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Tubb1 Gene Detail
Summary
  • Symbol
    Tubb1
  • Name
    tubulin, beta 1 class VI
  • Synonyms
    2810484G07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:107814
    NCBI Gene: 545486
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:174292488-174299675 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 97.95 cM, cytoband H
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    324 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107814
 protein coding gene Chr2:174292388-174300173 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026968
 protein coding gene Chr2:180808377-180818129 (+)
A/J MGP_AJ_G0026935
 protein coding gene Chr2:173189671-173196979 (+)
AKR/J MGP_AKRJ_G0026906
 protein coding gene Chr2:178405443-178412557 (+)
BALB/cJ MGP_BALBcJ_G0026944
 protein coding gene Chr2:173584797-173593969 (+)
C3H/HeJ MGP_C3HHeJ_G0026686
 protein coding gene Chr2:178784282-178792539 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027391
 protein coding gene Chr2:186002754-186009924 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024760
 protein coding gene Chr2:166424862-166432174 (+)
CAST/EiJ MGP_CASTEiJ_G0026145
 protein coding gene Chr2:179514267-179521453 (+)
CBA/J MGP_CBAJ_G0026663
 protein coding gene Chr2:192933681-192943381 (+)
DBA/2J MGP_DBA2J_G0026801
 protein coding gene Chr2:172288610-172295710 (+)
FVB/NJ MGP_FVBNJ_G0026767
 protein coding gene Chr2:170912280-170919555 (+)
LP/J MGP_LPJ_G0026902
 protein coding gene Chr2:180721036-180730039 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026786
 protein coding gene Chr2:195827691-195834852 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027448
 protein coding gene Chr2:178434387-178441650 (+)
PWK/PhJ MGP_PWKPhJ_G0025881
 protein coding gene Chr2:172102955-172110559 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025681
 protein coding gene Chr2:177480905-177488320 (+)
WSB/EiJ MGP_WSBEiJ_G0026217
 protein coding gene Chr2:179398648-179405737 (+)



Homology
more
  • Human Ortholog
    TUBB1, tubulin beta 1 class VI
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TUBB1, tubulin beta 1 class VI
  • Synonyms
    MACTHC1
  • Links
    NCBI Gene ID: 81027
    neXtProt AC: NX_Q9H4B7
    UniProt: Q9H4B7

  • Chr Location
    20q13.32; chr20:59016438-59026654 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TUBB1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 2 genetic backgrounds
    8 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.
Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    8
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
    739
  • Tissues
    10
  • cDNA Data
    8
  • Literature Summary
    8
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000016255 Ensembl Gene Model | MGI Sequence Detail 7188 C57BL/6J ±  kb
transcript ENSMUST00000016399 Ensembl | MGI Sequence Detail 1406 Not Applicable  
polypeptide ENSMUSP00000016399 Ensembl | MGI Sequence Detail 451 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 8
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-36391, MGI:1920067
References
more
  • Summaries
    All 49
    Developmental Gene Expression 8
    Gene Ontology 8
    Phenotypes 8
  • Earliest
    J:35227 Wang D, et al., The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype. J Cell Biol. 1986 Nov;103(5):1903-10
  • Latest
    J:340672 Kimmerlin Q, et al., Loss of alpha4A- and beta1-tubulins leads to severe platelet spherocytosis and strongly impairs hemostasis in mice. Blood. 2022 Nov 24;140(21):2290-2299
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory