Ahi1
Gene Detail

Symbol Name ID

Ahi1 Abelson helper integration site 1 MGI:87971

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(11)

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

Vertebrate homology

HomoloGene:9762  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ahi1

Human homologs

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; chr6:135605110-135818903 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human AHI1

Alleles and phenotypes

All alleles(20) : Targeted(6) Gene trapped(14)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (45 annotations)

Process	cell projection organization, cellular protein localization, ...
Component	adherens junction, cell-cell junction, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (60)    Tissues (9)    Images (22)
Theiler Stages: 23

Assay Type	Results
RNA in situ	60

cDNA source data(105)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(117) Genomic(9) cDNA(106) Primer pair(1) Other(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000019986 (Evidence)
Entrez Gene	52906 (Evidence)
UniGene	253280
DFCI	TC1576348, TC1596500
DoTS	DT.101337432, DT.101391190, DT.101391192, DT.110594344, DT.524764, DT.55274516, DT.94156163
NIA Mouse Gene Index	U154298
Consensus CDS Project	CCDS35860.1, CCDS48512.1
International Mouse Knockout Project Status	Ahi1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000019986	Ensembl Gene Model | MGI Sequence Detail	127882	C57BL/6J
transcript	ENSMUST00000105525	Ensembl | MGI Sequence Detail	4850	Not Applicable
polypeptide	ENSMUSP00000101164	Ensembl | MGI Sequence Detail	1047	Not Applicable

All sequences(46) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(3) : SNPs(657 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:184660 Kvajo M, et al., Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience. 2012 Jun 1;211:136-64
All references(57)

Other accession IDs

MGD-MRK-1221, MGD-MRK-1222, MGD-MRK-34089, MGI:106396, MGI:1914752