EPB41
Sign in to saveAlso known as erythrocyte membrane protein band 4.1, 4.1R, EL1, HE
protein-coding gene in the species Homo sapiens
Gene data
EPB41- Name
- erythrocyte membrane protein band 4.1
- Type
- protein-coding
- Position
- 28,887,091–29,120,046 (+)
- Aliases
- 4.1R, EL1, HE
- Ensembl
- ENSG00000159023
- RefSeq RNA
- NM_001166005.2, NM_001166006.2, NM_001166007.2, NM_001376013.1, NM_001376014.1
- RefSeq protein
- NP_001159477.1, NP_001159478.1, NP_001159479.1, NP_001362942.1, NP_001362943.1
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
erythrocyte membrane protein band 4.1
- Symbol
- EPB41
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:28,887,073-29,120,052
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein EPB41 PDB 1gg3.png
Show 5 more facts
- HomoloGene ID
- 44324
- exact match
- identifiers.org/ncbigene/2035
- genomic end
- 29446553
- genomic start
- 29213603
- cytogenetic location
- 1p35.3
via Wikidata · CC0
Connections
Q180686
Entity
human chromosome 1
Entity
Ensembl genome database project
Entity
protein
Entity
International Standard Book Number
Entity
Wikidata
Entity
gene
Entity
chromosome
Entity
red blood cell
Entity
anemia
Entity
digital object identifier
Entity
cytoskeleton
Entity
bibcode
Entity
human genome
Entity
Q229883
Entity
actin
Entity
base pair
Entity
Medical Subject Headings
Entity
locus
Entity
gene expression
Entity