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Tbc1d1 Gene Detail
Summary
  • Symbol
    Tbc1d1
  • Name
    TBC1 domain family, member 1
  • Synonyms
    1110062G02Rik, mKIAA1108, Nob1, Nobq1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889508
    NCBI Gene: 57915
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:64313648-64508829 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 32.80 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1224 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889508
 protein coding gene Chr5:64313648-64508829 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029566
 protein coding gene Chr5:63731455-63937476 (+)
A/J MGP_AJ_G0029534
 protein coding gene Chr5:61355618-61564918 (+)
AKR/J MGP_AKRJ_G0029482
 protein coding gene Chr5:63274509-63480885 (+)
BALB/cJ MGP_BALBcJ_G0029543
 protein coding gene Chr5:62035269-62236453 (+)
C3H/HeJ MGP_C3HHeJ_G0029266
 protein coding gene Chr5:63641465-63846746 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029997
 protein coding gene Chr5:66373674-66582941 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027237
 protein coding gene Chr5:57455789-57670568 (+)
CAST/EiJ MGP_CASTEiJ_G0028674
 protein coding gene Chr5:62710580-62920547 (+)
CBA/J MGP_CBAJ_G0029235
 protein coding gene Chr5:68502236-68728171 (+)
DBA/2J MGP_DBA2J_G0029381
 protein coding gene Chr5:61385174-61584459 (+)
FVB/NJ MGP_FVBNJ_G0029341
 protein coding gene Chr5:60562143-60764208 (+)
LP/J MGP_LPJ_G0029466
 protein coding gene Chr5:64192667-64397638 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029369
 protein coding gene Chr5:71423587-71648016 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030030
 protein coding gene Chr5:62966693-63174108 (+)
PWK/PhJ MGP_PWKPhJ_G0028398
 protein coding gene Chr5:60355146-60557654 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028232
 protein coding gene Chr5:62313528-62519504 (+)
WSB/EiJ MGP_WSBEiJ_G0028755
 protein coding gene Chr5:63180812-63389377 (+)



Homology
more
  • Human Ortholog
    TBC1D1, TBC1 domain family member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBC1D1, TBC1 domain family member 1
  • Synonyms
    TBC, TBC1
  • Links
    NCBI Gene ID: 23216
    neXtProt AC: NX_Q86TI0
    UniProt: Q86TI0

  • Chr Location
    4p14; chr4:37891084-38139175 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 4 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    43 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 homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    4
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
non-membrane-bounded 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
    771
  • Tissues
    39
  • cDNA Data
    140
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 57915 NCBI Gene Model | MGI Sequence Detail 195182 C57BL/6J ±  kb
    transcript NM_001310611 RefSeq | MGI Sequence Detail 5662 ZRU/MplStud  
    polypeptide Q60949 UniProt | EBI | MGI Sequence Detail 1255 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 141
      cDNA 140
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1916097, MGI:1930242, MGI:2140852, MGI:2141236
    References
    more
    • Summaries
      All 92
      Developmental Gene Expression 3
      Gene Ontology 4
      Phenotypes 43
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:331167 Zhang Z, et al., TBC1Domain Family Member 25 deficiency aggravates cerebral ischemia-reperfusion injury via TAK1-JNK/p38 pathway. J Neurochem. 2022 Feb;160(3):392-411
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory