Gene Gene information from NCBI Gene database.
Entrez ID 2035
Gene name Erythrocyte membrane protein band 4.1
Gene symbol EPB41
Synonyms (NCBI Gene)
4.1REL1HE
Chromosome 1
Chromosome location 1p35.3
Summary 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 ellipto
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs121434564 T>C,G Pathogenic Initiator codon variant, missense variant, coding sequence variant
rs869025285 GAATCAG>- Pathogenic Coding sequence variant, frameshift variant
rs1477424620 G>C,T Likely-pathogenic Intron variant, splice donor variant
rs1557948192 A>G Pathogenic Coding sequence variant, missense variant, initiator codon variant
rs1557948590 T>G Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
452
miRTarBase ID miRNA Experiments Reference
MIRT019288 hsa-miR-148b-3p Microarray 17612493
MIRT044608 hsa-miR-320a CLASH 23622248
MIRT043725 hsa-miR-342-3p CLASH 23622248
MIRT038089 hsa-miR-423-5p CLASH 23622248
MIRT037204 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005200 Function Structural constituent of cytoskeleton IMP 6894932
GO:0005200 Function Structural constituent of cytoskeleton TAS 6894932
GO:0005515 Function Protein binding IPI 8922391, 10692436, 11003675, 16060676, 16254212, 16669616, 20109190, 23870127, 24996901, 25416956, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
130500 3377 ENSG00000159023
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11171
Protein name Protein 4.1 (P4.1) (4.1R) (Band 4.1) (EPB4.1) (Erythrocyte membrane protein band 4.1)
Protein function 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
PDB 1GG3 , 2RQ1 , 3QIJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 214 277 FERM N-terminal domain Domain
PF00373 FERM_M 292 401 FERM central domain Domain
PF09380 FERM_C 405 494 FERM C-terminal PH-like domain Domain
PF08736 FA 499 542 FERM adjacent (FA) Family
PF04382 SAB 667 715 SAB domain Domain
PF05902 4_1_CTD 753 860 4.1 protein C-terminal domain (CTD) Domain
Sequence
MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDT
PTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGT
SLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECS
KIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVC
EHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRG
VPWNFTFNVKFYPPDPAQLTEDI
TRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQT
KELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLH
KAKDLEGVDIILGVCSSGL
LVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVC
VEHHTFFRLTSTDT
IPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRAS
RS
LDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKED
EPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIY
IRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNIN
GQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLD
PGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKE
AKEQHPDMSVTKVVVHQETE
IADE
Sequence length 864
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neurexins and neuroligins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
84
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Elliptocytosis 1 Likely pathogenic; Pathogenic rs2150754040, rs1160118901, rs2150273700, rs2151005632, rs2548448730, rs2548140072, rs2547564126, rs2548180428, rs2548658834, rs2548660142, rs121434564 RCV003339656
RCV001781038
RCV001781039
RCV001802366
RCV003146604
RCV003144949
RCV003159273
RCV005636924
RCV003486314
RCV005636990
RCV000018196
RCV000018198
EPB41-related disorder Likely pathogenic; Pathogenic rs537037014, rs2548180428 RCV003404613
RCV003400032
Hereditary elliptocytosis Pathogenic rs869025285 RCV000207065
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lymphoma Conflicting classifications of pathogenicity rs201674226 RCV005934876
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 11996670
Anemia Associate 2384597
Brain Concussion Associate 36403906
Brain Neoplasms Associate 15731777
Breast Neoplasms Associate 31063460
Carcinoma Squamous Cell Associate 29286069
Cardiomyopathy Dilated Inhibit 17298666
Cataract Age Related Nuclear Inhibit 34652259
Elliptocytosis 1 Associate 2384597, 2384598, 3134067
Elliptocytosis 1 Inhibit 8353290