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Tgm1 Gene Detail
Summary
  • Symbol
    Tgm1
  • Name
    transglutaminase 1, K polypeptide
  • Synonyms
    2310004J08Rik, K polypeptide, protein-glutamine-gamma-glutamyltransferase, TGase 1, TGase1, TG K
  • Feature Type
    protein coding gene
  • IDs
    MGI:98730
    NCBI Gene: 21816
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:55937466-55951378 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 28.19 cM, cytoband C1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    294 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98730
 protein coding gene Chr14:55937466-55951383 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021364
 protein coding gene Chr14:49742513-49755980 (-)
A/J MGP_AJ_G0021323
 protein coding gene Chr14:48753851-48767312 (-)
AKR/J MGP_AKRJ_G0021299
 protein coding gene Chr14:50504466-50517933 (-)
BALB/cJ MGP_BALBcJ_G0021327
 protein coding gene Chr14:48719498-48732981 (-)
C3H/HeJ MGP_C3HHeJ_G0021107
 protein coding gene Chr14:50185803-50199282 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021765
 protein coding gene Chr14:52235047-52248522 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019312
 protein coding gene Chr14:47122903-47136621 (-)
CAST/EiJ MGP_CASTEiJ_G0020626
 protein coding gene Chr14:46449441-46462907 (-)
CBA/J MGP_CBAJ_G0021074
 protein coding gene Chr14:53803379-53816862 (-)
DBA/2J MGP_DBA2J_G0021195
 protein coding gene Chr14:48473150-48486617 (-)
FVB/NJ MGP_FVBNJ_G0021177
 protein coding gene Chr14:47920857-47934330 (-)
LP/J MGP_LPJ_G0021269
 protein coding gene Chr14:50790807-50804290 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021201
 protein coding gene Chr14:53154840-53168641 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021792
 protein coding gene Chr14:49685807-49699282 (-)
PWK/PhJ MGP_PWKPhJ_G0020373
 protein coding gene Chr14:45006587-45020161 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020201
 protein coding gene Chr14:45690495-45704812 (-)
WSB/EiJ MGP_WSBEiJ_G0020679
 protein coding gene Chr14:49970173-49983605 (-)



Homology
more
  • Human Ortholog
    TGM1, transglutaminase 1
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TGM1, transglutaminase 1
  • Synonyms
    ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
  • Links
    NCBI Gene ID: 7051
    neXtProt AC: NX_P22735
    UniProt: P22735

  • Chr Location
    14q12; chr14:24249114-24264432 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tgm1 mouse models; 1 with human TGM1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    4 images
    15 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.
Newborn mice homozygous for a knock-out allele are small and hypoactive and die within hours of birth displaying failure to suckle, progressive dehydration, and epidermal defects including a reddish, tight and wrinkled skin, hyperkeratosis, and impaired skin barrier function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    7
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
    859
  • Tissues
    124
  • cDNA Data
    29
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21816 NCBI Gene Model | MGI Sequence Detail 13913 C57BL/6J ±  kb
    transcript NM_001161715 RefSeq | MGI Sequence Detail 2854 C57BL/6  
    polypeptide Q9JLF6 UniProt | EBI | MGI Sequence Detail 815 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 1
      cDNA 32
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-15072, MGI:1916760
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 20
      Diseases 2
      Gene Ontology 7
      Phenotypes 15
    • Earliest
      J:13218 Rajagopalan S, et al., Six mRNAs with different 5' ends are encoded by a single gamma-glutamyltransferase gene in mouse. Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6179-83
    • Latest
      J:335426 Butera A, et al., ZFP750 affects the cutaneous barrier through regulating lipid metabolism. Sci Adv. 2023 Apr 28;9(17):eadg5423
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory