EPB41L3 Gene

Aliases
for EPB41L3 gene

Previous GC identifers: GC18P005437 GC18M005456

Summaries
for EPB41L3 gene

Genomic Views
for EPB41L3 gene

RefSeq DNA sequence:

NC_000018.9  NC_018929.1  NT_010859.14  

SwitchGear Promoter luciferase reporter plasmid: EPB41L3 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L3

EPB41L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M005382:  view genomic region     (about GC identifiers)

Proteins
for EPB41L3 gene

2 PDB 3D structures from and Proteopedia for EPB41L3:

2HE7 (3D)        3BIN (3D)    

Explore the universe of human proteins at neXtProt for EPB41L3: NX_Q9Y2J2

Post-translational modifications:

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	Novus Biologicals EPB41L3 Proteins Novus Biologicals EPB41L3 Lysate
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	Uscn Proteins for EPB41L3

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

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	ThermoFisher Antibody for EPB41L3

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	Uscn ELISAs and CLIAs for EPB41L3

Protein Domains /
Families
for EPB41L3 gene

ProtoNet protein and cluster: Q9Y2J2

Function
for EPB41L3 gene

miRNA Products:		OriGene 3'-UTR Clone: EPB41L3 Browse MicroRNA Expression Plasmids
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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L3 (see all 20):
		hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p
		SwitchGear 3'UTR luciferase reporter plasmid: EPB41L3 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPB41L3 (see all 4) OriGene shRNA RFP: EPB41L3 OriGene siRNA: EPB41L3
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for EPB41L3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L3 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

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

(inferred from 5 alleles) (MGI details for Epb4.1l3)

Pathways & Interactions
for EPB41L3 gene

	Super-pathway	contained gene-specific pathways
1	Tight junction	Tight junction 1.00

1         Kegg Pathway  (Kegg details for EPB41L3)

Tight junction

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

Drugs & Compounds
for EPB41L3 gene

Transcripts
for EPB41L3 gene

Expression
for EPB41L3 gene

EPB41L3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGAATGTAT

Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13)
	Name			Category
	PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)			Endothelium
	PureStem™ progenitor E68 (Embryonic Progenitor Cell)
	PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)			Intermediate Mesoderm, Kidney
	PureStem™ progenitor T42 (Embryonic Progenitor Cell)
	PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)			Adipose, Bone, Cartilage
	PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)			Lateral Plate Mesoderm, Neural Crest
	PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)			Adipose, Bone, Cartilage
	PureStem™ progenitor E44 (Embryonic Progenitor Cell)
	PureStem™ progenitor E69 (Embryonic Progenitor Cell)
	PureStem™ progenitor F15 (Embryonic Progenitor Cell)
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EPB41L3 Browse OriGene validated miRNA SYBR primer pairs
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

Orthologs
for EPB41L3 gene

Paralogs
for EPB41L3 gene

Paralogs for EPB41L3 gene

EPB41²  EPB41L5²  FRMD3²  EPB41L1²  EPB41L4B²  FARP1²  FRMD5²  MYLIP²  

FRMD7²  EPB41L4A²  FARP2²  EPB41L2²  

15 SIMAP similar genes for EPB41L3 using alignment to 16 protein entries:     E41L3_HUMAN (see all proteins):

DKFZp564J1082    PTPN4    EPB41L2    EPB41L1    FRMD5    EPB41L5

FARP2    EPB41L4B    EPB41L4A    EPB41    PTPN21    RDX

FRMD3    MSN    PTPN14

EPB41L3 for paralogs           About GeneDecksing

Genomic Variants
for EPB41L3 gene

10/47 NCBI SNPs in EPB41L3 are shown (see all 47)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs797474581,2		--	5405833(+)	AAAAAT/AATCTC	1	--	int1		1		NA	2
rs2010714711,2		--	5405834(+)	AAAAA-/ATCTCTT	1	--	int1		0	--	--	--	--
rs343865751,2	C,	--	5408275(+)	TCTTTC/-TTTTT	1	--	int1		1		NA	2
rs1476903241,2	C,	--	5422459(+)	TAACT-/TTTG           TTTAT	1	--	int1		0	--	--	--	--
rs596076861,2	C	--	5422462(+)	CTTTT-/GTTT           ATTTT	1	--	int1		1		NA	2
rs113981331,2	C	--	5437962(+)	CGCTCC/-TTTCC	1	--	int1		2		NA CSA	6
rs80891291,2	C,H,	--	5457162(+)	TACAGC/ACTTTT	1	--	int1		4		NS EA	410
rs352650171,2	C,	--	5466782(+)	GAAAC-/TTTTCC	1	--	int1		2		NA	4
rs38349781,2	C,	--	5467380(+)	CTCTG-/CCCACT	1	--	int1		1		NA	2
rs1407654201,2		--	5469446(+)	CCAGC-/ATGCCTG GCTGTGTGTATGCC	1	--	int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for EPB41L3 (5392383 - 5630699 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for EPB41L3
     4 Indels: 34409 41510 29519 29518

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EPB41L3

DNA2.0 Custom Variant and Variant Library Synthesis for EPB41L3

Disorders / Diseases
for EPB41L3 gene

20/27 diseases for EPB41L3

10/13 Novoseek disease relationships for EPB41L3 gene (see all 13)    About this table

Publications
for EPB41L3 gene

PubMed articles for EPB41L3 gene, integrated from 9 sources (see all 82) (see top 10): (articles sorted by number of sources associating them with EPB41L3)

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

1. A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer. (PubMed id 9892180)^{1, 2, 3, 9} Tran Y.K....Newsham I.F. (1999)
2. Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer. (PubMed id 12234973)^{1, 2, 9} Yageta M.... Murakami Y. (2002)
3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
4. 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)
5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)^{1, 2} Nagase T.... Ohara O. (1999)
6. 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)
7. Downregulation of TSLC1 and DAL-1 expression occurs frequently in breast cancer. (PubMed id 17260099)^{1, 9} Heller G....Zochbauer-Muller S. (2007)
8. Promoter methylation of DAL-1/4.1B predicts poor prognosis in non-small cell lung cancer. (PubMed id 15837747)^{1, 9} Kikuchi S....Murakami Y. (2005)
9. Immunolocalization of protein 4.1B/DAL-1 during neoplastic transformation of mouse and human intestinal epithelium. (PubMed id 15517334)^{1, 9} Ohno N....Ohno S. (2004)
10. Disruption of 14-3-3 binding does not impair Protein 4.1B growth suppression. (PubMed id 15116094)^{1, 9} Robb V.A....Gutmann D.H. (2004)
11. Expression and methylation pattern of TSLC1 cascade genes in lung carcinomas. (PubMed id 16205641)^{1, 9} Heller G....Zochbauer-Muller S. (2006)
12. Membrane localization of the U2 domain of Protein 4.1B is necessary and sufficient for meningioma growth suppression. (PubMed id 15688033)^{1, 9} Robb V.A....Gutmann D.H. (2005)
13. Potential role of EPB41L3 (protein 4.1B/Dal-1) as a target for treatment of advanced prostate cancer. (PubMed id 18554153)^{1, 9} Bernkopf D.B. and Williams E.D. (2008)
14. Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas. (PubMed id 10888600)^{1, 9} Gutmann D.H....Newsham I.F. (2000)
15. Promoter hypermethylation of the potential tumor suppressor DAL-1/4.1B gene in renal clear cell carcinoma. (PubMed id 16152585)^{1, 9} Yamada D....Murakami Y. (2006)
16. Frequent concomitant epigenetic silencing of the stress-responsive tumor suppressor gene CADM1, and its interacting partner DAL-1 in nasal NK/T-cell lymphoma. (PubMed id 19115211)^{1, 9} Fu L....Tao Q. (2009)
17. Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms. (PubMed id 12478663)^{1, 9} Heinrich B....MacCollin M. (2003)
18. SynCAM1 recruits NMDA receptors via protein 4.1B. (PubMed id 19796685)^{1, 9} Hoy J.L....Washbourne P. (2009)
19. A Golgi-associated protein 4.1B variant is required for assimilation of proteins in the membrane. (PubMed id 19299464)^{1, 9} Kang Q....An X. (2009)
20. The tumor suppressor DAL-1/4.1B and protein methylation cooperate in inducing apoptosis in MCF-7 breast cancer cells. (PubMed id 16420693)^{1, 9} Jiang W. and Newsham I.F. (2006)
21. DAL-1/4.1B tumor suppressor interacts with protein arginine N-methyltransferase 3 (PRMT3) and inhibits its ability to methylate substrates in vitro and in vivo. (PubMed id 15334060)^{1, 9} Singh V....Newsham I.F. (2004)
22. Aberrant expression of tumor suppressors CADM1 and 4.1 B in invasive lesions of primary breast cancer. (PubMed id 21526423)¹ Takahashi Y....Murakami Y. (2012)
23. A four-gene methylation marker panel as triage test in high-risk human papillomavirus positive patients. (PubMed id 21796628)¹ Eijsink J.J....Wisman G.B. (2012)
24. Loss of expression of the differentially expressed in adenocarcinoma of the lung (DAL-1) protein is associated with metastasis of non- small cell lung carcinoma cells. (PubMed id 22782504)¹ Zhang Y....Wang H. (2012)
25. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)¹ Tsai Y.C....Cristea I.M. (2012)
26. Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
27. Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)¹ Soler-Lopez M....Aloy P. (2011)
28. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
29. miRNA-223 promotes gastric cancer invasion and metast asis by targeting tumor suppressor EPB41L3. (PubMed id 21628394)¹ Li X....Daiming F. (2011)
30. Structural basis of tumor suppressor in lung cancer 1 (TSLC1) binding to differentially expressed in adenocarcinoma of the lung (DAL -1/4.1B). (PubMed id 21131357)¹ Busam R.D....Hallberg B.M. (2011)
31. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
32. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
33. [Expressions and clinical significances of TSLC1 and 4.1B in non-small cell lung cancer]. (PubMed id 21081044)¹ Wang Z....Chen Z. (2010)
34. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
35. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
36. A human MAP kinase interactome. (PubMed id 20936779)¹ Bandyopadhyay S....Ideker T. (2010)
37. Microcell-mediated chromosome transfer identifies EPB 41L3 as a functional suppressor of epithelial ovarian cancers. (PubMed id 20651987)¹ Dafou D....Gayther S.A. (2010)
38. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
39. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. (PubMed id 19165527)¹ Martins-de-Souza D....Turck C.W. (2009)
40. The tale of two domains: proteomics and genomics analysis of SMYD2, a new histone methyltransferase. (PubMed id 18065756)¹ Abu-Farha M....Figeys D. (2008)
41. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)¹ Wu C....Li S.S. (2007)
42. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)¹ Ewing R.M.... Figeys D. (2007)
43. Functional specialization of beta-arrestin interactions revealed by proteomic analysis. (PubMed id 17620599)¹ Xiao K....Lefkowitz R.J. (2007)
44. Protein 4.1B suppresses prostate cancer progression and metastasis. (PubMed id 17640904)¹ Wong S.Y....Hynes R.O. (2007)
45. New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium. (PubMed id 16368544)¹ Calinisan V....Gascard P. (2006)
46. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)¹ Lim J.... Zoghbi H.Y. (2006)
47. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
48. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)
49. Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas. (PubMed id 16142420)¹ Martinez-Glez V....Rey J.A. (2005)
50. Alterations of protein 4.1 family members in ependymomas: a study of 84 cases. (PubMed id 15731777)¹ Rajaram V....Perry A. (2005)
51. Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. (PubMed id 16213361)¹ Nunes F....MacCollin M. (2005)
52. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
53. Allele-specific loss of heterozygosity at the DAL-1/4.1B (EPB41L3) tumor-suppressor gene locus in the absence of mutation. (PubMed id 15138999)¹ Kittiniyom K....Newsham I.F. (2004)
54. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. (PubMed id 15324660)¹ Jin J....Pawson T. (2004)
55. Phosphoproteomic analysis of the developing mouse brain. (PubMed id 15345747)¹ Ballif B.A.... Gygi S.P. (2004)
56. Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres. (PubMed id 12542678)¹ Denisenko-Nehrbass N....Girault J.A. (2003)
57. Suppression of growth and increased cellular attachment after expression of DAL-1 in MCF-7 breast cancer cells. (PubMed id 12115567)¹ Charboneau A.L....Newsham I.F. (2002)
58. The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins. (PubMed id 11996670)¹ Yu T....Newsham I.F. (2002)
59. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)¹ Nakayama M....Ohara O. (2002)
60. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
61. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)¹ Adams M.D....White O. (1995)
62. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. (PubMed id 8401585)¹ Adams M.D....Venter J.C. (1993)
63. [Expression and significance of membrane skeleton pro tein 4.1 family in non-small cell lung cancer] (PubMed id 19624891)⁹ Zheng X.Y....An X.L. (2009)
64. Hypermethylation of the Dal-1 gene in lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine in rats. (PubMed id 17415786)⁹ Tsujiuchi T....Honoki K. (2007)
65. Expression of the tumor suppressor genes NF2, 4.1B, a nd TSLC1 in canine meningiomas. (PubMed id 19429976)⁹ Dickinson P.J....Gutmann D.H. (2009)
66. Protein 4.1B/differentially expressed in adenocarcinoma of the lung-1 functions as a growth suppressor in meningioma cells by activating Rac1-dependent c-Jun-NH(2)-kinase signaling. (PubMed id 16707455)⁹ Gerber M.A....Gutmann D.H. (2006)
67. The protein 4.1 tumor suppressor, DAL-1, impairs cell motility, but regulates proliferation in a cell-type-specific fashion. (PubMed id 11300722)⁹ Gutmann D.H....Haipek C.A. (2001)
68. Merlin, DAL-1, and progesterone receptor expression in clinicopathologic subsets of meningioma: a correlative immunohistochemical study of 175 cases. (PubMed id 11079777)⁹ Perry A....Gutmann D.H. (2000)
69. Comparison of mRNA and protein levels of four members of the protein 4.1 family: the type II brain 4.1/4.1B/KIAA0987 is the most pre dominant member of the protein 4.1 family in rat brain. (PubMed id 10806359)⁹ Yamakawa H. and Ohara O. (2000)
70. Differential involvement of protein 4.1 family members DAL-1 and NF2 in intracranial and intraspinal ependymomas. (PubMed id 12011257)⁹ Singh P.K....Perry A. (2002)
71. Evolutionarily conserved coupling of transcription and alternative splicing in the EPB41 (protein 4.1R) and EPB41L3 (protein 4.1B) genes. (PubMed id 16242908)⁹ Tan J.S....Conboy J.G. (2005)
72. Anaplastic meningioma versus meningeal hemangiopericytoma: immunohistochemical and genetic markers. (PubMed id 15668900)⁹ Rajaram V....Perry A. (2004)
73. CDK10 is not a target for aberrant DNA methylation in breast cancer. (PubMed id 19846932)⁹ Heller G....Filipits M. (2009)
74. Tumor suppressor CADM1 is involved in epithelial cell structure. (PubMed id 19854157)⁹ Sakurai-Yageta M....Murakami Y. (2009)
75. Aggressive phenotypic and genotypic features in pediatric and NF2-associated meningiomas: a clinicopathologic study of 53 cases. (PubMed id 11589430)⁹ Perry A....Gutmann D.H. (2001)
76. Protein 4.1, a component of the erythrocyte membrane skeleton and its related homologue proteins forming the protein 4.1/FERM superfamily. (PubMed id 17219717)⁹ Diakowski W....Sikorski A.F. (2006)
77. Cardiac muscle cell cytoskeletal protein 4.1: analysis of transcripts and subcellular location--relevance to membrane integrity, microstructure, and possible role in heart failure. (PubMed id 15834631)⁹ Taylor-Harris P.M....Pinder J.C. (2005)
78. Loss of tumor suppressor in lung cancer-1 (TSLC1) expression in meningioma correlates with increased malignancy grade and reduced patient survival. (PubMed id 15535129)⁹ Surace E.I....Gutmann D.H. (2004)

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