Ahi1 Abelson helper integration site 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ahi1provided by MGI
Official Full Name: Abelson helper integration site 1provided by MGI
Primary source: MGI:MGI:87971
See related: Ensembl:ENSMUSG00000019986 AllianceGenome:MGI:87971
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ahi-1; D10Bwg0629e; 1700015F03Rik
Summary: Predicted to enable identical protein binding activity. Involved in several processes, including camera-type eye photoreceptor cell differentiation; positive regulation of cellular component organization; and positive regulation of polarized epithelial cell differentiation. Acts upstream of or within several processes, including non-motile cilium assembly; photoreceptor cell outer segment organization; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is expressed in several structures, including brain; ganglia; gonad; olfactory epithelium; and retina. Used to study Joubert syndrome 3 and nephronophthisis. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Orthologous to human AHI1 (Abelson helper integration site 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 44.9), frontal lobe adult (RPKM 34.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 A3; 10 9.75 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (20827274..20956328)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (20952232..21080429)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mitochondrial Ahi1/GR participates the regulation on mtDNA copy numbers and brain ATP levels and modulates depressive behaviors in mice.
Title: The mitochondrial Ahi1/GR participates the regulation on mtDNA copy numbers and brain ATP levels and modulates depressive behaviors in mice.
Ahi1 regulates serotonin production by the GR/ERbeta/TPH2 pathway involving sexual differences in depressive behaviors.
Title: Ahi1 regulates serotonin production by the GR/ERβ/TPH2 pathway involving sexual differences in depressive behaviors.
Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2.
Title: Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2.
The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.
Title: The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.
Ahi1 regulates the nuclear translocation of glucocorticoid receptor to modulate stress response.
Title: Ahi1 regulates the nuclear translocation of glucocorticoid receptor to modulate stress response.
Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.
Title: Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.
The results showed that AHI1 interacted with APP physically in mouse brain and transfected N2a cells despite APP genotypes.
Title: Expression of AHI1 Rescues Amyloidogenic Pathology in Alzheimer's Disease Model Cells.
Ahi1 loss impacts muscle development directly, outside of any indirect impact of cerebellar malformations, revealing a novel myogenic cause for hypotonia in JBTS.
Title: Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.
Ahi1 under-expression during neurodevelopment, as manifested by Ahi1+/- mice, renders these mice stress hyporesponsive. Ahi1 deficiency during development may attenuate the perception and/or integration of environmental stressors as a result of impaired corticolimbic connectivity or aberrant functional wiring.
Title: Effect of chronic unpredictable stress on mice with developmental under-expression of the Ahi1 gene: behavioral manifestations and neurobiological correlates.
Down-regulation of expression of the rate-limiting enzyme in dopamine biosynthesis, tyrosine hydroxylase (TH), in the midbrains of Ahi1-knockout (KO) mice is responsible for Ahi1-deficiency-mediated depressive symptoms.
Title: Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in mice.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125242 (e-PCR)
- UniSTS:162064

D10Bwg0629e (e-PCR), detects polymorphism
- UniSTS:141491

RH118331 (e-PCR)
- UniSTS:160968

D10Mit283 (e-PCR), detects polymorphism
- UniSTS:126184

D10Mit283.1 (e-PCR), detects polymorphism
- UniSTS:126185

D10Mit283.3 (e-PCR), detects polymorphism
- UniSTS:126186

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye photoreceptor cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in morphogenesis of a polarized epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of D-glucose import	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell outer segment organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of polarized epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal cone cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal rod cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle targeting	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	ISO Inferred from Sequence Orthology more info
located_in adherens junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cilium	IC Inferred by Curator more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor distal connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: jouberin

Names: abelson helper integration site 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001177776.2 → NP_001171247.1 jouberin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks multiple 5' exons but has an alternate 5' UTR exon, as compared to variant 1. The resulting isoform (2) is much shorter at the N-terminus, as compared to isoform 1.

Source sequence(s)

AC117639, AC153556

Consensus CDS

CCDS48512.1

UniProtKB/TrEMBL

E9Q552

Related

ENSMUSP00000127043.3, ENSMUST00000163505.3

Conserved Domains (1) summary

cd11812
Location:2 → 52

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
NM_001358561.2 → NP_001345490.1 jouberin isoform 3

Status: VALIDATED

Source sequence(s)

AC117639, AC153556

UniProtKB/Swiss-Prot

Q7TNV2, Q8K3E5, Q9CVY1

Conserved Domains (3) summary

cd11812
Location:898 → 948

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

sd00039
Location:462 → 502

7WD40; WD40 repeat [structural motif]

cl25539
Location:461 → 760

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001428948.1 → NP_001415877.1 jouberin isoform 4

Status: VALIDATED

Source sequence(s)

AC117639
NM_026203.4 → NP_080479.2 jouberin isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC117639, AC153556

Consensus CDS

CCDS35860.1

UniProtKB/Swiss-Prot

Q7TNV2, Q8K3E5, Q9CVY1

UniProtKB/TrEMBL

E9QP54

Related

ENSMUSP00000101164.5, ENSMUST00000105525.12

Conserved Domains (4) summary

cd11812
Location:907 → 957

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

COG2319
Location:447 → 769

WD40; WD40 repeat [General function prediction only]

sd00039
Location:462 → 502

7WD40; WD40 repeat [structural motif]

cl02567
Location:461 → 760

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...