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Epb41 Gene Detail
Summary
  • Symbol
    Epb41
  • Name
    erythrocyte membrane protein band 4.1
  • Synonyms
    4.1R, D4Ertd442e, Elp1, Elp-1, Epb4.1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95401
    NCBI Gene: 269587
  • Gene Overview
    MyGene.info: EPB41
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr4:131923413-132075321 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      151909 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 64.54 cM
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    EPB41, erythrocyte membrane protein band 4.1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    EPB41, erythrocyte membrane protein band 4.1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    4.1R, EL1, HE
  • Links
    NCBI Gene ID: 2035
    neXtProt AC: NX_P11171
    UniProt: P11171

  • Chr Location
    1p35.3; chr1:28887091-29120046 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Epb41 mouse models; 1 with human EPB41 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 2 alleles in 2 genetic backgrounds
    28 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 for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin.
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 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
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000009743 VEGA Gene Model | MGI Sequence Detail 151909 C57BL/6J ±  kb
    transcript OTTMUST00000022523 VEGA | MGI Sequence Detail 5235 Not Applicable  
    polypeptide OTTMUSP00000010393 VEGA | MGI Sequence Detail 869 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1615 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 8
      cDNA 36
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9359, MGD-MRK-9360, MGD-MRK-9558, MGI:1261921, MGI:2140261
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 9
      Phenotypes 28
    • Earliest
      J:14608 Conboy J, et al., Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. N Engl J Med. 1986 Sep 11;315(11):680-5
    • Latest
      J:245876 Rohacek AM, et al., ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. Dev Cell. 2017 Nov 06;43(3):318-331.e5

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory