About   Help   FAQ
Epb4.1
Gene Detail
Symbol

Name
ID
Epb4.1
erythrocyte protein band 4.1
MGI:95401
Synonyms
4.1R, D4Ertd442e, Elp1, Elp-1
Feature Type
protein coding gene
Genetic Map
Chromosome 4
64.54 cM
Detailed Genetic Map ± 1 cM


Mapping data(14)
Sequence Map
Chr4:131923413-132075321 bp, - strand
From VEGA annotation of GRCm38

  151909 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:44324  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: membrane skeletal protein 4.1
Gene Tree: Epb4.1

Human
homologs
Human Homolog EPB41, erythrocyte membrane protein band 4.1
NCBI Gene ID 2035
neXtProt AC  NX_P11171
Human Synonyms  4.1R, EL1, HE
Human Chr (Location)  1p33-p32; chr1:28887091-29120046 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human EPB41
Mutations,
alleles, and
phenotypes
All mutations/alleles(90) : Gene trapped(84) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Epb4.1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Epb4.1 interacts with 287 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process actin cytoskeleton organization, cortical actin cytoskeleton organization, ...
Component actin cytoskeleton, cortical cytoskeleton, ...
Function 1-phosphatidylinositol binding, actin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (41)    Tissues (34)    Images (14)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 41
cDNA source data(33)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(46) Genomic(8) cDNA(36) Primer pair(1) Other(1)
Microarray probesets(3)
Sequences
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 sequences
All sequences(210) RefSeq(60) UniProt(33)
Polymorphisms
RFLP(1) : SNPs within 2kb(1613 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008379 Band 4.1, C-terminal
InterPro IPR019749 Band 4.1 domain
InterPro IPR019750 Band 4.1 family
InterPro IPR021187 Band 4.1 protein
InterPro IPR000798 Ezrin/radixin/moesin like
InterPro IPR014352 FERM/acyl-CoA-binding protein, 3-helical bundle
InterPro IPR014847 FERM adjacent (FA)
InterPro IPR019748 FERM central domain
InterPro IPR019747 FERM conserved site
InterPro IPR018980 FERM, C-terminal PH-like domain
InterPro IPR000299 FERM domain
InterPro IPR018979 FERM, N-terminal
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR007477 SAB domain
Protein Ontology PR:000007107 protein 4.1
References
(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:208725 Sui Z, et al., Tropomodulin3-null mice are embryonic lethal with anemia due to impaired erythroid terminal differentiation in the fetal liver. Blood. 2014 Jan 30;123(5):758-67
All references(81)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-9359, MGD-MRK-9360, MGD-MRK-9558, MGI:1261921, MGI:2140261

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/09/2014
MGI 5.20
The Jackson Laboratory