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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)
Theiler Stages: 23, 28
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
VEGA Gene ModelOTTMUSG00000015876 (Evidence)
Ensembl Gene ModelENSMUSG00000027624 (Evidence)
Entrez Gene13821 (Evidence)
UniGene20852
DFCITC1578934, TC1591298, TC1592237, TC1606275, TC1624728, TC1648274
DoTSDT.101384331, DT.101384332, DT.102550869, DT.103562945, DT.110729753, DT.110729764, DT.110729770, DT.485661, DT.60104479, DT.87040140, DT.97375047
Consensus CDS ProjectCCDS16966.1, CCDS71169.1, CCDS71170.1
International Mouse Knockout Project StatusEpb4.1l1
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
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory