EPB41 (Erythrocyte Membrane Protein Band 4.1)
Key cytoskeletal protein in red blood cell membrane stability and beyond
Gene Information Card
| Symbol | EPB41 |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13-p34.3 |
| NCBI Gene ID | 2035 ncbi.nlm.nih.gov/gene/2035 |
| Ensembl ID | ENSG00000159023 |
| UniProt ID | P11171 |
| OMIM ID | 130500 |
| HGNC ID | 3378 |
| Aliases | 4.1R, EL1, HE, P4.1 |
Description
EPB41 encodes erythrocyte membrane protein band 4.1 (4.1R), a key component of the erythrocyte cytoskeleton. It links the spectrin-actin network to the plasma membrane via interactions with glycophorin C and band 3, maintaining red blood cell deformability and stability. Alternative splicing generates multiple isoforms expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Elliptocytosis (HE) | Mutations in EPB41 disrupt the spectrin-actin junction, weakening the membrane skeleton and causing red blood cell elliptocytosis. | ClinVar, OMIM |
| Hereditary Pyropoikilocytosis (HPP) | Severe compound heterozygous or homozygous EPB41 mutations lead to extreme membrane instability and fragmented red cells. | ClinVar, OMIM |
| Spherocytosis (rare) | Some EPB41 variants impair membrane attachment, resulting in spherical red cells and hemolytic anemia. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Spleen | 8.2 | Medium |
| Bone marrow | 6.1 | Low |
| Brain | 3.4 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (erythroleukemia) | 15.3 | High expression; model for erythroid differentiation |
| HEL (erythroleukemia) | 12.8 | High expression |
| HepG2 (liver) | 1.2 | Low expression |
| A549 (lung) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Ile) | Missense | Rare | Disrupts spectrin-binding domain; associated with HE |
| c.1303delG (p.Glu435Lysfs*12) | Frameshift | Rare | Loss of C-terminal domain; causes HPP |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe HE/HPP |
Mutation functional classification
Loss of Function (LOF)
Most EPB41 mutations are loss-of-function, reducing or abolishing protein 4.1R expression or its ability to bind spectrin/actin, leading to membrane instability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations (e.g., p.Thr166Ile) act in a dominant-negative manner by interfering with wild-type 4.1R function at the junctional complex.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Erythrocyte membrane skeleton (Reactome: R-HSA-5621480)
• Cell junction organization (Reactome: R-HSA-446728)
Protein Summary
Protein 4.1R (UniProt P11171) is a 80-100 kDa multifunctional cytoskeletal protein. It contains a FERM domain (N-terminal) that binds to transmembrane proteins (glycophorin C, band 3) and a spectrin-actin binding domain (SABD) that stabilizes the junctional complex. Isoforms vary by alternative splicing, with erythroid-specific isoforms critical for red cell integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L3 Knockout HEK293 Cell Line | EDJ-KQ3882 | Human | 23136 | Details Get a Quote |
| EPB41L2 Knockout HEK293 Cell Line | EDJ-KQ4532 | Human | 2037 | Details Get a Quote |
| EPB41L1 Knockout HEK293 Cell Line | EDJ-KQ4536 | Human | 2036 | Details Get a Quote |
| EPB41 Knockout HEK293 Cell Line | EDJ-KQ4541 | Human | 2035 | Details Get a Quote |
| EPB41L4B Knockout HEK293 Cell Line | EDJ-KQ11466 | Human | 54566 | Details Get a Quote |
| EPB41L4A Knockout HEK293 Cell Line | EDJ-KQ13298 | Human | 64097 | Details Get a Quote |
| EPB41L5 Knockout HEK293 Cell Line | EDJ-KQ13299 | Human | 57669 | Details Get a Quote |
| EPB41L3 Knockout A-549 Cell Line | EDJ-KQ26093 | Human | 23136 | Details Get a Quote |
| EPB41L2 Knockout HCT 116 Cell Line | EDJ-KQ27151 | Human | 2037 | Details Get a Quote |
| EPB41L2 Knockout HeLa Cell Line | EDJ-KQ27152 | Human | 2037 | Details Get a Quote |
| EPB41L1 Knockout A-549 Cell Line | EDJ-KQ27158 | Human | 2036 | Details Get a Quote |
| EPB41L1 Knockout HCT 116 Cell Line | EDJ-KQ27159 | Human | 2036 | Details Get a Quote |
| EPB41L1 Knockout HeLa Cell Line | EDJ-KQ27160 | Human | 2036 | Details Get a Quote |
| EPB41 Knockout A-549 Cell Line | EDJ-KQ27165 | Human | 2035 | Details Get a Quote |
| EPB41 Knockout HCT 116 Cell Line | EDJ-KQ27166 | Human | 2035 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
