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AHI1

The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and…

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Aliases
AHI1, AHI-1, JBTS3, ORF1, dJ71N10.1, Abelson helper integration site 1
Available structures
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes4ESR
Band
6q23.3 · 10 A3|10 9.75 cM
Bgee
pituitary gland · Achilles tendon · right hemisphere of cerebellum · anterior pituitary · cerebellar vermis
BioGPS
More reference expression data
Chr.
Chromosome 6 (human) · Chromosome 10 (mouse)

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AHI1

Nodes20
Edges19
Triples105
Avg. degree1.9
Density0.1
Components1

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AHI1

Top relations

Gene ontology · 40
AHI1 → adherens junction, cell differentiation, cell junction, cell projection, cell projection organization, cell-cell junction, central nervous system development, centriole, centrosome, ciliary basal body, ciliary basal body-plasma membrane docking, cilium, cilium assembly, cloaca development, cytoplasm, cytoskeleton, cytosol, heart looping, hindbrain development, identical protein binding
Bgee · 20
AHI1 → Achilles tendon, anterior amygdaloid area, anterior pituitary, arcuate nucleus, Brodmann area 23, cerebellar vermis, dorsal tegmental nucleus, dorsomedial hypothalamic nucleus, lateral hypothalamus, median eminence, middle temporal gyrus, paraventricular nucleus of hypothalamus, pituitary gland, primary visual cortex, right hemisphere of cerebellum, suprachiasmatic nucleus, sural nerve, testicle, ventral tegmental area, ventromedial nucleus
RNA expression pattern · 20
AHI1 → Achilles tendon, anterior amygdaloid area, anterior pituitary, arcuate nucleus, Brodmann area 23, cerebellar vermis, dorsal tegmental nucleus, dorsomedial hypothalamic nucleus, lateral hypothalamus, median eminence, middle temporal gyrus, paraventricular nucleus of hypothalamus, pituitary gland, primary visual cortex, right hemisphere of cerebellum, suprachiasmatic nucleus, sural nerve, testicle, ventral tegmental area, ventromedial nucleus
Band · 2
AHI1 → 10 A3|10 9.75 cM, 6q23.3
Chr. · 2
AHI1 → Chromosome 10 (mouse), Chromosome 6 (human)
End · 2
AHI1 → 135,498,434 bp, 20,956,328 bp
related to External links · 2
AHI1 → Human AHI1, UCSC Genome Browser
Aliases · 1
AHI1 → AHI1, AHI-1, JBTS3, ORF1, dJ71N10.1, Abelson helper integration site 1
Available structures · 1
AHI1 → Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes4ESR
BioGPS · 1
AHI1 → More reference expression data

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Important terminology

gene human bp protein brain chr development band chromosome knockout mouse location expression neuropsychiatric known role plays jouberin mutations joubert

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
AHI1AliasesAHI1, AHI-1, JBTS3, ORF1, dJ71N10.1, Abelson helper integration site 11.00infobox
AHI1Available structuresAvailable structuresPDBOrtholog search: PDBe RCSB List of PDB id codes4ESR1.00infobox
AHI1Band6q23.31.00infobox
AHI1Band10 A3|10 9.75 cM1.00infobox
AHI1Bgeepituitary gland1.00infobox
AHI1BgeeAchilles tendon1.00infobox
AHI1Bgeeright hemisphere of cerebellum1.00infobox
AHI1Bgeeanterior pituitary1.00infobox
AHI1Bgeecerebellar vermis1.00infobox
AHI1Bgeetesticle1.00infobox
AHI1Bgeemiddle temporal gyrus1.00infobox
AHI1Bgeeprimary visual cortex1.00infobox
AHI1BgeeBrodmann area 231.00infobox
AHI1Bgeesural nerve1.00infobox
AHI1Bgeeventromedial nucleus1.00infobox
AHI1Bgeeparaventricular nucleus of hypothalamus1.00infobox
AHI1Bgeearcuate nucleus1.00infobox
AHI1Bgeedorsomedial hypothalamic nucleus1.00infobox
AHI1Bgeeanterior amygdaloid area1.00infobox
AHI1Bgeelateral hypothalamus1.00infobox
AHI1Bgeemedian eminence1.00infobox
AHI1Bgeesuprachiasmatic nucleus1.00infobox
AHI1Bgeeventral tegmental area1.00infobox
AHI1Bgeedorsal tegmental nucleus1.00infobox
AHI1BioGPSMore reference expression data1.00infobox
AHI1Chr.Chromosome 6 (human)1.00infobox
AHI1Chr.Chromosome 10 (mouse)1.00infobox
AHI1DatabasesNCBI: entry; OMA: entry1.00infobox
AHI1End135,498,434 bp1.00infobox
AHI1End20,956,328 bp1.00infobox

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