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Xbp1 Gene Detail
Summary
  • Symbol
    Xbp1
  • Name
    X-box binding protein 1
  • Synonyms
    D11Ertd39e, TREB5, TREB-5, XBP-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98970
    NCBI Gene: 22433
  • Gene Overview
    MyGene.info: XBP1
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome 11, 3.61 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    XBP1, X-box binding protein 1
  • Vertebrate Orthologs
    5
  • Human Ortholog
    XBP1, X-box binding protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    TREB5, TREB-5, XBP-1, XBP2
  • Links
    NCBI Gene ID: 7494
    neXtProt AC: NX_P17861
    UniProt: P17861

  • Chr Location
    22q12.1; chr22:28794560-28800572 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Xbp1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
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
    63 phenotypes from 9 alleles in 12 genetic backgrounds
    5 phenotypes from multigenic genotypes
    83 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.
Homozygous mutants exhibit markedly impaired liver development resulting in severe anemia, necrosis of cardiac myocytes, morphological abnormalities of the neural tube, and fetal death around embryonic day 14.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000006338 VEGA Gene Model | MGI Sequence Detail 5235 C57BL/6J ±  kb
    transcript OTTMUST00000014402 VEGA | MGI Sequence Detail 2129 Not Applicable  
    polypeptide OTTMUSP00000006681 VEGA | MGI Sequence Detail 267 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      15 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR004827 Basic-leucine zipper domain
    Molecular
    Reagents
    less
    • All nucleic 658
      cDNA 641
      Primer pair 15
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15468, MGI:1098709
    References
    more
    • Summaries
      All 220
      Developmental Gene Expression 52
      Diseases 1
      Gene Ontology 23
      Phenotypes 83
    • Earliest
      J:14524 Clauss IM, et al., In situ hybridization studies suggest a role for the basic region-leucine zipper protein hXBP-1 in exocrine gland and skeletal development during mouse embryogenesis. Dev Dyn. 1993 Jun;197(2):146-56
    • Latest
      J:265034 Bartelt A, et al., Brown adipose tissue thermogenic adaptation requires Nrf1-mediated proteasomal activity. Nat Med. 2018 Mar;24(3):292-303

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory