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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EPB41L1 Gene

protein-coding GIFtS: 64
GCID: GC20P034679

erythrocyte membrane protein band 4.1-like 1

Explore 6 diseases affiliated with
EPB41L1 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-Like 1¹ ²		MRD11²
KIAA0338¹ ³		Band 4.1-Like Protein 1²
Neuronal Protein 4.1² ³		Neuron-Type Nonerythroid Protein 4.1²
4.1N² ³

External Ids:	HGNC: 3378¹	Entrez Gene: 2036²	Ensembl: ENSG00000088367⁷	OMIM: 602879⁵	UniProtKB: Q9H4G0³

Export aliases for EPB41L1 gene to outside databases

Previous GC identifers: GC20P034501 GC20P035347 GC20P035394 GC20P035415 GC20P034142 GC20P031477

(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 EPB41L1:

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the

erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a neuronally-enriched

protein that is structurally similar to EPB41. 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, Apr 2012)

UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0

Function: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the

spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases

Gene Wiki entry for EPB41L1

(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_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EPB41L1 gene promoter:
SRF USF1 RFX1 SRF (504 AA) USF2 USF-1:USF-2 CUTL1 POU3F2 AREB6 USF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPB41L1 promoter sequence

Search SABiosciences Chromatin IP Primers for EPB41L1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L1

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

Entrez Gene cytogenetic band: 20q11.2-q12 Ensembl cytogenetic band: 20q11.23 HGNC cytogenetic band: 20q11.2-q12

EPB41L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P034679: view genomic region (about GC identifiers)

Start:	34,679,426 bp from pter	End:	34,820,721 bp from pter
Size:	141,296 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: E41L1_HUMAN, Q9H4G0 (See protein sequence)

Recommended Name: Band 4.1-like protein 1

Size: 881 amino acids; 98503 Da

Subunit: Interacts with AGAP2

Subcellular location: Cytoplasm, cytoskeleton

Sequence caution: Sequence=BAA20796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: O15046 Q4VXM6 Q4VXM7 Q4VXM8 Q4VXN4 Q6ZT61 Q8IUU7 Q96CV5 Q96L65

Alternative splicing: 4 isoforms: Q9H4G0-1 Q9H4G0-2 Q9H4G0-3 Q9H4G0-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EPB41L1: NX_Q9H4G0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H4G0

EPB41L1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001245258.1 NP_001245259.1 NP_001245260.1 NP_036288.2 NP_818932.1

ENSEMBL proteins:

ENSP00000202028 ENSP00000393106 ENSP00000385244 ENSP00000404341 ENSP00000363061

ENSP00000413262 ENSP00000396366 ENSP00000408877 ENSP00000363056 ENSP00000337168

ENSP00000363052 ENSP00000406464 ENSP00000388281 ENSP00000390262 ENSP00000363057

ENSP00000363062 ENSP00000399214

Reactome Protein details: Q9H4G0
Human Recombinant Protein Products:

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	OriGene Purified Protein: EPB41L1 OriGene Protein Over-expression Lysate (see all 3): EPB41L1 OriGene Custom Protein Services for EPB41L1
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	Novus Biologicals EPB41L1 Proteins Novus Biologicals EPB41L1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EPB41L1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0019898	extrinsic to membrane	IEA	--

EPB41L1 for ontologies About GeneDecksing

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	Uscn Antibodies for EPB41L1
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Assay Products for EPB41L1:

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	Uscn ELISAs and CLIAs for EPB41L1

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

EPB41L1 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 Q9H4G0

ProtoNet protein and cluster: Q9H4G0

3 Blocks protein families:

IPB000299 Band 4.1 domain

IPB000798 ERM family signature

IPB007477 SAB

UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0

Function: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the

spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases

Genatlas biochemistry entry for EPB41L1:

erythrocyte surface protein 4.1-like 1,strongly expressed in the brain

miRNA Products:		OriGene 3'-UTR Clone (see all 2): EPB41L1 Browse MicroRNA Expression Plasmids
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		8/119 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L1 (see all 119):
		hsa-miR-411* hsa-miR-642a hsa-miR-300 hsa-miR-15a hsa-miR-128 hsa-miR-485-3p hsa-miR-605 hsa-miR-632

		SwitchGear 3'UTR luciferase reporter plasmid: EPB41L1 3' UTR sequence

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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005198	structural molecule activity	IEA	--
GO:0005515	protein binding	--	--
GO:0008092	cytoskeletal protein binding	--	--

EPB41L1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for EPB41L1:

