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Abi1 Gene Detail
Summary
  • Symbol
    Abi1
  • Name
    abl-interactor 1
  • Synonyms
    E3B1, Ssh3bp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104913
    NCBI Gene: 11308
  • Gene Overview
    MyGene.info: ABI1
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:22940073-23040241 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 15.18 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    167 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104913
 protein coding gene Chr2:22939989-23040241 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025394
 protein coding gene Chr2:20678220-20781318 (-)
A/J MGP_AJ_G0025372
 protein coding gene Chr2:19834422-19942591 (-)
AKR/J MGP_AKRJ_G0025341
 protein coding gene Chr2:20549161-20650246 (-)
BALB/cJ MGP_BALBcJ_G0025367
 protein coding gene Chr2:19952016-20049892 (-)
C3H/HeJ MGP_C3HHeJ_G0025128
 protein coding gene Chr2:20450373-20550642 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025811
 protein coding gene Chr2:21277199-21378051 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023225
 protein coding gene Chr2:18926460-19019034 (-)
CAST/EiJ MGP_CASTEiJ_G0024591
 protein coding gene Chr2:20375697-20480101 (-)
CBA/J MGP_CBAJ_G0025106
 protein coding gene Chr2:22090070-22203444 (-)
DBA/2J MGP_DBA2J_G0025239
 protein coding gene Chr2:19736358-19832685 (-)
FVB/NJ MGP_FVBNJ_G0025201
 protein coding gene Chr2:19521001-19617169 (-)
LP/J MGP_LPJ_G0025325
 protein coding gene Chr2:20610146-20711582 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025232
 protein coding gene Chr2:22131627-22240746 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025870
 protein coding gene Chr2:20430768-20543869 (-)
PWK/PhJ MGP_PWKPhJ_G0024340
 protein coding gene Chr2:19558079-19655307 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024140
 protein coding gene Chr2:20556785-20822943 (-)
WSB/EiJ MGP_WSBEiJ_G0024661
 protein coding gene Chr2:20573097-20673584 (-)



Homology
more
  • Human Ortholog
    ABI1, abl interactor 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ABI1, abl interactor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABI-1, ABLBP4, E3B1, NAP1BP, SSH3BP, SSH3BP1
  • Links
    NCBI Gene ID: 10006
    neXtProt AC: NX_Q8IZP0
    UniProt: Q8IZP0

  • Chr Location
    10p12.1; chr10:26746596-26861087 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    13 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    39
  • GO References
    20
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    98
  • Tissues
    48
  • cDNA Data
    18
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000058835 Ensembl Gene Model | MGI Sequence Detail 100169 C57BL/6J ±  kb
    transcript ENSMUST00000123948 Ensembl | MGI Sequence Detail 3067 Not Applicable  
    polypeptide ENSMUSP00000118491 Ensembl | MGI Sequence Detail 481 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 19
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-29067
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 6
      Gene Ontology 20
      Phenotypes 13
    • Earliest
      J:29673 Shi Y, et al., Abl-interactor-1, a novel SH3 protein binding to the carboxy-terminal portion of the Abl protein, suppresses v-abl transforming activity. Genes Dev. 1995 Nov 1;9(21):2583-97
    • Latest
      J:269936 Chorzalska A, et al., Bone marrow-specific loss of ABI1 induces myeloproliferative neoplasm with features resembling human myelofibrosis. Blood. 2018 Nov 8;132(19):2053-2066
    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
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    Send questions and comments to User Support.     		last database update
    10/08/2019
    MGI 6.14     		The Jackson Laboratory