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Elfn1 Gene Detail
Summary
  • Symbol
    Elfn1
  • Name
    leucine rich repeat and fibronectin type III, extracellular 1
  • Synonyms
    A930017N06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442479
    NCBI Gene: 243312
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:139893698-139960477 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 78.81 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1815 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442479
 protein coding gene Chr5:139893346-139960480 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030294
 protein coding gene Chr5:144930167-145009635 (+)
A/J MGP_AJ_G0030263
 protein coding gene Chr5:138773568-138839833 (+)
AKR/J MGP_AKRJ_G0030195
 protein coding gene Chr5:143114210-143184601 (+)
BALB/cJ MGP_BALBcJ_G0030280
 protein coding gene Chr5:140023095-140090372 (+)
C3H/HeJ MGP_C3HHeJ_G0029991
 protein coding gene Chr5:143887458-143958911 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030725
 protein coding gene Chr5:150299374-150384119 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027943
 protein coding gene Chr5:132625355-132692617 (+)
CAST/EiJ MGP_CASTEiJ_G0029396
 protein coding gene Chr5:143301319-143376175 (+)
CBA/J MGP_CBAJ_G0029961
 protein coding gene Chr5:156482838-156573745 (+)
DBA/2J MGP_DBA2J_G0030111
 protein coding gene Chr5:138585836-138655656 (+)
FVB/NJ MGP_FVBNJ_G0030066
 protein coding gene Chr5:137727064-137795780 (+)
LP/J MGP_LPJ_G0030197
 protein coding gene Chr5:145553999-145626573 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030097
 protein coding gene Chr5:159100513-159172829 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030765
 protein coding gene Chr5:142942023-143014855 (+)
PWK/PhJ MGP_PWKPhJ_G0029111
 protein coding gene Chr5:137604363-137672302 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028947
 protein coding gene Chr5:140621939-140694917 (+)
WSB/EiJ MGP_WSBEiJ_G0029470
 protein coding gene Chr5:143705902-143780639 (+)



Homology
more
  • Human Ortholog
    ELFN1, extracellular leucine rich repeat and fibronectin type III domain containing 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ELFN1, extracellular leucine rich repeat and fibronectin type III domain containing 1
  • Synonyms
    PPP1R28
  • Links
    NCBI Gene ID: 392617
    neXtProt AC: NX_P0C7U0
    UniProt: P0C7U0

  • Chr Location
    chr7:1665745-1747946 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    20 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.
Homozygous mutants display impaired coordination, hyperactivity, lower anxiety-related response, and increased susceptibility to induced seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    6
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
    831
  • Tissues
    30
  • cDNA Data
    10
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048988 Ensembl Gene Model | MGI Sequence Detail 66780 C57BL/6J ±  kb
    transcript ENSMUST00000050519 Ensembl | MGI Sequence Detail 3832 Not Applicable  
    polypeptide ENSMUSP00000053869 Ensembl | MGI Sequence Detail 828 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000031916 protein phosphatase 1 regulatory subunit 28
      (term hierarchy)
    • InterPro Domains
      IPR000483 Cysteine-rich flanking region, C-terminal
      IPR001611 Leucine-rich repeat
      IPR050541 Leucine-rich repeat and transmembrane domain-containing protein
      IPR032675 Leucine-rich repeat domain superfamily
      IPR003591 Leucine-rich repeat, typical subtype
    • GlyGen
      Q8C8T7 8 sites, 6 N-linked glycans (5 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2140817
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 6
      Gene Ontology 6
      Phenotypes 20
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory