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Wikipedia

RBM8A

May 08, 2024

RNA-binding protein 8A is a protein that in humans is encoded by the RBM8A gene.[5][6]

RBM8A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRBM8A, BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1, RNA binding motif protein 8A
External IDsOMIM: 605313 MGI: 1913129 HomoloGene: 3744 GeneCards: RBM8A
Orthologs
SpeciesHumanMouse
Entrez

9939

60365

Ensembl

ENSG00000265241

ENSMUSG00000038374

UniProt

Q9Y5S9

Q9CWZ3

RefSeq (mRNA)

NM_005105

NM_001102407
NM_025875

RefSeq (protein)

NP_005096

NP_001095877
NP_080151

Location (UCSC)Chr 1: 145.92 – 145.93 MbChr 3: 96.54 – 96.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. Two alternative start codons result in two forms of the protein, and this gene also uses multiple polyadenylation sites.[7]

Interactions edit

RBM8A has been shown to interact with IPO13,[8] MAGOH[9][10] and UPF3A.[11]

Related gene problems edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000265241 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038374 – 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. ^ Conklin DC, Rixon MW, Kuestner RE, Maurer MF, Whitmore TE, Millar RP (October 2000). "Cloning and gene expression of a novel human ribonucleoprotein". Biochim Biophys Acta. 1492 (2–3): 465–9. doi:10.1016/s0167-4781(00)00090-7. PMID 11004516.
  6. ^ Salicioni AM, Xi M, Vanderveer LA, Balsara B, Testa JR, Dunbrack RL Jr, Godwin AK (October 2000). "Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor". Genomics. 69 (1): 54–62. doi:10.1006/geno.2000.6315. PMID 11013075.
  7. ^ "Entrez Gene: RBM8A RNA binding motif protein 8A".
  8. ^ Mingot, J M; Kostka S; Kraft R; Hartmann E; Görlich D (July 2001). "Importin 13: a novel mediator of nuclear import and export". EMBO J. 20 (14). England: 3685–94. doi:10.1093/emboj/20.14.3685. ISSN 0261-4189. PMC 125545. PMID 11447110.
  9. ^ Zhao, X F; Nowak N J; Shows T B; Aplan P D (January 2000). "MAGOH interacts with a novel RNA-binding protein". Genomics. 63 (1). UNITED STATES: 145–8. doi:10.1006/geno.1999.6064. ISSN 0888-7543. PMID 10662555.
  10. ^ Kataoka, N; Diem M D; Kim V N; Yong J; Dreyfuss G (November 2001). "Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon–exon junction complex". EMBO J. 20 (22). England: 6424–33. doi:10.1093/emboj/20.22.6424. ISSN 0261-4189. PMC 125744. PMID 11707413.
  11. ^ Kim, V N; Kataoka N; Dreyfuss G (September 2001). "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex". Science. 293 (5536). United States: 1832–6. Bibcode:2001Sci...293.1832K. doi:10.1126/science.1062829. ISSN 0036-8075. PMID 11546873. S2CID 12018200.
  12. ^ Klopocki E, Schulze H, Strauss G, et al. (February 2007). "Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome". Am. J. Hum. Genet. 80 (2): 232–40. doi:10.1086/510919. PMC 1785342. PMID 17236129.

