap1 (show HAP1 Proteins)-Ahi1 complex in the brainstem works as a sensor for insulin (show INS Proteins) signals in feeding control.

  9. Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB (show NTRK2 Proteins) signaling with a depressive phenotype.

  10. The retinal degeneration observed in Ahi1(-/-) mice recapitulates aspects of the retinal phenotype observed in patients with Joubert syndrome and suggests the importance of Ahi1 in photoreceptor function.

AHI1 Protein Profile

Protein Summary

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.

Gene names and symbols associated with AHI1

  • Abelson helper integration site 1 (AHI1)
  • Abelson helper integration site 1 (ahi1)
  • Abelson helper integration site 1 (Ahi1)
  • 1700015F03Rik protein
  • Ahi-1 protein
  • AHI1 protein
  • D10Bwg0629e protein
  • dJ71N10.1 protein
  • JBTS3 protein
  • ORF1 protein

Protein level used designations for AHI1

Abelson helper integration site 1 , jouberin , ZAhi-1 , jouberin-like , abelson helper integration site 1 protein homolog , contatins SH3 and WD40 domains , abelson helper integration site 1 protein

GENE ID SPECIES
472132 Pan troglodytes
562701 Danio rerio
706412 Macaca mulatta
100073172 Equus caballus
100408138 Callithrix jacchus
100339239 Oryctolagus cuniculus
100552011 Anolis carolinensis
100590801 Nomascus leucogenys
100617670 Monodelphis domestica
54806 Homo sapiens
52906 Mus musculus
308923 Rattus norvegicus
476212 Canis lupus familiaris
100514806 Sus scrofa
528398 Bos taurus
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