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Extl1 Gene Detail
Summary
  • Symbol
    Extl1
  • Name
    exostosin-like glycosyltransferase 1
  • Synonyms
    D430033M16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1888742
    NCBI Gene: 56219
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:134083684-134099893 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 4, 66.63 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    595 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1888742
protein coding gene Chr4:134083683-134111161 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028925
protein coding gene Chr4:136712391-136740693 (-)
A/J MGP_AJ_G0028884
protein coding gene Chr4:130956937-130985830 (-)
AKR/J MGP_AKRJ_G0028836
protein coding gene Chr4:134710213-134742330 (-)
BALB/cJ MGP_BALBcJ_G0028908
protein coding gene Chr4:131599735-131626769 (-)
C3H/HeJ MGP_C3HHeJ_G0028622
protein coding gene Chr4:134947241-134980531 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029349
protein coding gene Chr4:141641893-141670226 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026620
protein coding gene Chr4:124015013-124043392 (-)
CAST/EiJ MGP_CASTEiJ_G0028054
protein coding gene Chr4:133071651-133102436 (-)
CBA/J MGP_CBAJ_G0028587
protein coding gene Chr4:145362722-145393449 (-)
DBA/2J MGP_DBA2J_G0028736
protein coding gene Chr4:131380276-131408780 (-)
FVB/NJ MGP_FVBNJ_G0028703
protein coding gene Chr4:130273193-130300178 (-)
LP/J MGP_LPJ_G0028835
protein coding gene Chr4:136798406-136825235 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028729
protein coding gene Chr4:149854040-149887155 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029387
protein coding gene Chr4:135148532-135179585 (-)
PWK/PhJ MGP_PWKPhJ_G0027774
protein coding gene Chr4:128107440-128136140 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027600
protein coding gene Chr4:130963738-130992324 (-)
WSB/EiJ MGP_WSBEiJ_G0028132
protein coding gene Chr4:135312538-135339868 (-)



Homology
more
  • Human Ortholog
    EXTL1, exostosin like glycosyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXTL1, exostosin like glycosyltransferase 1
  • Synonyms
    EXTL
  • Links
    NCBI Gene ID: 2134
    neXtProt AC: NX_Q92935
    UniProt: Q92935

  • Chr Location
    1p36.11; chr1:26019884-26036464 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 2 genetic backgrounds
    12 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 with loss of expression in dendritic cells display impaired dendritic cell chemotaxis, increased susceptibility to bacterial infection, and autoimmune disorders in elderly mice.
Gene Ontology
(GO)
Classifications
less
  • 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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56219 NCBI Gene Model | MGI Sequence Detail 16210 C57BL/6J ±  kb
    transcript NM_001355493 RefSeq | MGI Sequence Detail 4206 ZRU/MplStud  
    polypeptide Q9JKV7 UniProt | EBI | MGI Sequence Detail 669 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 1
      cDNA 25
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2443243
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 4
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:63309 Stickens D, et al., EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Dev Dyn. 2000 Jul;218(3):452-64
    • Latest
      J:333437 Liu J, et al., Glycosyltransferase Extl1 promotes CCR7-mediated dendritic cell migration to restrain infection and autoimmunity. Cell Rep. 2023 Jan 31;42(1):111991

    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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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory