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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:5520659-5525893 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 3.61 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    15 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98970
 protein coding gene Chr11:5520641-5525993 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018001
 protein coding gene Chr11:2581606-2589210 (+)
A/J MGP_AJ_G0017974
 protein coding gene Chr11:2489640-2494876 (+)
AKR/J MGP_AKRJ_G0017938
 protein coding gene Chr11:2623456-2628692 (+)
BALB/cJ MGP_BALBcJ_G0017942
 protein coding gene Chr11:2478876-2484688 (+)
C3H/HeJ MGP_C3HHeJ_G0017755
 protein coding gene Chr11:2495669-2500935 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018394
 protein coding gene Chr11:2652542-2657804 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016052
 protein coding gene Chr11:2381004-2386192 (+)
CAST/EiJ MGP_CASTEiJ_G0017317
 protein coding gene Chr11:2451924-2461861 (+)
CBA/J MGP_CBAJ_G0017730
 protein coding gene Chr11:2975968-2982741 (+)
DBA/2J MGP_DBA2J_G0017840
 protein coding gene Chr11:2388014-2393463 (+)
FVB/NJ MGP_FVBNJ_G0017832
 protein coding gene Chr11:2429544-2434804 (+)
LP/J MGP_LPJ_G0017911
 protein coding gene Chr11:2658152-2663427 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017858
 protein coding gene Chr11:2608992-2615438 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018434
 protein coding gene Chr11:2606083-2611575 (+)
PWK/PhJ MGP_PWKPhJ_G0017097
 protein coding gene Chr11:2412744-2425778 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016894
 protein coding gene Chr11:2596670-2601935 (+)
WSB/EiJ MGP_WSBEiJ_G0017371
 protein coding gene Chr11:2466091-2472014 (+)



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
less
  • Phenotype Summary
    66 phenotypes from 9 alleles in 13 genetic backgrounds
    6 phenotypes from multigenic genotypes
    95 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
less
  • All GO Annotations
    135
  • GO References
    23
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
    318
  • Tissues
    178
  • cDNA Data
    641
  • Literature Summary
    59
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020484 Ensembl Gene Model | MGI Sequence Detail 5235 C57BL/6J ±  kb
    transcript ENSMUST00000063084 Ensembl | MGI Sequence Detail 2129 Not Applicable  
    polypeptide ENSMUSP00000054852 Ensembl | MGI Sequence Detail 267 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR004827 Basic-leucine zipper domain
    Molecular
    Reagents
    less
    • All nucleic 660
      cDNA 642
      Primer pair 16
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15468, MGI:1098709
    References
    more
    • Summaries
      All 242
      Developmental Gene Expression 59
      Diseases 1
      Gene Ontology 23
      Phenotypes 95
    • 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:277397 Pirog KA, et al., XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease. PLoS Genet. 2019 Jul;15(7):e1008215
    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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    12/03/2019
    MGI 6.14     		The Jackson Laboratory