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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

HCOP human homology predictions: EPB41L1
Protein SuperFamily: membrane skeletal protein 4.1
Gene Tree: Epb4.1l1

Human
homologs
EPB41L1, erythrocyte membrane protein band 4.1-like 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2036
neXtProt AC: NX_Q9H4G0

Human Synonyms: 4.1N, MRD11

Human Chr (Location): 20q11.2-q12; chr20:36064891-36232799 (+)  GRCh38.p2

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 , CvDC )
 
Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation.
 
Interactions
Epb4.1l1 interacts with 410 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(85) cDNA(85)
Microarray probesets(8)
Other database
links
VEGA Gene Model OTTMUSG00000015876 (Evidence)
Ensembl Gene Model ENSMUSG00000027624 (Evidence)
Entrez Gene 13821 (Evidence)
UniGene 20852
DFCI TC1648274, TC1624728, TC1606275, TC1592237, TC1591298, TC1578934
DoTS DT.101384332, DT.110729770, DT.101384331, DT.110729764, DT.102550869, DT.110729753, DT.103562945, DT.87040140, DT.60104479, DT.485661, DT.97375047
Consensus CDS Project CCDS16966.1, CCDS71169.1, CCDS71170.1
International Mouse Phenotyping Consortium Status Epb4.1l1
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(130) RefSeq(35) 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 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
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory