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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
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
    60 phenotypes from 8 alleles in 12 genetic backgrounds
    9 phenotypes from multigenic genotypes
    71 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.
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
    132
  • GO References
    23
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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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
    295
  • Tissues
    166
  • cDNA Data
    639
  • Literature Summary
    48
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
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  • SNPs within 2kb
    15 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • InterPro Domains
    IPR004827 Basic-leucine zipper domain
Molecular
Reagents
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  • All nucleic 657
    cDNA 640
    Primer pair 15
    Other 2

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-15468, MGI:1098709
References
more
  • Summaries
    All 183
    Developmental Gene Expression 48
    Diseases 1
    Gene Ontology 23
    Phenotypes 71
  • 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:242077 Mao M, et al., Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. Dis Model Mech. 2017 Apr 01;10(4):475-485
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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Send questions and comments to User Support. 		last database update
10/17/2017
MGI 6.10 		The Jackson Laboratory