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Mbtd1 Gene Detail
Summary
  • Symbol
    Mbtd1
  • Name
    mbt domain containing 1
  • Synonyms
    hemp
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143977
    NCBI Gene: 103537
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:93776678-93837811 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 58.86 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    472 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2143977
 protein coding gene Chr11:93776635-93837815 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018945
 protein coding gene Chr11:95913965-95975069 (+)
A/J MGP_AJ_G0018913
 protein coding gene Chr11:92114723-92177552 (+)
AKR/J MGP_AKRJ_G0018883
 protein coding gene Chr11:94986525-95050702 (+)
BALB/cJ MGP_BALBcJ_G0018886
 protein coding gene Chr11:92541576-92603834 (+)
C3H/HeJ MGP_C3HHeJ_G0018700
 protein coding gene Chr11:95058579-95122580 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019338
 protein coding gene Chr11:98906681-98970996 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016969
 protein coding gene Chr11:89603393-89668043 (+)
CAST/EiJ MGP_CASTEiJ_G0018255
 protein coding gene Chr11:95741386-95805725 (+)
CBA/J MGP_CBAJ_G0018671
 protein coding gene Chr11:103016076-103081846 (+)
DBA/2J MGP_DBA2J_G0018779
 protein coding gene Chr11:91677583-91740783 (+)
FVB/NJ MGP_FVBNJ_G0018768
 protein coding gene Chr11:91096789-91159185 (+)
LP/J MGP_LPJ_G0018849
 protein coding gene Chr11:96462335-96532282 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018795
 protein coding gene Chr11:103071923-103131922 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019378
 protein coding gene Chr11:95171935-95234245 (+)
PWK/PhJ MGP_PWKPhJ_G0018025
 protein coding gene Chr11:92598030-92658869 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017815
 protein coding gene Chr11:94863043-94916861 (+)
WSB/EiJ MGP_WSBEiJ_G0018304
 protein coding gene Chr11:95055376-95119233 (+)



Homology
more
  • Human Ortholog
    MBTD1, mbt domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MBTD1, mbt domain containing 1
  • Synonyms
    SA49P01
  • Links
    NCBI Gene ID: 54799
    neXtProt AC: NX_Q05BQ5
    UniProt: Q05BQ5

  • Chr Location
    17q21.33; chr17:51177425-51260958 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    21 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 knock-out allele exhibit neonatal lethality and severe abnormalities in hematopoietic stem cell function and skeletal formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • 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
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
    746
  • Tissues
    34
  • cDNA Data
    21
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000059474 Ensembl Gene Model | MGI Sequence Detail 61134 C57BL/6J ±  kb
    transcript ENSMUST00000107853 Ensembl | MGI Sequence Detail 5245 Not Applicable  
    polypeptide ENSMUSP00000103485 Ensembl | MGI Sequence Detail 631 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 22
      Primer pair 2
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2144082
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 10
      Phenotypes 21
    • Earliest
      J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
    • Latest
      J:343210 Takubo K, et al., MBTD1 preserves adult hematopoietic stem cell pool size and function. Proc Natl Acad Sci U S A. 2023 Aug 8;120(32):e2206860120
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory