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Epb41l3 Gene Detail
Summary
  • Symbol
    Epb41l3
  • Name
    erythrocyte membrane protein band 4.1 like 3
  • Synonyms
    4.1B, DAL1P, Epb4.1l3, NBL3
  • Feature Type
    protein coding gene
  • IDs
    MGI:103008
    NCBI Gene: 13823
  • Alliance
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:69382678-69596984 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 40.15 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1229 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103008
protein coding gene Chr17:69382642-69596986 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023996
protein coding gene Chr17:71479795-71618690 (+)
A/J MGP_AJ_G0023954
protein coding gene Chr17:69329576-69463153 (+)
AKR/J MGP_AKRJ_G0023923
protein coding gene Chr17:70306375-70447915 (+)
BALB/cJ MGP_BALBcJ_G0023955
protein coding gene Chr17:69258439-69394438 (+)
C3H/HeJ MGP_C3HHeJ_G0023719
protein coding gene Chr17:71223679-71358810 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024401
protein coding gene Chr17:74050506-74204377 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021847
protein coding gene Chr17:65208160-65358420 (+)
CAST/EiJ MGP_CASTEiJ_G0023201
protein coding gene Chr17:71630352-71771623 (+)
CBA/J MGP_CBAJ_G0023695
protein coding gene Chr17:77150948-77301147 (+)
DBA/2J MGP_DBA2J_G0023823
protein coding gene Chr17:68010253-68158494 (+)
FVB/NJ MGP_FVBNJ_G0023789
protein coding gene Chr17:67501757-67642584 (+)
LP/J MGP_LPJ_G0023905
protein coding gene Chr17:72230648-72369964 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023817
protein coding gene Chr17:77095869-77246620 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024445
protein coding gene Chr17:70794208-70934420 (+)
PWK/PhJ MGP_PWKPhJ_G0022947
protein coding gene Chr17:67357758-67495030 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022758
protein coding gene Chr17:67517072-67661252 (+)
WSB/EiJ MGP_WSBEiJ_G0023267
protein coding gene Chr17:71549503-71686017 (+)



Homology
more
  • Human Ortholog
    EPB41L3, erythrocyte membrane protein band 4.1 like 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPB41L3, erythrocyte membrane protein band 4.1 like 3
  • Synonyms
    4.1B, DAL1, DAL-1
  • Links
    NCBI Gene ID: 23136
    neXtProt AC: NX_Q9Y2J2
    UniProt: Q9Y2J2

  • Chr Location
    18p11.31; chr18:5392381-5630700 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human EPB41L3 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 5 alleles in 4 genetic backgrounds
    4 images
    23 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 homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length.
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 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
non-membrane-bounded 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
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024044 Ensembl Gene Model | MGI Sequence Detail 214307 C57BL/6J ±  kb
transcript ENSMUST00000238898 Ensembl | MGI Sequence Detail 4368 Not Applicable  
polypeptide ENSMUSP00000158929 Ensembl | MGI Sequence Detail 1052 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 62
    Genomic 1
    cDNA 61

    Microarray probesets 8
Other
Accession IDs
less
MGD-MRK-23845
References
more
  • Summaries
    All 69
    Developmental Gene Expression 10
    Gene Ontology 10
    Phenotypes 23
  • Earliest
    J:19489 Takeuchi K, et al., Structural diversity of band 4.1 superfamily members. J Cell Sci. 1994 Jul;107(Pt 7):1921-8
  • Latest
    J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory