EPB41L4A

Protein identityUniProt · HPA

UniProt accession

Q9HCS5

Gene

EPB41L4A

Ensembl

ENSG00000129595

Chromosome

5

Canonical length

686 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

686 residues, UniProt reviewed canonical sequence.

>Q9HCS5|EPB41L4A
     1  MGCFCAVPEE FYCEVLLLDE SKLTLTTQQQ GIKKSTKGSV VLDHVFHHVN LVEIDYFGLR
    61  YCDRSHQTYW LDPAKTLAEH KELINTGPPY TLYFGIKFYA EDPCKLKEEI TRYQFFLQVK
   121  QDVLQGRLPC PVNTAAQLGA YAIQSELGDY DPYKHTAGYV SEYRFVPDQK EELEEAIERI
   181  HKTLMGQIPS EAELNYLRTA KSLEMYGVDL HPVYGENKSE YFLGLTPVGV VVYKNKKQVG
   241  KYFWPRITKV HFKETQFELR VLGKDCNETS FFFEARSKTA CKHLWKCSVE HHTFFRMPEN
   301  ESNSLSRKLS KFGSIRYKHR YSGRTALQMS RDLSIQLPRP DQNVTRSRSK TYPKRIAQTQ
   361  PAESNSISRI TANMENGENE GTIKIIAPSP VKSFKKAKNE NSPDTQRSKS HAPWEENGPQ
   421  SGLYNSPSDR TKSPKFPYTR RRNPSCGSDN DSVQPVRRRK AHNSGEDSDL KQRRRSRSRC
   481  NTSSGSESEN SNREYRKKRN RIRQENDMVD SAPQWEAVLR RQKEKNQADP NNRRSRHRSR
   541  SRSPDIQAKE ELWKHIQKEL VDPSGLSEEQ LKEIPYTKIE TQGDPIRIRH SHSPRSYRQY
   601  RRSQCSDGER SVLSEVNSKT DLVPPLPVTR SSDAQGSGDA TVHQRRNGSK DSLMEEKPQT
   661  STNNLAGKHT AKTIKTIQAS RLKTET

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPB41L4A 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)

0.46

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPB41L4A.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 168 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Failure to thrive
• Spastic paraplegia

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)

1.01

gnomAD pLI

0

gnomAD missense Z

-1.26

DepMap mean gene effect

-0.02

DepMap dependency class

selective

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

• actomyosin structure organization

Molecular functions

• cytoskeletal protein binding

Cellular components

• cytoskeleton
• membrane

Protein domainsUniProt · Pfam · InterPro

• FERM domain
• Ezrin/radixin/moesin-like
• 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
• FERM adjacent (FA)
• FERM N-terminal domain
• FERM C-terminal PH-like domain
• Band 4.1-like protein 4A, FERM domain, F1 sub-domain

KeywordsUniProt

• Cytoplasm
• Cytoskeleton
• Phosphoprotein