Decreased Salmonella enterica

Animal Models:
Mouse knock-out Epb4.1l1^{Epb4.tm1.1Aliv} for EPB41L1
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Epb4.1l1):

nervous system

no phenotypic analysis

normal

EPB41L1 for phenotypes About GeneDecksing

(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

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity

Trafficking of AMPA receptors

1.00

Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity

1.00

Development HGF signaling pathway

Apoptosis and survival_NGF signaling pathway

0.25

Apoptosis and survival NGF signaling pathway

0.25

Tight junction

Tight junction

1.00

Trk receptor signaling mediated by PI3K and PLC-gamma

Trk receptor signaling mediated by PI3K and PLC-gamma

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for EPB41L1

Apoptosis and survival NGF signaling pathway

1 GeneGo (Thomson Reuters) Pathway for EPB41L1

Apoptosis and survival NGF signaling pathway

1 BioSystems Pathway for EPB41L1

Trk receptor signaling mediated by PI3K and PLC-gamma

5 Reactome Pathways for EPB41L1

	Trafficking of AMPA receptors
	Transmission across Chemical Synapses
	Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

1 Kegg Pathway (Kegg details for EPB41L1):

Tight junction

EPB41L1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EPB41L1

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

5/32 Interacting proteins for EPB41L1 (Q9H4G0³ ENSP00000337168⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
STARD13	Q9Y3M8³, ENSP00000338785⁴	I2D: score=5 STRING: ENSP00000338785
ITPR1	Q14643³, ENSP00000405934⁴	I2D: score=3 STRING: ENSP00000405934
AGAP2	Q99490³, ENSP00000328160⁴	I2D: score=3 STRING: ENSP00000328160
GRIA1	P42261³, ENSP00000285900⁴	I2D: score=2 STRING: ENSP00000285900
GRIA4	P48058³, ENSP00000282499⁴	I2D: score=1 STRING: ENSP00000282499

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007268	synaptic transmission	TAS	--
GO:0030866	cortical actin cytoskeleton organization	IEA	--

EPB41L1 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EPB41L1
Search CenterWatch for drugs/clinical trials and news about EPB41L1 / E41L1

(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, 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 EPB41L1 gene (5 alternative transcripts):

NM_001258329.1 NM_001258330.1 NM_001258331.1 NM_012156.2 NM_177996.2

Unigene Cluster for EPB41L1:

Erythrocyte membrane protein band 4.1-like 1

Hs.743243 [show with all ESTs]

Unigene Representative Sequence: BX537978

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

ENST00000202028 ENST00000432589 ENST00000406771 ENST00000430276 ENST00000373950

ENST00000452261 ENST00000447825 ENST00000427533 ENST00000373945 ENST00000338074(uc010zvo.1 uc002xev.3 uc002xew.3 uc002xey.3 uc002xfb.3 uc010gfq.3)

ENST00000373941 ENST00000451082 ENST00000454226 ENST00000479336 ENST00000432603

ENST00000373946(uc002xex.3) ENST00000373951 ENST00000441639(uc002xeu.3 uc002xez.3)

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		8/119 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L1 (see all 119):
		hsa-miR-411* hsa-miR-642a hsa-miR-300 hsa-miR-15a hsa-miR-128 hsa-miR-485-3p hsa-miR-605 hsa-miR-632

		SwitchGear 3'UTR luciferase reporter plasmid: EPB41L1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L1

Additional cDNA sequence:

AB002336.1 AK096848.1 AK126875.1 AK299817.1 AY049789.1 BC013885.2 BC040259.1 BC113858.1

BC113899.1 BC131796.1 BX537978.1 CR936825.1

24/25 DOTS entries (see all 25):

DT.217315 DT.95171682 DT.100042028 DT.91916726 DT.100817343 DT.92465560 DT.75180435 DT.92465536

DT.97787891 DT.120821390 DT.95184769 DT.100696359 DT.102844191 DT.120821365 DT.92010395 DT.120821280

DT.120821283 DT.40132629 DT.75148970 DT.91666088 DT.120821417 DT.92033793 DT.95121764 DT.95171681

24/303 AceView cDNA sequences (see all 303):

BF591993 Z44624 CN481715 Z42741 AW902671 AW771041 AW029538 BG054739

AK096848 BU607990 AA325773 BQ446189 BF969908 BQ003264 AI336452 BE764255

BM693944 AI693197 BC040259 BM828294 AA298613 NM_177996 BG118443 NM_012156

GeneLoc Exon Structure

5/30 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L1 (see all 30) About this scheme

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

ExUns:	15b	^	16a	·	16b	·	16c	·	16d	^	17	^	18a	·	18b	^	19a	·	19b	·	19c	·	19d	^	20a	·	20b	^	21a	·	21b	^	22	^	23	^	24	^	25	^	26a	·	26b	·	26c	·	26d	^	27	^	28a	·
SP1:																																																	-		-
SP2:																																																	-		-
SP3:
SP4:
SP5:

ExUns:	28b	^	29	^	30a	·	30b	^	31	^	32	^	33	^	34a	·	34b	^	35a	·	35b	^	36	^	37
SP1:	-		-
SP2:	-		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for EPB41L1

(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

EPB41L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCCCCCACC

About this image

EPB41L1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See EPB41L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EPB41L1

SOURCE GeneReport for Unigene cluster: Hs.743243

UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0

Tissue specificity: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle

SABiosciences Custom PCR Arrays for EPB41L1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L1

(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 EPB41L1 gene from 4/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EPB41L1¹	erythrocyte membrane protein band 4.1-like 1	78.92(n) 82.02(a)		419117 XM_417304.3 XP_417304.3
lizard (Anolis carolinensis)	Reptilia	EPB41L1⁶	--	81(a)	1 ↔ 1	GL343365.1(121626-181229)
zebrafish (Danio rerio)	Actinopterygii	CA469697.1²	--	76.81(n)		276716 CA469697.1
fruit fly (Drosophila melanogaster)	Insecta	cora³	cytoskeleton organization and biogenesis cytoskeletal more	57(a) (best of 2)		56C4 --

ENSEMBL Gene Tree for EPB41L1 (if available)
TreeFam Gene Tree for EPB41L1 (if available)

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

Paralogs for EPB41L1 gene

EPB41² EPB41L5² FRMD3² EPB41L4B² FARP1² FRMD5² MYLIP² EPB41L3²

FRMD7² EPB41L4A² FARP2² EPB41L2²

17 SIMAP similar genes for EPB41L1 using alignment to 12 protein entries: E41L1_HUMAN (see all proteins):

EPB41L2 EPB41 DKFZp564J1082 FRMD3 FRMD5 EPB41L3

PTPN4 EPB41L4A FARP2 PTPN3 EPB41L5 EZR

FARP1 RDX EZR-ROS1 PTPN14 PTPN21

EPB41L1 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)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2746098^1,2	C,F,	--	31455087(+)	`GATTAA/CAGGCA`	1	--	us2k¹		4		NA WA CSA	7
rs74812751^1,2		--	31455723(+)	`TAAAAT/ATAAAT`	1	--	us2k¹		2		CSA WA	119
rs28713434^1,2		--	31456638(+)	`AAAAAA/GAAAAA`	4	--	us2k¹ trp³		0	--	--	--	--
rs2179668^1,2	H	--	31456689(+)	`gatccT/Gagctc`	4	--	us2k¹		4		NS EA	418
rs11700041^1,2	C,F,H,	--	31457015(+)	`CAGCTG/ACTCAC`	4	--	us2k¹		2		NA	128
rs6087759^1,2	H	--	31457649(+)	`GCCACC/TTGCGA`	4	--	int¹ us2k¹		4		NS EA	418
rs113285516^1,2		--	31457747(+)	`GGTCCT/CGGCTG`	4	--	int¹ us2k¹		2		CSA WA	119
rs111909996^1,2		--	31457758(+)	`GAGGTG/AGACGA`	4	--	us2k¹ int¹		1		CSA	1
rs79012926^1,2		--	31459026(+)	`GGAAGG/CGGTGG`	4	--	int¹		1		CSA	1
rs8117803^1,2	C,F,A,H,	--	31459176(+)	`GAACTG/AGGCTG`	4	--	int¹		8		EA NS NA WA CSA	426

HapMap Linkage Disequilibrium report for EPB41L1 (34679426 - 34820721 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for EPB41L1
1 CNV: 35917
Human Gene Mutation Database (HGMD): EPB41L1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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EPB41L1 for disorders About GeneDecksing

OMIM gene information: 602879 OMIM disorders: --

UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0

Defects in EPB41L1 are the cause of mental retardation autosomal dominant type 11 (MRD11) [MIM:614257]. Mental

retardation is characterized by significantly below average general intellectual functioning associated with

impairments in adaptative behavior and manifested during the developmental period

6 diseases for EPB41L1: About MalaCards

neuronitis anorexia nervosa intellectual disability breast carcinoma

schizophrenia carcinoma

Human Genome Epidemiology (HuGE) Navigator: EPB41L1 (2 documents)

Export disorders for EPB41L1 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)
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PubMed articles for EPB41L1 gene, integrated from 9 sources (see all 38):
(articles sorted by number of sources associating them with EPB41L1)

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

Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
PIKE: a nuclear GTPase that enhances PI3kinase activity and is regulated by protein 4.1N. (PubMed id 11136977)^{1, 2} Ye K.... Snyder S.H. (2000)
Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PubMed id 9828140)^{1, 3} Peters L.L....Conboy J.G. (1998)
Radiation hybrid mapping of EPB41L1, a novel protein 4.1 homologue, to human chromosome 20q11.2-q12. (PubMed id 9570967)^{1, 3} Kim A.C....Chishti A.H. (1998)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
D2 and D3 dopamine receptor cell surface localization mediated by interaction with protein 4.1N. (PubMed id 12181426)^{1, 9} Binda A.V....Levenson R. (2002)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2036	HGNC: 3378	AceView: EPB41L1	Ensembl:ENSG00000088367	euGenes: HUgn2036
ECgene: EPB41L1	Kegg: 2036	H-InvDB: EPB41L1

(According to HUGE)
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HUGE: KIAA0338

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for EPB41L1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for EPB41L1 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 EPB41L1 gene:
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GeneCards and IP:
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EPB41L1 Gene

erythrocyte membrane protein band 4.1-like 1

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EPB41L1 Gene

erythrocyte membrane protein band 4.1-like 1

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