EPB41L3

Protein-coding gene in the species Homo sapiens

EPB41L3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2HE7, 3BIN

Identifiers
AliasesEPB41L3, 4.1B, DAL-1, DAL1, erythrocyte membrane protein band 4.1 like 3
External IDsOMIM: 605331; MGI: 103008; HomoloGene: 49308; GeneCards: EPB41L3; OMA:EPB41L3 - orthologs
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for EPB41L3
Genomic location for EPB41L3
Band18p11.31Start5,392,381 bp[1]
End5,630,700 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for EPB41L3
Genomic location for EPB41L3
Band17 E1.3|17 40.15 cMStart69,075,683 bp[2]
End69,289,989 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pons

  • lateral nuclear group of thalamus

  • Brodmann area 10

  • C1 segment

  • sperm

  • frontal pole

  • middle frontal gyrus

  • spinal ganglia

  • subthalamic nucleus

  • paraflocculus of cerebellum
Top expressed in
  • facial motor nucleus

  • anterior horn of spinal cord

  • epithelium of small intestine

  • central gray substance of midbrain

  • pontine nuclei

  • deep cerebellar nuclei

  • medial vestibular nucleus

  • lateral geniculate nucleus

  • inferior colliculus

  • superior colliculus
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • structural molecule activity
  • cytoskeletal protein binding
  • structural constituent of cytoskeleton
  • protein binding
  • actin binding
Cellular component
  • cytoplasm
  • membrane
  • cell junction
  • juxtaparanode region of axon
  • paranode region of axon
  • axolemma
  • cell-cell junction
  • cytosol
  • cytoskeleton
  • plasma membrane
  • postsynaptic density
Biological process
  • apoptotic process
  • cortical cytoskeleton organization
  • cytoskeleton organization
  • regulation of cell growth
  • cortical actin cytoskeleton organization
  • paranodal junction assembly
  • myelin maintenance
  • protein localization to juxtaparanode region of axon
  • neuron projection morphogenesis
  • protein localization to plasma membrane
  • regulation of cell shape
  • protein localization to paranode region of axon
  • actomyosin structure organization
  • biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

23136

13823

Ensembl

ENSG00000082397

ENSMUSG00000024044

UniProt

Q9Y2J2

Q9WV92

RefSeq (mRNA)

NM_001281533
NM_001281534
NM_001281535
NM_012307
NM_001330557

NM_013813
NM_001355732
NM_001355733
NM_001355734
NM_001355735

NM_001355736

RefSeq (protein)

NP_001268462
NP_001268463
NP_001268464
NP_001317486
NP_036439

NP_038841
NP_001342661
NP_001342662
NP_001342663
NP_001342664

NP_001342665

Location (UCSC)Chr 18: 5.39 – 5.63 MbChr 17: 69.08 – 69.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Band 4.1-like protein 3 is a protein that in humans is encoded by the EPB41L3 gene.[5][6][7]

Interactions

EPB41L3 has been shown to interact with YWHAB,[8][9] YWHAH,[9] YWHAG[8][9] and Cell adhesion molecule 1.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000082397 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024044 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Peters LL, Weier HU, Walensky LD, Snyder SH, Parra M, Mohandas N, Conboy JG (Dec 1998). "Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human". Genomics. 54 (2): 348–50. doi:10.1006/geno.1998.5537. PMID 9828140.
  6. ^ Tran YK, Bögler O, Gorse KM, Wieland I, Green MR, Newsham IF (Jan 1999). "A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer". Cancer Research. 59 (1): 35–43. PMID 9892180.
  7. ^ "Entrez Gene: EPB41L3 erythrocyte membrane protein band 4.1-like 3".
  8. ^ a b Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  9. ^ a b c Yu T, Robb VA, Singh V, Gutmann DH, Newsham IF (Aug 2002). "The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins". The Biochemical Journal. 365 (Pt 3): 783–9. doi:10.1042/BJ20020060. PMC 1222735. PMID 11996670.
  10. ^ Yageta M, Kuramochi M, Masuda M, Fukami T, Fukuhara H, Maruyama T, Shibuya M, Murakami Y (Sep 2002). "Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer". Cancer Research. 62 (18): 5129–33. PMID 12234973.

Further reading

  • Calinisan V, Gravem D, Chen RP, Brittin S, Mohandas N, Lecomte MC, Gascard P (2006). "New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium". Frontiers in Bioscience. 11: 1646–66. doi:10.2741/1911. PMID 16368544. S2CID 26325962.
  • Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (Sep 1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
  • Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC (Aug 1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nature Genetics. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID 8401585. S2CID 12612300.
  • Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1999). "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". DNA Research. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
  • Gutmann DH, Donahoe J, Perry A, Lemke N, Gorse K, Kittiniyom K, Rempel SA, Gutierrez JA, Newsham IF (Jun 2000). "Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas". Human Molecular Genetics. 9 (10): 1495–500. doi:10.1093/hmg/9.10.1495. PMID 10888600.
  • Yu T, Robb VA, Singh V, Gutmann DH, Newsham IF (Aug 2002). "The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins". The Biochemical Journal. 365 (Pt 3): 783–9. doi:10.1042/BJ20020060. PMC 1222735. PMID 11996670.
  • Charboneau AL, Singh V, Yu T, Newsham IF (Jul 2002). "Suppression of growth and increased cellular attachment after expression of DAL-1 in MCF-7 breast cancer cells". International Journal of Cancer. 100 (2): 181–8. doi:10.1002/ijc.10470. PMID 12115567. S2CID 11529986.
  • Yageta M, Kuramochi M, Masuda M, Fukami T, Fukuhara H, Maruyama T, Shibuya M, Murakami Y (Sep 2002). "Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer". Cancer Research. 62 (18): 5129–33. PMID 12234973.
  • Nakayama M, Kikuno R, Ohara O (Nov 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
  • Heinrich B, Hartmann C, Stemmer-Rachamimov AO, Louis DN, MacCollin M (Feb 2003). "Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms". International Journal of Cancer. 103 (4): 483–8. doi:10.1002/ijc.10840. PMID 12478663. S2CID 39741503.
  • Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA (Jan 2003). "Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres". The European Journal of Neuroscience. 17 (2): 411–6. doi:10.1046/j.1460-9568.2003.02441.x. PMID 12542678. S2CID 21570541.
  • Robb VA, Li W, Gutmann DH (Apr 2004). "Disruption of 14-3-3 binding does not impair Protein 4.1B growth suppression". Oncogene. 23 (20): 3589–96. doi:10.1038/sj.onc.1207445. PMID 15116094. S2CID 25066198.
  • Kittiniyom K, Mastronardi M, Roemer M, Wells WA, Greenberg ER, Titus-Ernstoff L, Newsham IF (Jul 2004). "Allele-specific loss of heterozygosity at the DAL-1/4.1B (EPB41L3) tumor-suppressor gene locus in the absence of mutation". Genes, Chromosomes & Cancer. 40 (3): 190–203. doi:10.1002/gcc.20034. PMID 15138999. S2CID 39309236.
  • Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett JR, Langeberg LK, Scott JD, Pawson T (Aug 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
  • Singh V, Miranda TB, Jiang W, Frankel A, Roemer ME, Robb VA, Gutmann DH, Herschman HR, Clarke S, Newsham IF (Oct 2004). "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". Oncogene. 23 (47): 7761–71. doi:10.1038/sj.onc.1208057. PMID 15334060.
  • Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
  • Overview of all the structural information available in the PDB for UniProt: Q9Y2J2 (Band 4.1-like protein 3) at the PDBe-KB.
  • v
  • t
  • e
  • 2he7: FERM domain of EPB41L3 (DAL-1)
    2he7: FERM domain of EPB41L3 (DAL-1)


Stub icon

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e