Further reading edit

  • Wilson KF, Fortes P, Singh US, et al. (1999). "The nuclear cap-binding complex is a novel target of growth factor receptor-coupled signal transduction". J. Biol. Chem. 274 (7): 4166–73. doi:10.1074/jbc.274.7.4166. PMID 9933612.
  • Zhao XF, Nowak NJ, Shows TB, Aplan PD (2000). "MAGOH interacts with a novel RNA-binding protein". Genomics. 63 (1): 145–8. doi:10.1006/geno.1999.6064. PMID 10662555.
  • Kataoka N, Yong J, Kim VN, et al. (2000). "Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm". Mol. Cell. 6 (3): 673–82. doi:10.1016/S1097-2765(00)00065-4. PMID 11030346.
  • Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
  • Le Hir H, Izaurralde E, Maquat LE, Moore MJ (2001). "The spliceosome deposits multiple proteins 20–24 nucleotides upstream of mRNA exon–exon junctions". EMBO J. 19 (24): 6860–9. doi:10.1093/emboj/19.24.6860. PMC 305905. PMID 11118221.
  • Mingot JM, Kostka S, Kraft R, et al. (2001). "Importin 13: a novel mediator of nuclear import and export". EMBO J. 20 (14): 3685–94. doi:10.1093/emboj/20.14.3685. PMC 125545. PMID 11447110.
  • Kim VN, Kataoka N, Dreyfuss G (2001). "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex". Science. 293 (5536): 1832–6. Bibcode:2001Sci...293.1832K. doi:10.1126/science.1062829. PMID 11546873. S2CID 12018200.
  • Lykke-Andersen J, Shu MD, Steitz JA (2001). "Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1". Science. 293 (5536): 1836–9. Bibcode:2001Sci...293.1836L. doi:10.1126/science.1062786. PMID 11546874. S2CID 389385.
  • Hachet O, Ephrussi A (2002). "Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport". Curr. Biol. 11 (21): 1666–74. doi:10.1016/S0960-9822(01)00508-5. PMID 11696323. S2CID 2373806.
  • Faurholm B, Millar RP, Katz AA (2002). "The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci". Genomics. 78 (1–2): 15–8. doi:10.1006/geno.2001.6650. PMID 11707068.
  • Kataoka N, Diem MD, Kim VN, et al. (2002). "Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon–exon junction complex". EMBO J. 20 (22): 6424–33. doi:10.1093/emboj/20.22.6424. PMC 125744. PMID 11707413.
  • Jurica MS, Licklider LJ, Gygi SR, et al. (2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
  • Okubo K, Mitani H, Naruse K, et al. (2002). "Conserved physical linkage of GnRH-R and RBM8 in the medaka and human genomes". Biochem. Biophys. Res. Commun. 293 (1): 327–31. doi:10.1016/S0006-291X(02)00161-4. PMID 12054603.
  • Lejeune F, Ishigaki Y, Li X, Maquat LE (2002). "The exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: dynamics of mRNP remodeling". EMBO J. 21 (13): 3536–45. doi:10.1093/emboj/cdf345. PMC 126094. PMID 12093754.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gehring NH, Neu-Yilik G, Schell T, et al. (2003). "Y14 and hUpf3b form an NMD-activating complex". Mol. Cell. 11 (4): 939–49. doi:10.1016/S1097-2765(03)00142-4. PMID 12718880.
  • Fribourg S, Gatfield D, Izaurralde E, Conti E (2003). "A novel mode of RBD-protein recognition in the Y14-Mago complex". Nat. Struct. Biol. 10 (6): 433–9. doi:10.1038/nsb926. PMID 12730685. S2CID 40116577.
  • Lau CK, Diem MD, Dreyfuss G, Van Duyne GD (2004). "Structure of the Y14-Magoh core of the exon junction complex". Curr. Biol. 13 (11): 933–41. doi:10.1016/S0960-9822(03)00328-2. PMID 12781131. S2CID 14752714.
 

