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 (elliptocytosis 1, RH-linked)
NCBI Gene ID		2035
neXtProt AC		NX_P11171
Human Synonyms		4.1R, EL1, HE
Human Chr (Location)		1p33-p32; chr1:29213603-29446558 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EPB41

Alleles and phenotypes

All alleles(89) : Targeted(5) Gene trapped(84)
 

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: (25 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 Type	Results
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 Model	OTTMUSG00000009743 (Evidence)
Ensembl Gene Model	ENSMUSG00000028906 (Evidence)
Entrez Gene	269587 (Evidence)
DFCI	TC1574946, TC1601272, TC1601590, TC1611217, TC1641827, TC1674771, TC1684113, TC1738320
DoTS	DT.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 Project	CCDS18717.1, CCDS51317.1
International Mouse Knockout Project Status	Epb4.1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000009743	VEGA Gene Model | MGI Sequence Detail	151909	C57BL/6J
transcript	OTTMUST00000022523	VEGA | MGI Sequence Detail	5235	Not Applicable
polypeptide	OTTMUSP00000010393	VEGA | MGI Sequence Detail	869	Not Applicable

All sequences(137) RefSeq(6) UniProt(16)

Polymorphisms

RFLP(1) : SNPs(857 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194770 Liu J, et al., Quantitative analysis of murine terminal erythroid differentiation in vivo: novel method to study normal and disordered erythropoiesis. Blood. 2013 Feb 21;121(8):e43-9
All references(78)

Other accession IDs

MGD-MRK-9359, MGD-MRK-9360, MGD-MRK-9558, MGI:1261921, MGI:2140261