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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
  • Gene Overview
    MyGene.info: TBC1D1
Location & Maps
more
  • Sequence Map
    Chr5:64156305-64351486 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      195182 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 32.80 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    TBC1D1, TBC1 domain family member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBC1D1, TBC1 domain family member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    TBC, TBC1
  • Links
    NCBI Gene ID: 23216
    neXtProt AC: NX_Q86TI0

  • Chr Location
    4p14; chr4:37891084-38139175 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 4 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    32 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
    50
  • Chemically induced (other)
    2
  • Gene trapped
    41
  • QTL
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    3
  • Genomic Mutations
    4 involving Tbc1d1
  • Incidental Mutations
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
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  • 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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026476 VEGA Gene Model | MGI Sequence Detail 195182 C57BL/6J ±  kb
transcript OTTMUST00000065459 VEGA | MGI Sequence Detail 6471 Not Applicable  
polypeptide OTTMUSP00000032630 VEGA | MGI Sequence Detail 1255 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1224 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 139
    cDNA 139

    Microarray probesets 6
Other
Accession IDs
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MGI:1916097, MGI:1930242, MGI:2140852, MGI:2141236
References
more
  • Summaries
    All 46
    Developmental Gene Expression 2
    Gene Ontology 3
    Phenotypes 32
  • Earliest
    J:61054 White RA, et al., The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4. Cytogenet Cell Genet. 2000;89(3-4):272-5
  • Latest
    J:228878 Kosfeld A, et al., Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Hum Genet. 2016 Jan;135(1):69-87

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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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory