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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
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:22130816-22270758 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 7.58 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2932 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2441730
 protein coding gene Chr3:22130756-22270758 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027104
 protein coding gene Chr3:19340842-19487469 (+)
A/J MGP_AJ_G0027064
 protein coding gene Chr3:19232903-19375057 (+)
AKR/J MGP_AKRJ_G0027033
 protein coding gene Chr3:19438594-19580386 (+)
BALB/cJ MGP_BALBcJ_G0027076
 protein coding gene Chr3:18910897-19053011 (+)
C3H/HeJ MGP_C3HHeJ_G0026817
 protein coding gene Chr3:19428929-19577680 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027521
 protein coding gene Chr3:20469052-20620351 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024883
 protein coding gene Chr3:17762250-17915099 (+)
CAST/EiJ MGP_CASTEiJ_G0026272
 protein coding gene Chr3:19303607-19456891 (+)
CBA/J MGP_CBAJ_G0026795
 protein coding gene Chr3:20999067-21157839 (+)
DBA/2J MGP_DBA2J_G0026929
 protein coding gene Chr3:18799176-18939776 (+)
FVB/NJ MGP_FVBNJ_G0026897
 protein coding gene Chr3:18403727-18544289 (+)
LP/J MGP_LPJ_G0027041
 protein coding gene Chr3:19948270-20097080 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026918
 protein coding gene Chr3:23079664-23230877 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027581
 protein coding gene Chr3:19176941-19323675 (+)
PWK/PhJ MGP_PWKPhJ_G0026005
 protein coding gene Chr3:18467374-18611387 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025814
 protein coding gene Chr3:18884046-19026286 (+)
WSB/EiJ MGP_WSBEiJ_G0026345
 protein coding gene Chr3:19186760-19333310 (+)



Homology
more
  • Human Ortholog
    TBL1XR1, TBL1X/Y related 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBL1XR1, TBL1X/Y related 1
  • Synonyms
    C21, DC42, IRA1, MRD41, TBLR1
  • Links
    NCBI Gene ID: 79718
    neXtProt AC: NX_Q9BZK7
    UniProt: Q9BZK7

  • Chr Location
    3q26.32; chr3:177019340-177228000 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tbl1xr1 mouse models; 2 with human TBL1XR1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 5 alleles in 4 genetic backgrounds
    5 phenotypes from multigenic genotypes
    20 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.
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. B-cell-specific homozygous KO in a BCL2 overexpressing background leads to increased extra-nodal lymphoma incidence.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    717
  • Tissues
    7
  • cDNA Data
    14
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027630 Ensembl Gene Model | MGI Sequence Detail 139943 C57BL/6J ±  kb
    transcript ENSMUST00000193734 Ensembl | MGI Sequence Detail 8237 Not Applicable  
    polypeptide ENSMUSP00000142184 Ensembl | MGI Sequence Detail 514 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2139993, MGI:2444715
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 10
      Phenotypes 20
    • Earliest
      J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory