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Stub1 Gene Detail
Summary
  • Symbol
    Stub1
  • Name
    STIP1 homology and U-Box containing protein 1
  • Synonyms
    0610033N24Rik, 2210017D18Rik, 2310040B03Rik, CHIP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891731
    NCBI Gene: 56424
  • Gene Overview
    MyGene.info: STUB1
Location & Maps
more
  • Sequence Map
    Chr17:25830636-25833361 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2726 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.93 cM, cytoband B1
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    STUB1, STIP1 homology and U-box containing protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    STUB1, STIP1 homology and U-box containing protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CHIP, HSPABP2, NY-CO-7, SCAR16, SDCCAG7, UBOX1
  • Links
    NCBI Gene ID: 10273
    neXtProt AC: NX_Q9UNE7

  • Chr Location
    16p13.3; chr16:680111-682768 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Stub1 mouse models; 1 with human STUB1 associations

Human Disease Mouse Models
       Gordon Holmes Syndrome; GDHS   OMIM: 212840 View 1 model
       Spinocerebellar Ataxia, Autosomal Recessive 16; SCAR16   OMIM: 615768
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    21 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.
  • All Mutations and Alleles
    11
  • Gene trapped
    1
  • Radiation induced
    2
  • Targeted
    7
  • Transgenic
    1
  • Genomic Mutations
    2 involving Stub1
  • Incidental Mutations
Homozygous null mice develop normally but are susceptible to stress-induced apoptosis of multiple organs. Increased peri- and postnatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 56424 NCBI Gene Model | MGI Sequence Detail 2726 C57BL/6J ±  kb
transcript NM_019719 RefSeq | MGI Sequence Detail 1672 C57BL/6  
polypeptide Q9WUD1 UniProt | EBI | MGI Sequence Detail 304 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    16 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 11

    Microarray probesets 4
Other
Accession IDs
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MGI:1913330, MGI:1916886, MGI:1917365, MGI:2147033
References
more
  • Summaries
    All 59
    Diseases 1
    Gene Ontology 11
    Phenotypes 21
  • Earliest
    J:64910 Ballinger CA, et al., Identification of CHIP, a novel tetratricopeptide repeat-containing protein that interacts with heat shock proteins and negatively regulates chaperone functions. Mol Cell Biol. 1999 Jun;19(6):4535-45
  • Latest
    J:206229 Shi CH, et al., Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet. 2014 Feb 15;23(4):1013-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory