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Gene Detail
Abelson helper integration site 1
Synonyms 1700015F03Rik, Ahi-1, D10Bwg0629e, Jouberin
Feature Type protein coding gene
Genetic Map
Chromosome 10
9.75 cM, cytoband A3
Detailed Genetic Map ± 1 cM

Mapping data(10)
Sequence Map
Chr10:20952547-21080428 bp, + strand
From Ensembl annotation of GRCm38

  127882 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:9762  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ahi1

Human Homolog AHI1, Abelson helper integration site 1
NCBI Gene ID 54806
neXtProt AC  NX_Q8N157
Human Synonyms  AHI-1, dJ71N10.1, JBTS3, ORF1
Human Chr (Location)  6q23.3; chr6:135283532-135497765 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human AHI1
alleles, and
All mutations/alleles(21) : Gene trapped(14) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology.
Human Diseases Modeled Using Mouse Ahi1 (1)    Alleles Annotated to Human Diseases(1)   
Ahi1 interacts with 201 markers (Mir1b, Mir7-1, Mir10a, ...)
Gene Ontology
All GO classifications: (46 annotations)
Process cell projection organization, cellular protein localization, ...
Component adherens junction, cell-cell junction, ...
Function protein binding
External Resources: FuncBase
Literature Summary: (8 records)
Data Summary: Results (346)    Tissues (148)    Images (55)
Theiler Stages: 17, 20, 22, 23, 24, 26, 27, 28
Assay TypeResults
Immunohistochemistry 248
RNA in situ 60
Western blot 38
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(24) Genomic(9) cDNA(13) Primer pair(1) Other(1)
Microarray probesets(6)
Other database
Ensembl Gene ModelENSMUSG00000019986 (Evidence)
Entrez Gene52906 (Evidence)
DFCITC1576348, TC1596500
DoTSDT.101337432, DT.101391190, DT.101391192, DT.110594344, DT.524764, DT.55274516, DT.94156163
NIA Mouse Gene IndexU154298
Consensus CDS ProjectCCDS35860.1, CCDS48512.1
International Mouse Knockout Project StatusAhi1
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019986 Ensembl Gene Model | MGI Sequence Detail 127882 C57BL/6J ±  kb
transcript ENSMUST00000105525 Ensembl | MGI Sequence Detail 4850 Not Applicable 
polypeptide ENSMUSP00000101164 Ensembl | MGI Sequence Detail 1047 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(9) UniProt(6)
Polymorphisms RFLP(3) : SNPs within 2kb(784 from dbSNP Build 137)
InterPro IPR001452 Src homology-3 domain
InterPro IPR001680 WD40 repeat
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000003855 jouberin
References (Earliest) J:9403 Poirier Y, et al., Identification of a common helper provirus integration site in Abelson murine leukemia virus-induced lymphoma DNA. J Virol. 1988 Nov;62(11):3985-92
(Latest) J:198594 Tuz K, et al., The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J Biol Chem. 2013 May 10;288(19):13676-94
All references(59)
Disease annotation references (1)
accession IDs
MGD-MRK-1221, MGD-MRK-1222, MGD-MRK-34089, MGI:106396, MGI:1914752

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory