EPB41 (erythrocyte membrane protein band 4.1)

2007-02-01  

Identity

HGNC
LOCATION
1p35.3
LOCUSID
ALIAS
4.1R,EL1,HE
FUSION GENES

Other Information

Locus ID:

NCBI: 2035
MIM: 130500
HGNC: 3377
Ensembl: ENSG00000159023

Variants:

dbSNP: 2035
ClinVar: 2035
TCGA: ENSG00000159023
COSMIC: EPB41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159023ENST00000343067P11171
ENSG00000159023ENST00000347529P11171
ENSG00000159023ENST00000349460A0A2U3TZH6
ENSG00000159023ENST00000356093Q4VB86
ENSG00000159023ENST00000373797P11171
ENSG00000159023ENST00000373798P11171
ENSG00000159023ENST00000373800P11171
ENSG00000159023ENST00000636666A0A1B0GWG0
ENSG00000159023ENST00000642260P11171
ENSG00000159023ENST00000642643A0A2R8Y6T6
ENSG00000159023ENST00000642937A0A2R8YD30
ENSG00000159023ENST00000643155A0A2R8YFU8
ENSG00000159023ENST00000643173A0A2R8Y570
ENSG00000159023ENST00000643604A0A2R8Y5G2
ENSG00000159023ENST00000644342A0A2R8Y6D0
ENSG00000159023ENST00000644470A0A2R8Y5C8
ENSG00000159023ENST00000644600A0A2R8Y5Z6
ENSG00000159023ENST00000644780A0A2R8YCW8
ENSG00000159023ENST00000644848A0A2R8Y4N6
ENSG00000159023ENST00000645184A0A2R8Y6G5
ENSG00000159023ENST00000646189A0A2R8Y7N0
ENSG00000159023ENST00000646260A0A2R8YFR9
ENSG00000159023ENST00000646800A0A2R8Y420
ENSG00000159023ENST00000646871A0A2R8Y783
ENSG00000159023ENST00000647103A0A2R8Y7Y3
ENSG00000159023ENST00000648181A0A3B3IUD6
ENSG00000159023ENST00000648891A0A3B3ITC5
ENSG00000159023ENST00000649717A0A3B3ITP0
ENSG00000159023ENST00000650265A0A3B3IU06

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445876Tobacco Use DisorderDiseaseClinicalAnnotationassociatedPD
PA448687bupropionChemicalClinicalAnnotationassociatedPD
PA450626nicotineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
165375402006Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16.65
156110952005Modulation of erythrocyte membrane mechanical function by protein 4.1 phosphorylation.49
129603802003Nuclear actin and protein 4.1: essential interactions during nuclear assembly in vitro.36
162542122005Activation of the endothelial store-operated ISOC Ca2+ channel requires interaction of protein 4.1 with TRPC4.34
121305212002Plasmodium falciparum cysteine protease falcipain-2 cleaves erythrocyte membrane skeletal proteins at late stages of parasite development.29
120441582002Functional characterization of spectrin-actin-binding domains in 4.1 family of proteins.27
160606762005Identification and functional characterization of protein 4.1R and actin-binding sites in erythrocyte beta spectrin: regulation of the interactions by phosphatidylinositol-4,5-bisphosphate.25
177153932008Regulated Fox-2 isoform expression mediates protein 4.1R splicing during erythroid differentiation.25
180796992008Intrasplicing coordinates alternative first exons with alternative splicing in the protein 4.1R gene.18
217501962011Protein 4.1R regulates cell migration and IQGAP1 recruitment to the leading edge.18

Citation

Dessen P

EPB41 (erythrocyte membrane protein band 4.1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46379/epb41