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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EPB41 Gene

protein-coding GIFtS: 60
GCID: GC01P029213

erythrocyte membrane protein band 4.1 (elliptocytosis 1,...

(Previous symbol: EL1)

Explore 19 diseases affiliated with
EPB41 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Erythrocyte Membrane Protein Band 4.1 (Elliptocytosis 1, RH-Linked)¹ ²		P4.1² ³
4.1R¹ ² ³		HE²
EL1¹ ² ⁵		Erythrocyte Surface Protein Band 4.1²
Band 4.1² ³		Protein 4.1²
EPB4.1² ³		E41P³

External Ids:	HGNC: 3377¹	Entrez Gene: 2035²	Ensembl: ENSG00000159023⁷	OMIM: 130500⁵	UniProtKB: P11171³

Export aliases for EPB41 gene to outside databases

Previous GC identifers: GC01P029320 GC01P028379 GC01P028718 GC01P029002 GC01P029003 GC01P029034 GC01P027466

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EPB41:

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)

UniProtKB/Swiss-Prot: 41_HUMAN, P11171

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 membranes

Gene Wiki entry for EPB41

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EPB41 gene promoter:
Bach1 STAT1 MAZR STAT1beta AP-4 STAT1alpha C/EBPalpha CHOP-10 GATA-6 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPB41 promoter sequence

Search SABiosciences Chromatin IP Primers for EPB41

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p33-p32 Ensembl cytogenetic band: 1p35.3 HGNC cytogenetic band: 1p33-p32

EPB41 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P029213: view genomic region (about GC identifiers)

Start:	29,213,603 bp from pter	End:	29,446,558 bp from pter
Size:	232,956 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 41_HUMAN, P11171 (See protein sequence)

Recommended Name: Protein 4.1

Size: 864 amino acids; 97017 Da

Subunit: Binds with a high affinity to glycophorin and with lower affinity to band III protein. Associates with the

nuclear mitotic apparatus. Binds calmodulin, CENPJ and DLG1. Also found to associate with contractile apparatus and

tight junctions

Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus

3 PDB 3D structures from and Proteopedia for EPB41:

1GG3 (3D)

2RQ1 (3D)

3QIJ (3D)

Secondary accessions: B1ALH8 B1ALH9 D3DPM9 D3DPN0 P11176 Q14245 Q5TB35 Q5VXN8 Q8IXV9 Q9Y578 Q9Y579

Alternative splicing: 7 isoforms: P11171-1 P11171-2 P11171-3 P11171-4 P11171-5 P11171-6 P11171-7

Explore the universe of human proteins at neXtProt for EPB41: NX_P11171

Post-translational modifications:

Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the

protein's functions¹

Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex¹

O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11171

EPB41 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001159477.1 NP_001159478.1 NP_001159479.1 NP_004428.1 NP_976217.1 NP_976218.1

ENSEMBL proteins:

ENSP00000362906 ENSP00000317597 ENSP00000290100 ENSP00000362904 ENSP00000362903

ENSP00000345259 ENSP00000348397 ENSP00000381839

Human Recombinant Protein Products for EPB41:

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	Novus Biologicals EPB41 Protein Novus Biologicals EPB41 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EPB41

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005794	Golgi apparatus	IDA	--
GO:0005856	cytoskeleton	--	--
GO:0005886	plasma membrane	IDA	--
GO:0008091	spectrin	TAS	6894932

EPB41 for ontologies About GeneDecksing

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Assay Products for EPB41:

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	Uscn ELISAs and CLIAs for EPB41

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

EPB41 for domains About GeneDecksing

5/14 InterPro domains/families (see all 14):

IPR019748 FERM_central

IPR018980 FERM_PH-like_C

IPR019750 Band_41_fam

IPR000798 Ez/rad/moesin

IPR019749 Band_41_domain

Graphical View of Domain Structure for InterPro Entry P11171

ProtoNet protein and cluster: P11171

2 Blocks protein families:

IPB000299 Band 4.1 domain

IPB007477 SAB

UniProtKB/Swiss-Prot: 41_HUMAN, P11171

Similarity: Contains 1 FERM domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: 41_HUMAN, P11171

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 membranes

Genatlas biochemistry entry for EPB41:

erythrocyte surface protein,band 4.1,80kDa,with a complex tissue-specific and developmentally regulated erythroid and

non erythroid expression pattern resulting from extensive alternative pre m-RNA splicing,two possible initiation sites

and post translational modification,located in cytoplasm and/or nucleus in non erythroid cells,binding F-actin to

spectrin dimers and crucial for the maintenance of integral membrane red blood cell shape,ezrin/moesin/radixin-like

(ERM) family member, responding and participating in reorganization of membrane-cytoplasmic interactions

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005198	structural molecule activity	--	--
GO:0005200	structural constituent of cytoskeleton	TAS	6894932
GO:0005515	protein binding	IPI	8922391
GO:0005516	calmodulin binding	IEA	--

EPB41 for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Epb4.1):

hematopoietic system

homeostasis/metabolism

immune system

liver/biliary system

renal/urinary system

EPB41 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EPB41

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		hsa-miR-579 hsa-miR-361-5p hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-30d hsa-miR-30a hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: EPB41 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Epithelial Tight Junctions

0.36

Syndecan-2-mediated signaling events

Syndecan-2-mediated signaling events

1.00

Tight junction

Tight junction

1.00

PAK Pathway

Epithelial Adherens Junctions

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPB41

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Tight Junctions
	Epithelial Adherens Junctions

1 BioSystems Pathway for EPB41

Syndecan-2-mediated signaling events

1 Kegg Pathway (Kegg details for EPB41):

Tight junction

EPB41 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EPB41

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/145 Interacting proteins for EPB41 (P11171^{2, 3} ENSP00000290100⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 145)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CASK	O14936²^,³, ENSP00000367408⁴	MINT-17057 I2D: score=5 STRING: ENSP00000367408
SMAD3	P84022²^,³, ENSP00000332973⁴	MINT-51239 I2D: score=3 STRING: ENSP00000332973
GYPC	P04921²^,³, ENSP00000259254⁴	MINT-8306864 I2D: score=2 STRING: ENSP00000259254
SPTB	P11277³, ENSP00000374372⁴	I2D: score=3 STRING: ENSP00000374372
ACTA1	P68133³, ENSP00000355645⁴	I2D: score=2 STRING: ENSP00000355645

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008015	blood circulation	TAS	6894932
GO:0030036	actin cytoskeleton organization	NAS	8434260
GO:0030866	cortical actin cytoskeleton organization	IEA	--
GO:0032092	positive regulation of protein binding	IDA	3693401

EPB41 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EPB41 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EPB41
2 Novoseek chemical compound relationships for EPB41 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	0	5	11224681 (1), 11017195 (1)
glutamate	0	1	17298666 (1)

Search CenterWatch for drugs/clinical trials and news about EPB41 / 41

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EPB41 gene (6 alternative transcripts):

NM_001166005.1 NM_001166006.1 NM_001166007.1 NM_004437.3 NM_203342.2 NM_203343.2

Unigene Cluster for EPB41:

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

Hs.175437 [show with all ESTs]

Unigene Representative Sequence: BC081539

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000482464 ENST00000373800 ENST00000349460(uc021okg.1) ENST00000347529

ENST00000373798(uc001brl.2 uc009vtm.2 uc009vtl.2 uc009vtn.2)

ENST00000373797(uc009vtk.2 uc001brk.3) ENST00000488277 ENST00000490308

ENST00000460378 ENST00000462032 ENST00000343067(uc001brm.2 uc001brg.2)

ENST00000356093(uc001brh.2 uc001brj.2 uc001bri.2) ENST00000398863

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		8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41 (see all 87):
		hsa-miR-579 hsa-miR-361-5p hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-30d hsa-miR-30a hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: EPB41 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41

Additional cDNA sequence:

AB209649.1 AF156225.1 AK172796.1 AK299093.1 AK299736.1 AK307816.1 AK310655.1 BC009063.1

BC039079.1 BC081539.1 BC096104.1 BC096105.1 BC113841.1 BC114450.1 J03796.1 M14993.1

M61733.1

18 DOTS entries:

DT.100827927 DT.444098 DT.99939612 DT.91996271 DT.100718032 DT.100827925 DT.100827924 DT.100827922

DT.100827930 DT.121442050 DT.101983016 DT.121441960 DT.92420651 DT.100819984 DT.121441976 DT.92420646

DT.95069023 DT.92420649

24/370 AceView cDNA sequences (see all 370):

BM465039 NM_203343 CR622465 AA448885 BC009063 AL041809 BU736589 CR601097

BG943340 AI638770 BU164992 BU159552 AL520065 BX492942 J03796 AA342636

BM454463 BC039079 NM_203342 AI656046 AI810252 BX952914 AA911247 NM_004437

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41 (see all 12) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	·	4c	·	4d	·	4e	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	·
SP1:																			-
SP2:																																													-
SP3:																			-																								-		-
SP4:																																											-		-
SP5:					-		-												-						-																		-		-		-

ExUns:	19c	^	20	^	21a	·	21b	^	22	^	23a	·	23b	^	24	^	25	^	26	^	27a	·	27b
SP1:	-		-		-		-		-
SP2:	-		-		-		-		-
SP3:	-		-		-		-		-
SP4:	-		-		-		-		-						-
SP5:	-		-		-		-		-

ECgene alternative splicing isoforms for EPB41

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EPB41 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGACTCTGG

About this image

EPB41 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Early limb mesenchymal cells (ELM cells) (Primary Cell)

Bone, Cartilage, Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See EPB41 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EPB41

SOURCE GeneReport for Unigene cluster: Hs.175437

SABiosciences Expression via Pathway-Focused PCR Array including EPB41:

Tight Junctions in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for EPB41 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EPB41¹	erythrocyte membrane protein band 4.1 (elliptocytosis more	74.48(n) 79.37(a)		396493 NM_001168004.1 NP_001161476.1
lizard (Anolis carolinensis)	Reptilia	EPB41⁶	--	65(a)	1 ↔ 1	GL344047.1(19219-43340)
African clawed frog (Xenopus laevis)	Amphibia	LOC397741²	cytoskeletal protein 4.1	76.32(n)		M20621.1
zebrafish (Danio rerio)	Actinopterygii	epb41a⁶ epb41b⁶	erythrocyte membrane protein band 4.1a (elliptocyt... erythrocyte membrane protein band 4.1b (elliptocyt...	40(a) 15(a)	1 ↔ many 1 ↔ many	19(30165748-30225681) 16(28700399-28738953)
fruit fly (Drosophila melanogaster)	Insecta	cora³	cytoskeleton organization and biogenesis cytoskeletal more	59(a) (best of 2)		56C4 --

ENSEMBL Gene Tree for EPB41 (if available)
TreeFam Gene Tree for EPB41 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for EPB41 gene

