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
- 28,887,073–29,120,052 (+)
- 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
- Instance of
- gene
- Image
- Protein EPB41 PDB 1gg3.png
Show 9 more facts
- HomoloGene ID
- 44324
- genetic association
- ALS
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2035
- genomic end
- 29446553
- genomic start
- 29213603
- chromosome
- human chromosome 1
- cytogenetic location
- 1p35.3
- expressed in
- bone marrow
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