InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EPB41

Summary

InnateDB Gene

IDBG-95304.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPB41

Gene Name

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

Synonyms

4.1R; EL1; HE

Species

Homo sapiens

Ensembl Gene

ENSG00000159023

Encoded Proteins

IDBP-95306

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

IDBP-95308

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

IDBP-95310

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

IDBP-95314

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

IDBP-95316

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

IDBP-95318

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

IDBP-95320

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:28887091-29120046

Strand

Forward strand

Band

p35.3

Transcripts

ENST00000356093	ENSP00000348397
ENST00000347529	ENSP00000290100
ENST00000349460	ENSP00000317597
ENST00000373800	ENSP00000362906
ENST00000373798	ENSP00000362904
ENST00000373797	ENSP00000362903
ENST00000343067	ENSP00000345259
ENST00000482464
ENST00000488277
ENST00000490308
ENST00000460378
ENST00000462032

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	33 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005545	1-phosphatidylinositol binding
GO:0008092	cytoskeletal protein binding
GO:0030507	spectrin binding

Biological Process

GO:0008015	blood circulation
GO:0030036	actin cytoskeleton organization
GO:0030866	cortical actin cytoskeleton organization
GO:0032092	positive regulation of protein binding

Cellular Component

GO:0005634	nucleus
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0008091	spectrin
GO:0014731	spectrin-associated cytoskeleton
GO:0016020	membrane
GO:0019898	extrinsic component of membrane
GO:0030863	cortical cytoskeleton
GO:0043234	protein complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028906

View Gene Order

ENSBTAG00000006667

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04530

Tight junction pathway

INOH

PID NCI

syndecan_2_pathway

Syndecan-2-mediated signaling events

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.175437

RefSeq

NM_001166005 NM_001166006 NM_001166007 NM_004437 NM_203342 NM_203343 XM_005245761 XM_005245764

HUGO

OMIM

CCDS

CCDS330 CCDS331 CCDS332 CCDS53288 CCDS53289

HPRD

00558

IMGT

EMBL

GenPept

RNA Seq Atlas