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Epb4.1l1
Gene Detail
Symbol

Name
ID
Epb4.1l1
erythrocyte protein band 4.1-like 1
MGI:103010
Synonyms
4.1N, mKIAA0338
Feature Type
protein coding gene
Genetic Map
Chromosome 2
77.39 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:156420909-156543214 bp, + strand
From VEGA annotation of GRCm38

  122306 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8126  Vertebrate Homology Class
1 human; 1 mouse; 2 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: membrane skeletal protein 4.1
Gene Tree: Epb4.1l1

Human
homologs
Human Homolog EPB41L1, erythrocyte membrane protein band 4.1-like 1
NCBI Gene ID 2036
neXtProt AC  NX_Q9H4G0
Human Synonyms  4.1N, MRD11
Human Chr (Location)  20q11.2-q12; chr20:36091504-36232799 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human EPB41L1
Mutations,
alleles, and
phenotypes
All mutations/alleles(176) : Gene trapped(172) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation.
 
Interactions
Epb4.1l1 interacts with 411 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cortical actin cytoskeleton organization
Component cytoplasm, cytoskeleton, ...
Function actin binding, cytoskeletal protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (324)    Tissues (37)    Images (28)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 324
cDNA source data(85)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(85) cDNA(85)
Microarray probesets(8)
Other database
links
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015876 VEGA Gene Model | MGI Sequence Detail 122306 C57BL/6J ±  kb
transcript OTTMUST00000037733 VEGA | MGI Sequence Detail 3471 Not Applicable 
polypeptide OTTMUSP00000016922 VEGA | MGI Sequence Detail 1064 Not Applicable 

For the selected sequences
All sequences(143) RefSeq(48) UniProt(9)
Polymorphisms
RFLP(1) : SNPs within 2kb(1314 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:000007108 band 4.1-like protein 1
References
(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:193500 Xu B, et al., Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion. Cell. 2013 Jan 17;152(1-2):262-75
All references(48)
Other
accession IDs
MGD-MRK-23847

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
10/08/2014
MGI 5.20
The Jackson Laboratory