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Large1 Gene Detail
Summary
  • Symbol
    Large1
  • Name
    LARGE xylosyl- and glucuronyltransferase 1
  • Synonyms
    BPFD#36, enr, fg, froggy, mKIAA0609
  • Feature Type
    protein coding gene
  • IDs
    MGI:1342270
    NCBI Gene: 16795
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:73541227-74080164 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 35.08 cM, cytoband C1
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8381 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1342270
 protein coding gene Chr8:73541227-74080168 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033791
 protein coding gene Chr8:73316098-73861306 (-)
A/J MGP_AJ_G0033773
 protein coding gene Chr8:70333900-70866490 (-)
AKR/J MGP_AKRJ_G0033700
 protein coding gene Chr8:72442930-72979669 (-)
BALB/cJ MGP_BALBcJ_G0033767
 protein coding gene Chr8:70477690-70991121 (-)
C3H/HeJ MGP_C3HHeJ_G0033476
 protein coding gene Chr8:73054869-73582992 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034287
 protein coding gene Chr8:76086325-76626826 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031228
 protein coding gene Chr8:64849052-65290589 (-)
CAST/EiJ MGP_CASTEiJ_G0032805
 protein coding gene Chr8:72408989-72911551 (-)
CBA/J MGP_CBAJ_G0033455
 protein coding gene Chr8:78816432-79394901 (-)
DBA/2J MGP_DBA2J_G0033609
 protein coding gene Chr8:70077707-70592913 (-)
FVB/NJ MGP_FVBNJ_G0033554
 protein coding gene Chr8:69177446-69691721 (-)
LP/J MGP_LPJ_G0033698
 protein coding gene Chr8:73393478-73910526 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033597
 protein coding gene Chr8:81293305-81831697 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034304
 protein coding gene Chr8:72538390-73062604 (-)
PWK/PhJ MGP_PWKPhJ_G0032511
 protein coding gene Chr8:69349116-69843284 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032349
 protein coding gene Chr8:71427721-71933501 (-)
WSB/EiJ MGP_WSBEiJ_G0032920
 protein coding gene Chr8:72792357-73315015 (-)



Homology
more
  • Human Ortholog
    LARGE1, LARGE xylosyl- and glucuronyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LARGE1, LARGE xylosyl- and glucuronyltransferase 1
  • Synonyms
    LARGE, MDC1D, MDDGA6, MDDGB6
  • Links
    NCBI Gene ID: 9215
    neXtProt AC: NX_O95461
    UniProt: O95461

  • Chr Location
    22q12.3; chr22:33066663-33922841 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Large1 mouse models; 2 with human LARGE1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 6 alleles in 9 genetic backgrounds
    7 phenotypes from multigenic genotypes
    2 images
    70 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 exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    142
  • GO References
    40
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
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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
    748
  • Tissues
    18
  • cDNA Data
    72
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16795 NCBI Gene Model | MGI Sequence Detail 538938 C57BL/6J ±  kb
    transcript NM_001317391 RefSeq | MGI Sequence Detail 4742 ZRU/MplStud  
    polypeptide Q9Z1M7 UniProt | EBI | MGI Sequence Detail 756 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 80
      Genomic 3
      cDNA 75
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12127, MGD-MRK-12128, MGD-MRK-12737, MGD-MRK-9759, MGI:1196289, MGI:96926, MGI:97251
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 9
      Diseases 4
      Gene Ontology 40
      Phenotypes 70
    • Earliest
      J:5670 Lane PW, et al., Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered. 1976 May-Jun;67(3):135-8
    • Latest
      J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory