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Epb41 Gene Detail
Summary
  • Symbol
    Epb41
  • Name
    erythrocyte membrane protein band 4.1
  • Synonyms
    4.1R, D4Ertd442e, Elp-1, Elp1, Epb4.1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95401
    NCBI Gene: 269587
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:131650724-131802632 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 64.54 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3888 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95401
 protein coding gene Chr4:131650724-131802824 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028861
 protein coding gene Chr4:134038547-134196303 (-)
A/J MGP_AJ_G0028820
 protein coding gene Chr4:128468608-128622680 (-)
AKR/J MGP_AKRJ_G0028773
 protein coding gene Chr4:132070764-132227203 (-)
BALB/cJ MGP_BALBcJ_G0028843
 protein coding gene Chr4:129082579-129235880 (-)
C3H/HeJ MGP_C3HHeJ_G0028557
 protein coding gene Chr4:132317451-132478051 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029285
 protein coding gene Chr4:138855570-139014442 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026557
 protein coding gene Chr4:121565312-121714565 (-)
CAST/EiJ MGP_CASTEiJ_G0027990
 protein coding gene Chr4:130386277-130544828 (-)
CBA/J MGP_CBAJ_G0028523
 protein coding gene Chr4:142407116-142571329 (-)
DBA/2J MGP_DBA2J_G0028672
 protein coding gene Chr4:128892708-129045375 (-)
FVB/NJ MGP_FVBNJ_G0028639
 protein coding gene Chr4:127743206-127898448 (-)
LP/J MGP_LPJ_G0028773
 protein coding gene Chr4:134196862-134356579 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028665
 protein coding gene Chr4:147041447-147203288 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029323
 protein coding gene Chr4:132464146-132621538 (-)
PWK/PhJ MGP_PWKPhJ_G0027711
 protein coding gene Chr4:125562521-125717363 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027537
 protein coding gene Chr4:128344849-128500718 (-)
WSB/EiJ MGP_WSBEiJ_G0028070
 protein coding gene Chr4:132641358-132805675 (-)



Homology
more
  • Human Ortholog
    EPB41, erythrocyte membrane protein band 4.1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPB41, erythrocyte membrane protein band 4.1
  • Synonyms
    4.1R, EL1, HE
  • Links
    NCBI Gene ID: 2035
    neXtProt AC: NX_P11171
    UniProt: P11171

  • Chr Location
    1p35.3; chr1:28887091-29120046 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Epb41 mouse models

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
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    35 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.
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
less
  • All GO Annotations
    42
  • GO References
    13
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
    799
  • Tissues
    67
  • cDNA Data
    33
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028906 Ensembl Gene Model | MGI Sequence Detail 151909 C57BL/6J ±  kb
    transcript ENSMUST00000105975 Ensembl | MGI Sequence Detail 5235 Not Applicable  
    polypeptide ENSMUSP00000101595 Ensembl | MGI Sequence Detail 869 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 8
      cDNA 36
      Primer pair 2
      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 104
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 13
      Phenotypes 35
    • 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: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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory