Ahi1 Abelson helper integration site 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Ahi1provided by RGD
Full Name: Abelson helper integration site 1provided by RGD
Primary source: RGD:1303040
See related: Ensembl:ENSRNOG00000013969 AllianceGenome:RGD:1303040
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Ahi-1
Summary: Predicted to enable identical protein binding activity. Involved in several processes, including embryonic brain development; negative regulation of glucose import; and response to food. Located in cytoplasm. 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, Apr 2022]
Expression: Biased expression in Brain (RPKM 487.4), Thymus (RPKM 204.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1p12

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (17580859..17711775)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (15762485..15891213)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (16478127..16601769)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results demonstrate that AHI1 expression can be regulated through diet and suggest the novel role of AHI1 in feeding behavior.
Title: Regulation of AHI1 expression in adult rat brain: Implication in hypothalamic feeding control.

Submit: New GeneRIF Correction

General gene information

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Markers

D1Rat148 (e-PCR)
- UniSTS:118528

AW531129 (e-PCR)
- UniSTS:245079

RH131918 (e-PCR)
- UniSTS:215201

RH137467 (e-PCR)
- UniSTS:219555

RH143155 (e-PCR)
- UniSTS:232402

BE121279 (e-PCR)
- UniSTS:248053

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cloaca development	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic brain development	IEP Inferred from Expression Pattern more info	PubMed
involved_in eye photoreceptor cell development	ISO Inferred from Sequence Orthology more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in hindbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of a polarized epithelium	ISO Inferred from Sequence Orthology more info
involved_in morphogenesis of a polarized epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in otic vesicle development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within photoreceptor cell outer segment organization	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell outer segment organization	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell outer segment organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of polarized epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of polarized epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in pronephric nephron tubule morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein localization to organelle	ISO Inferred from Sequence Orthology more info
involved_in regulation of behavior	ISO Inferred from Sequence Orthology more info
involved_in regulation of behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein secretion	ISO Inferred from Sequence Orthology more info
involved_in response to food	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	ISO Inferred from Sequence Orthology more info
involved_in retina layer formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal cone cell development	ISO Inferred from Sequence Orthology more info
involved_in retinal rod cell development	ISO Inferred from Sequence Orthology more info
involved_in specification of axis polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within vesicle targeting	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of MKS complex	ISO Inferred from Sequence Orthology more info
part_of MKS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in adherens junction	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
located_in centriole	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
located_in non-motile cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor distal connecting cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: jouberin

Names: abelson helper integration site 1 protein homolog; jouberin-like

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_001002277.2 → NP_001002277.2 jouberin

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/Swiss-Prot

Q6DTM3

Related

ENSRNOP00000086069.1, ENSRNOT00000095156.1

Conserved Domains (3) summary

cd11812
Location:908 → 958

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

sd00039
Location:463 → 503

7WD40; WD40 repeat [structural motif]

cl29593
Location:462 → 761

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 ...