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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

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
Alleles
and
phenotypes
All 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)   
Gene Ontology
(GO)
classifications
All GO classifications: (23 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: (6 records)
Data Summary: Results (41)    Tissues (33)    Images (14)
Theiler Stages: 19, 23, 24, 26, 28
Assay TypeResults
RNA in situ 41
cDNA source data(33)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(46) Genomic(8) cDNA(36) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000009743 (Evidence)
Ensembl Gene ModelENSMUSG00000028906 (Evidence)
Entrez Gene269587 (Evidence)
DFCITC1574946, TC1601272, TC1601590, TC1611217, TC1641827, TC1674771, TC1684113, TC1738320
DoTSDT.101135582, DT.101167020, DT.101184062, DT.101196892, DT.103578306, DT.495370, DT.495373, DT.91335863, DT.94188944, DT.94338734, DT.97354713, DT.97375477
Consensus CDS ProjectCCDS18717.1, CCDS51317.1
International Mouse Knockout Project StatusEpb4.1
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(193) RefSeq(60) UniProt(16)
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:199579 Papal S, et al., The giant spectrin betaV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum Mol Genet. 2013 Sep 15;22(18):3773-88
All references(80)
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
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory