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Tgfb1 Gene Detail
Summary
  • Symbol
    Tgfb1
  • Name
    transforming growth factor, beta 1
  • Synonyms
    Tgfb, Tgfb-1, TGFbeta1, TGF-beta1, TGF-beta 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98725
    NCBI Gene: 21803
  • Gene Overview
    MyGene.info: TGFB1
Location & Maps
more
  • Sequence Map
    Chr7:25687002-25705077 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18076 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 13.98 cM
  • Mapping Data
    36 experiments
Homology
more
  • Human Ortholog
    TGFB1, transforming growth factor beta 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TGFB1, transforming growth factor beta 1
    Orthology source: HomoloGene
  • Synonyms
    CED, DPD1, LAP, TGFB, TGFbeta
  • Links
    NCBI Gene ID: 7040
    neXtProt AC: NX_P01137

  • Chr Location
    19q13.1; chr19:41330531-41353933 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Tgfb1 mouse models; 2 with human TGFB1 associations

Human Disease Mouse Models
       Sjogren Syndrome   OMIM: 270150 View 1 model
       Camurati-Engelmann Disease; CAEND   OMIM: 131300
Cystic Fibrosis; CF   OMIM: 219700
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    172 phenotypes from 11 alleles in 23 genetic backgrounds
    113 phenotypes from multigenic genotypes
    11 images
    209 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.
Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis.
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 OTTMUSG00000036027 VEGA Gene Model | MGI Sequence Detail 18076 C57BL/6J ±  kb
transcript OTTMUST00000092468 VEGA | MGI Sequence Detail 2175 Not Applicable  
polypeptide OTTMUSP00000051111 VEGA | MGI Sequence Detail 390 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    52 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000000182 TGF-beta 1
  • InterPro Domains
    IPR029034 Cystine-knot cytokine
    IPR016319 Transforming growth factor-beta
    IPR003939 Transforming growth factor, beta 1
    IPR017948 Transforming growth factor beta, conserved site
    IPR001839 Transforming growth factor-beta, C-terminal
    IPR001111 Transforming growth factor-beta, N-terminal
Molecular
Reagents
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  • All nucleic 51
    Genomic 3
    cDNA 26
    Primer pair 15
    Other 7

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-15063, MGD-MRK-15064, MGD-MRK-15067
References
more
  • Summaries
    All 757
    Developmental Gene Expression 187
    Diseases 5
    Gene Ontology 59
    Phenotypes 209
  • Earliest
    J:23987 de Larco JE, et al., Growth factors from murine sarcoma virus-transformed cells. Proc Natl Acad Sci U S A. 1978 Aug;75(8):4001-5
  • Latest
    J:231522 Ahlfeld SK, et al., Initial Suppression of Transforming Growth Factor-beta Signaling and Loss of TGFBI Causes Early Alveolar Structural Defects Resulting in Bronchopulmonary Dysplasia. Am J Pathol. 2016 Apr;186(4):777-93

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory