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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
  • Gene Overview
    MyGene.info: LARGE1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:72814599-73353540 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 35.08 cM, cytoband C1
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2429 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 Chr8:72814598-73353577 (-)
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
    9
  • Human Ortholog
    LARGE1, LARGE xylosyl- and glucuronyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    LARGE, MDC1D, MDDGA6, MDDGB6
  • Links
    NCBI Gene ID: 9215
    neXtProt AC: NX_O95461
    UniProt: O95461

  • Chr Location
    22q12.3; chr22:33162237-33922841 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Large1 mouse models; 3 with human LARGE1 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
View 1 model
      
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
    64 phenotypes from 5 alleles in 8 genetic backgrounds
    15 phenotypes from multigenic genotypes
    2 images
    59 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004383 Ensembl Gene Model | MGI Sequence Detail 538942 C57BL/6J ±  kb
    transcript ENSMUST00000004497 Ensembl | MGI Sequence Detail 3669 Not Applicable  
    polypeptide ENSMUSP00000004497 Ensembl | 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 108
      Developmental Gene Expression 8
      Diseases 4
      Gene Ontology 11
      Phenotypes 59
    • 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:263958 Seo BA, et al., LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory. Proc Natl Acad Sci U S A. 2018 Jul 3;115(27):7111-7116

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/11/2018
    MGI 6.13
    The Jackson Laboratory