About   Help   FAQ
Ahi1 Gene Detail
Summary
  • Symbol
    Ahi1
  • Name
    Abelson helper integration site 1
  • Synonyms
    1700015F03Rik, Ahi-1, D10Bwg0629e, Jouberin
  • Feature Type
    protein coding gene
  • IDs
    MGI:87971
    NCBI Gene: 52906
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:20828446-20956328 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 9.75 cM, cytoband A3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3514 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87971
 protein coding gene Chr10:20827274-20956328 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017057
 protein coding gene Chr10:18727061-18867224 (+)
A/J MGP_AJ_G0017035
 protein coding gene Chr10:18010484-18141414 (+)
AKR/J MGP_AKRJ_G0016999
 protein coding gene Chr10:18333825-18463481 (+)
BALB/cJ MGP_BALBcJ_G0016993
 protein coding gene Chr10:18074643-18207580 (+)
C3H/HeJ MGP_C3HHeJ_G0016818
 protein coding gene Chr10:18657475-18790600 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017455
 protein coding gene Chr10:19207992-19347090 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015160
 protein coding gene Chr10:16990778-17121377 (+)
CAST/EiJ MGP_CASTEiJ_G0016400
 protein coding gene Chr10:18563585-18706490 (+)
CBA/J MGP_CBAJ_G0016790
 protein coding gene Chr10:20076658-20218731 (+)
DBA/2J MGP_DBA2J_G0016898
 protein coding gene Chr10:17891256-18022701 (+)
FVB/NJ MGP_FVBNJ_G0016893
 protein coding gene Chr10:17636442-17765163 (+)
LP/J MGP_LPJ_G0016973
 protein coding gene Chr10:18529333-18665204 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016923
 protein coding gene Chr10:20300356-20446932 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017493
 protein coding gene Chr10:18323607-18452735 (+)
PWK/PhJ MGP_PWKPhJ_G0016185
 protein coding gene Chr10:17787460-17960585 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015968
 protein coding gene Chr10:18484162-18662558 (+)
WSB/EiJ MGP_WSBEiJ_G0016462
 protein coding gene Chr10:18417773-18549446 (+)



Homology
more
  • Human Ortholog
    AHI1, Abelson helper integration site 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AHI1, Abelson helper integration site 1
  • Synonyms
    AHI-1, dJ71N10.1, JBTS3, ORF1
  • Links
    NCBI Gene ID: 54806
    neXtProt AC: NX_Q8N157
    UniProt: Q8N157

  • Chr Location
    6q23.3; chr6:135283407-135498434 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ahi1 mouse models; 3 with human AHI1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 5 alleles in 5 genetic backgrounds
    8 phenotypes from multigenic genotypes
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    59
  • GO References
    19
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1081
  • Tissues
    160
  • cDNA Data
    13
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019986 Ensembl Gene Model | MGI Sequence Detail 127883 C57BL/6J ±  kb
    transcript ENSMUST00000105525 Ensembl | MGI Sequence Detail 4851 Not Applicable  
    polypeptide ENSMUSP00000101164 Ensembl | MGI Sequence Detail 1047 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 9
      cDNA 14
      Primer pair 3
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1221, MGD-MRK-1222, MGD-MRK-34089, MGI:106396, MGI:1914752
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 16
      Diseases 2
      Gene Ontology 19
      Phenotypes 35
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:344524 Wang B, et al., The mitochondrial Ahi1/GR participates the regulation on mtDNA copy numbers and brain ATP levels and modulates depressive behaviors in mice. Cell Commun Signal. 2023 Jan 23;21(1):21
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory