About   Help   FAQ
Tbl1xr1 Gene Detail
Summary
  • Symbol
    Tbl1xr1
  • Name
    transducin (beta)-like 1X-linked receptor 1
  • Synonyms
    8030499H02Rik, A630076E03Rik, C21, C230089I12Rik, DC42, Ira1, TBLR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2441730
    NCBI Gene: 81004
  • Gene Overview
    MyGene.info: TBL1XR1
Location & Maps
more
  • Sequence Map
    Chr3:22076652-22216594 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      139943 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 7.58 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TBL1XR1, transducin beta like 1 X-linked receptor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TBL1XR1, transducin beta like 1 X-linked receptor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C21, DC42, IRA1, MRD41, TBLR1
  • Links
    NCBI Gene ID: 79718
    neXtProt AC: NX_Q9BZK7

  • Chr Location
    3q26.32; chr3:177020754-177197260 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human TBL1XR1 associations

Human Disease Mouse Models
       Fitzsimmons-Guilbert Syndrome   OMIM: 270710
Mental Retardation, Autosomal Dominant 41; MRD41   OMIM: 616944
Pierpont Syndrome; PRPTS   OMIM: 602342
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 1 allele in 1 genetic background
    9 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
    443
  • Gene trapped
    439
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Tbl1xr1
  • Incidental Mutations
Mice homozygous for a conditional allele activated in adipose tissue exhibit increased body weight, and total body fat and increased susceptibility to diet-induced obesity and impaired glucose homeostasis.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000051127 VEGA Gene Model | MGI Sequence Detail 139943 C57BL/6J ±  kb
transcript OTTMUST00000129556 VEGA | MGI Sequence Detail 8237 Not Applicable  
polypeptide OTTMUSP00000069583 VEGA | MGI Sequence Detail 514 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    498 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 13
    cDNA 13

    Microarray probesets 7
Other
Accession IDs
less
MGI:2139993, MGI:2444715
References
more
  • Summaries
    All 35
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 9
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:198124 Rohm M, et al., Transcriptional cofactor TBLR1 controls lipid mobilization in white adipose tissue. Cell Metab. 2013 Apr 2;17(4):575-85

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/20/2016
MGI 6.05
The Jackson Laboratory