EPB41L1

Protein identityUniProt · HPA

UniProt accession

Q9H4G0

Gene

EPB41L1

Ensembl

ENSG00000088367

Chromosome

20

Canonical length

881 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

881 residues, UniProt reviewed canonical sequence.

>Q9H4G0|EPB41L1
     1  MTTETGPDSE VKKAQEEAPQ QPEAAAAVTT PVTPAGHGHP EANSNEKHPS QQDTRPAEQS
    61  LDMEEKDYSE ADGLSERTTP SKAQKSPQKI AKKYKSAICR VTLLDASEYE CEVEKHGRGQ
   121  VLFDLVCEHL NLLEKDYFGL TFCDADSQKN WLDPSKEIKK QIRSSPWNFA FTVKFYPPDP
   181  AQLTEDITRY YLCLQLRADI ITGRLPCSFV THALLGSYAV QAELGDYDAE EHVGNYVSEL
   241  RFAPNQTREL EERIMELHKT YRGMTPGEAE IHFLENAKKL SMYGVDLHHA KDSEGIDIML
   301  GVCANGLLIY RDRLRINRFA WPKILKISYK RSNFYIKIRP GEYEQFESTI GFKLPNHRSA
   361  KRLWKVCIEH HTFFRLVSPE PPPKGFLVMG SKFRYSGRTQ AQTRQASALI DRPAPFFERS
   421  SSKRYTMSRS LDGAEFSRPA SVSENHDAGP DGDKRDEDGE SGGQRSEAEE GEVRTPTKIK
   481  ELKPEQETTP RHKQEFLDKP EDVLLKHQAS INELKRTLKE PNSKLIHRDR DWERERRLPS
   541  SPASPSPKGT PEKANERAGL REGSEEKVKP PRPRAPESDT GDEDQDQERD TVFLKDNHLA
   601  IERKCSSITV SSTSSLEAEV DFTVIGDYHG SAFEDFSRSL PELDRDKSDS DTEGLLFSRD
   661  LNKGAPSQDD ESGGIEDSPD RGACSTPDMP QFEPVKTETM TVSSLAIRKK IEPEAVLQTR
   721  VSAMDNTQQV DGSASVGREF IATTPSITTE TISTTMENSL KSGKGAAAMI PGPQTVATEI
   781  RSLSPIIGKD VLTSTYGATA ETLSTSTTTH VTKTVKGGFS ETRIEKRIII TGDEDVDQDQ
   841  ALALAIKEAK LQHPDMLVTK AVVYRETDPS PEERDKKPQE S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPB41L1 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)

0.51

Highest tissue expression

115 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPB41L1.

Disease | AllUniProt

Conditions EPB41L1 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal dominant 11 (MRD11) MIM:614257

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 212 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Abnormal brain morphology

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)

0.34

gnomAD pLI

0.88

gnomAD missense Z

1.94

DepMap mean gene effect

0.12

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actomyosin structure organization
• cortical actin cytoskeleton organization

Molecular functions

• actin binding
• structural molecule activity

Cellular components

• cytoskeleton
• cytosol
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• FERM domain
• Ezrin/radixin/moesin-like
• SAB domain
• Band 4.1, C-terminal
• PH-like domain superfamily
• FERM/acyl-CoA-binding protein superfamily
• FERM adjacent
• FERM, N-terminal
• FERM, C-terminal PH-like domain
• FERM conserved site
• FERM central domain
• Band 4.1 domain
• Ubiquitin-like domain superfamily
• FERM superfamily, second domain
• FERM central domain
• SAB domain
• 4.1 protein C-terminal domain (CTD)
• FERM adjacent (FA)
• FERM N-terminal domain
• FERM C-terminal PH-like domain

KeywordsUniProt

• Acetylation
• Actin-binding
• Cytoplasm
• Cytoskeleton
• Intellectual disability
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of EPB41L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AGAP2
• CADM3
• GRIA4
• CLNS1A