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Tbio
EPB41
Protein 4.1

Protein Classes
Protein Summary
Description
Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000343067
  • ENSP00000345259
  • ENSG00000159023
  • ENST00000347529
  • ENSP00000290100
  • ENST00000373797
  • ENSP00000362903
  • ENST00000373798
  • ENSP00000362904
  • ENST00000373800
  • ENSP00000362906
  • ENST00000642260
  • ENSP00000495565

Symbol
  • E41P
  • HE
  • EL1
  • 4.1R
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
1
kinase perturbation
0.97
transcription factor
0.94
hub protein
0.92
interacting protein
0.88


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 737.27   (req: < 5)
Gene RIFs: 58   (req: <= 3)
Antibodies: 324   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 737.27   (req: >= 5)
Gene RIFs: 58   (req: > 3)
Antibodies: 324   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
3
3
70.8
mean corpuscular volume
1
2
2
68.2
sex hormone-binding globulin measurement
1
1
1
57.5
reticulocyte measurement
2
1
2
47.2
reticulocyte count
2
1
2
46.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
3
70.8
mean corpuscular volume
2
68.2
sex hormone-binding globulin measurement
1
57.5
reticulocyte measurement
2
47.2
reticulocyte count
2
46.3
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
erythrocyte membrane protein band 4.1
VGNC:8911
456689
Mouse
MGI:95401
269587
Dog
erythrocyte membrane protein band 4.1
VGNC:40392
442955
Horse
erythrocyte membrane protein band 4.1
VGNC:17608
100056416
Cow
erythrocyte membrane protein band 4.1
VGNC:28519
281753
Species
Name
OMA
EggNOG
Inparanoid
Chimp
erythrocyte membrane protein band 4.1
Mouse
Dog
erythrocyte membrane protein band 4.1
Horse
erythrocyte membrane protein band 4.1
Cow
erythrocyte membrane protein band 4.1
Protein Structure (3 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P11171-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (7)
Neurexins and neuroligins (R-HSA-6794361)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Neurexins and neuroligins
Reactome
Neuronal System
Reactome
Protein-protein interactions at synapses
Name
Explore in Pharos
Explore in Source
Neurexins and neuroligins
Neuronal System
Protein-protein interactions at synapses
Gene Ontology Terms (27)
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Mutant Phenotype (IMP)
CAFA
Inferred from Mutant Phenotype (IMP)
CAFA
Inferred from Mutant Phenotype (IMP)
CAFA
Traceable Author Statement (TAS)
BHF-UCL
Traceable Author Statement (TAS)
ProtInc
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (133)
1 – 10 of 133
EPB41L1
Tbio
Novelty: 0.02937451
p_int: 0.997235216
p_ni: 0.002764783
p_wrong: 1e-9
Score: 0.908
Data Source: BioPlex,STRINGDB
EPB41L3
Tbio
Novelty: 0.00915217
p_int: 0.996128988
p_ni: 0.003871012
Score: 0.908
Data Source: BioPlex,STRINGDB
CASK
Tchem
Family: Kinase
Novelty: 0.00856437
Score: 0.965
Data Source: Reactome,STRINGDB
NRXN2
Tbio
Novelty: 0.01252742
Score: 0.963
Data Source: STRINGDB
NRXN2
Tbio
Novelty: 0.01252742
Score: 0.963
Data Source: STRINGDB
NRXN3
Tbio
Novelty: 0.00999084
Score: 0.961
Data Source: STRINGDB
NRXN3
Tbio
Novelty: 0.00999084
Score: 0.961
Data Source: STRINGDB
NRXN1
Tbio
Novelty: 0.00454659
Score: 0.96
Data Source: STRINGDB
NRXN1
Tbio
Novelty: 0.00454659
Score: 0.96
Data Source: STRINGDB
SDC2
Tbio
Novelty: 0.00597758
Score: 0.928
Data Source: STRINGDB
Publication Statistics
PubMed Score  737.27

PubMed score by year
PubTator Score  572.46

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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