Seroatlas · Human Serome Atlas

EPB41

Protein 4.1

Also known as: 4.1R, EL1, EPB41_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P11171
Gene
EPB41
Ensembl
ENSG00000159023
Chromosome
1
Canonical length
864 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nuclear bodies,Plasma membrane,Cell Junctions,Cytokinetic bridge,Mitotic spindle,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

864 residues, UniProt reviewed canonical sequence.

>P11171|EPB41
     1  MTTEKSLVTE AENSQHQQKE EGEEAINSGQ QEPQQEESCQ TAAEGDNWCE QKLKASNGDT
    61  PTHEDLTKNK ERTSESRGLS RLFSSFLKRP KSQVSEEEGK EVESDKEKGE GGQKEIEFGT
   121  SLDEEIILKA PIAAPEPELK TDPSLDLHSL SSAETQPAQE ELREDPDFEI KEGEGLEECS
   181  KIEVKEESPQ SKAETELKAS QKPIRKHRNM HCKVSLLDDT VYECVVEKHA KGQDLLKRVC
   241  EHLNLLEEDY FGLAIWDNAT SKTWLDSAKE IKKQVRGVPW NFTFNVKFYP PDPAQLTEDI
   301  TRYYLCLQLR QDIVAGRLPC SFATLALLGS YTIQSELGDY DPELHGVDYV SDFKLAPNQT
   361  KELEEKVMEL HKSYRSMTPA QADLEFLENA KKLSMYGVDL HKAKDLEGVD IILGVCSSGL
   421  LVYKDKLRIN RFPWPKVLKI SYKRSSFFIK IRPGEQEQYE STIGFKLPSY RAAKKLWKVC
   481  VEHHTFFRLT STDTIPKSKF LALGSKFRYS GRTQAQTRQA SALIDRPAPH FERTASKRAS
   541  RSLDGAAAVD SADRSPRPTS APAITQGQVA EGGVLDASAK KTVVPKAQKE TVKAEVKKED
   601  EPPEQAEPEP TEAWKVEKTH IEVTVPTSNG DQTQKLAEKT EDLIRMRKKK RERLDGENIY
   661  IRHSNLMLED LDKSQEEIKK HHASISELKK NFMESVPEPR PSEWDKRLST HSPFRTLNIN
   721  GQIPTGEGPP LVKTQTVTIS DNANAVKSEI PTKDVPIVHT ETKTITYEAA QTDDNSGDLD
   781  PGVLLTAQTI TSETPSSTTT TQITKTVKGG ISETRIEKRI VITGDADIDH DQVLVQAIKE
   841  AKEQHPDMSV TKVVVHQETE IADE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPB41 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.5
Highest tissue expression
74 nTPM

Expression across tissuesHPA

Tissue

  • retina: 74 nTPM
  • thymus: 64 nTPM
  • bone marrow: 60 nTPM
  • cerebellum: 36 nTPM
  • lymph node: 35 nTPM
  • tonsil: 35 nTPM

Single-cell type

  • rod photoreceptor cells: 1,120 nCPM
  • cone photoreceptor cells: 901 nCPM
  • neutrophils: 879 nCPM
  • retinal bipolar cells: 769 nCPM
  • retinal ganglion cells: 525 nCPM
  • platelets: 497 nCPM

Immune cell

  • neutrophil: 45 nTPM
  • basophil: 34 nTPM
  • T-reg: 29 nTPM
  • naive CD4 T-cell: 22 nTPM
  • eosinophil: 22 nTPM
  • memory CD4 T-cell: 18 nTPM

Brain region

  • cerebellum: 93 nTPM
  • basal ganglia: 43 nTPM
  • pons: 23 nTPM
  • medulla oblongata: 19 nTPM
  • cerebral cortex: 17 nTPM
  • midbrain: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPB41.

Disease | AllUniProt

Conditions EPB41 is implicated in, by any mechanism.

Disease | GeneticClinVar

36 pathogenic / likely-pathogenic of 294 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Elliptocytosis 1
  • EPB41-related disorder
  • Hereditary elliptocytosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.52
gnomAD pLI
0
gnomAD missense Z
0.92
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EPB41 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EPB41 as an antibody target. Whether an autoantibody or antibody against EPB41 could matter depends on whether native EPB41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPB41 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EPB41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EPB41. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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