EPB41L5² FRMD3² EPB41L1² EPB41L4B² FARP1² FRMD5² MYLIP² EPB41L3²

FRMD7² EPB41L4A² FARP2² EPB41L2²

14 SIMAP similar genes for EPB41 using alignment to 6 protein entries: 41_HUMAN (see all proteins):

DKFZp564J1082 EPB41L1 PTPN4 EPB41L2 EPB41L4B EPB41L4A

FRMD5 FRMD3 EPB41L5 EPB41L3 FARP1 FARP2

RDX MSN

EPB41 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434564^1,2	C	pathogenic	27571550(+)	`GAACAC/G/TGCACT`	18	T R M	mis¹		0	--	--	--	--
rs459273^1,2	H	--	27464127(-)	`ACTCAG/CCAGTG`	5	--	us2k¹ tfbs³		4		NS EA	398
rs78130142^1,2	F	--	27464508(+)	`GGCGGG/ATGCCT`	5	--	us2k¹		1		WA	118
rs111748269^1,2		--	27464855(+)	`TATGGG/ACTCCT`	5	--	us2k¹		3		CSA WA	121
rs12406281^1,2	C,H	--	27465222(+)	`GAAGTC/TTAGTT`	5	--	us2k¹		6		NS EA NA	418
rs56317116^1,2	F	--	27465254(+)	`ACTACA/TTTCAG`	5	--	us2k¹		1		WA	118
rs75495573^1,2	F	--	27465518(+)	`GAAGCG/ATTGAT`	5	--	us2k¹		1		WA	118
rs74065142^1,2	C	--	27466029(+)	`CTCCCC/GCTCCC`	5	--	us2k¹		2		WA	120
rs74467003^1,2	F	--	27466388(+)	`CCGAAC/GTTGGG`	5	--	int¹		1		WA	118
rs77471443^1,2	F	--	27467134(+)	`GTTGGG/AGAAGA`	5	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for EPB41 (29213603 - 29446558 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for EPB41
4 CNVs: 63355 74425 84153 38989
4 Indels: 84154 74427 74426 74428
Human Gene Mutation Database (HGMD): EPB41

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EPB41 for disorders           About GeneDecksing

OMIM gene information: 130500
OMIM disorders: 611804
UniProtKB/Swiss-Prot: 41_HUMAN, P11171

Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:611804]. EL1 is a Rhesus-linked form of

hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized

by variable hemolytic anemia and elliptical or oval red cell shape

Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP is an autosomal

recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual

thermal sensitivity of red cells

19 diseases for EPB41: About MalaCards

elliptocytosis elliptocytosis-1 purulent labyrinthitis serous labyrinthitis

labyrinthitis hereditary elliptocytosis pyropoikilocytosis hereditary spherocytosis

spherocytosis neuroacanthocytosis sickle cell disease myeloid malignancy

ependymoma neurofibromatosis rabies meningioma

lung cancer neuroblastoma malaria

5 diseases from the University of Copenhagen DISEASES database for EPB41:

Hereditary elliptocytosis Meningioma Anemia Neurofibromatosis

Malaria

2 Novoseek disease relationships for EPB41 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
elliptocytosis hereditary	84.5	2	12432217 (1), 15071791 (1)
tumors	0	2	16157202 (2)

Human Genome Epidemiology (HuGE) Navigator: EPB41 (2 documents)

Export disorders for EPB41 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for EPB41 gene, integrated from 9 sources (see all 128):
(articles sorted by number of sources associating them with EPB41)

Utopia: connect your pdf to the dynamic
world of online information

An alternative domain containing a leucine-rich sequence regulates nuclear cytoplasmic localization of protein 4.1R. (PubMed id 12427749)^{1, 2, 9} Luque C.M.... Correas I. (2003)
Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. (PubMed id 11017195)^{1, 2, 9} Han B.-G.... Jap B.K. (2000)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase. (PubMed id 15525677)^{1, 2} Huang S.-C.... Benz E.J. Jr. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Properties of the C-terminal domain of 4.1 proteins. (PubMed id 11432737)^{1, 2} Scott C.... Baines A.J. (2001)
Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex. (PubMed id 11003675)^{1, 2} Hung L.-Y.... Tang T.K. (2000)
Ca(2+)-dependent and Ca(2+)-independent calmodulin binding sites in erythrocyte protein 4.1. Implications for regulation of protein 4.1 interactions with transmembrane proteins. (PubMed id 10692436)^{1, 2} Nunomura W.... Mohandas N. (2000)
Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. (PubMed id 7937897)^{1, 2} Lue R.A.... Chishti A.H. (1994)
Phosphorylation of protein 4.1 on tyrosine-418 modulates its function in vitro. (PubMed id 1647028)^{1, 2} Subrahmanyan G.... Anderson R.A. (1991)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2035	HGNC: 3377	AceView: EPB41	Ensembl:ENSG00000159023	euGenes: HUgn2035
ECgene: EPB41	Kegg: 2035	H-InvDB: EPB41

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EPB41	Pharmacogenomics, SNPs, Pathways

Intellectual Property for EPB41 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EPB41 gene:
Search GeneIP for patents involving EPB41

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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