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

May 08, 2024
rbm8a, binding, protein, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1p27, 2hyi, 2j0q, 2j0s, 2xb2, 3ex7identifiersaliases, c1delq21, del1q21, mds014, rbm8, rbm8b, znrp, zrnp1, binding, motif, protein, 8a. RNA binding protein 8A is a protein that in humans is encoded by the RBM8A gene 5 6 RBM8AAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1P27 2HYI 2J0Q 2J0S 2XB2 3EX7IdentifiersAliasesRBM8A BOV 1A BOV 1B BOV 1C C1DELq21 1 DEL1q21 1 MDS014 RBM8 RBM8B TAR Y14 ZNRP ZRNP1 RNA binding motif protein 8AExternal IDsOMIM 605313 MGI 1913129 HomoloGene 3744 GeneCards RBM8AGene location Human Chr Chromosome 1 human 1 Band1q21 1Start145 921 556 bp 1 End145 927 678 bp 1 Gene location Mouse Chr Chromosome 3 mouse 2 Band3 3 F2 1Start96 537 249 bp 2 End96 541 107 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceAchilles tendongastrocnemius muscleislet of Langerhansskin of abdomenmonocytelymph nodeappendixminor salivary glandsgallbladderTop expressed ininterventricular septumyolk sacmorulalipganglionic eminenceabdominal wallprimitive streakvisual cortexthymussuperior frontal gyrusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding nucleic acid binding RNA binding mRNA bindingCellular componentcytosol catalytic step 2 spliceosome exon exon junction complex neuronal cell body dendrite spliceosomal complex nucleus cytoplasm nucleoplasm nuclear speck U2 type catalytic step 1 spliceosomeBiological processmRNA splicing via spliceosome termination of RNA polymerase II transcription mRNA transport RNA processing mRNA processing regulation of alternative mRNA splicing via spliceosome mRNA export from nucleus mRNA 3 end processing regulation of translation RNA export from nucleus nuclear transcribed mRNA catabolic process nonsense mediated decay RNA splicing transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez993960365EnsemblENSG00000265241ENSMUSG00000038374UniProtQ9Y5S9Q9CWZ3RefSeq mRNA NM 005105NM 001102407NM 025875RefSeq protein NP 005096NP 001095877NP 080151Location UCSC Chr 1 145 92 145 93 MbChr 3 96 54 96 54 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse This gene encodes a protein with a conserved RNA binding motif The protein is found predominantly in the nucleus although it is also present in the cytoplasm It is preferentially associated with mRNAs produced by splicing including both nuclear mRNAs and newly exported cytoplasmic mRNAs It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present thus coupling pre and post mRNA splicing events Previously it was thought that two genes encode this protein RBM8A and RBM8B it is now thought that the RBM8B locus is a pseudogene Two alternative start codons result in two forms of the protein and this gene also uses multiple polyadenylation sites 7 Contents 1 Interactions 2 Related gene problems 3 References 4 Further readingInteractions editRBM8A has been shown to interact with IPO13 8 MAGOH 9 10 and UPF3A 11 Related gene problems editTAR syndrome 12 1q21 1 deletion syndrome 1q21 1 duplication syndromeReferences edit a b c GRCh38 Ensembl release 89 ENSG00000265241 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000038374 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Conklin DC Rixon MW Kuestner RE Maurer MF Whitmore TE Millar RP October 2000 Cloning and gene expression of a novel human ribonucleoprotein Biochim Biophys Acta 1492 2 3 465 9 doi 10 1016 s0167 4781 00 00090 7 PMID 11004516 Salicioni AM Xi M Vanderveer LA Balsara B Testa JR Dunbrack RL Jr Godwin AK October 2000 Identification and structural analysis of human RBM8A and RBM8B two highly conserved RNA binding motif proteins that interact with OVCA1 a candidate tumor suppressor Genomics 69 1 54 62 doi 10 1006 geno 2000 6315 PMID 11013075 Entrez Gene RBM8A RNA binding motif protein 8A Mingot J M Kostka S Kraft R Hartmann E Gorlich D July 2001 Importin 13 a novel mediator of nuclear import and export EMBO J 20 14 England 3685 94 doi 10 1093 emboj 20 14 3685 ISSN 0261 4189 PMC 125545 PMID 11447110 Zhao X F Nowak N J Shows T B Aplan P D January 2000 MAGOH interacts with a novel RNA binding protein Genomics 63 1 UNITED STATES 145 8 doi 10 1006 geno 1999 6064 ISSN 0888 7543 PMID 10662555 Kataoka N Diem M D Kim V N Yong J Dreyfuss G November 2001 Magoh a human homolog of Drosophila mago nashi protein is a component of the splicing dependent exon exon junction complex EMBO J 20 22 England 6424 33 doi 10 1093 emboj 20 22 6424 ISSN 0261 4189 PMC 125744 PMID 11707413 Kim V N Kataoka N Dreyfuss G September 2001 Role of the nonsense mediated decay factor hUpf3 in the splicing dependent exon exon junction complex Science 293 5536 United States 1832 6 Bibcode 2001Sci 293 1832K doi 10 1126 science 1062829 ISSN 0036 8075 PMID 11546873 S2CID 12018200 Klopocki E Schulze H Strauss G et al February 2007 Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia Absent Radius Syndrome Am J Hum Genet 80 2 232 40 doi 10 1086 510919 PMC 1785342 PMID 17236129 Further reading editWilson KF Fortes P Singh US et al 1999 The nuclear cap binding complex is a novel target of growth factor receptor coupled signal transduction J Biol Chem 274 7 4166 73 doi 10 1074 jbc 274 7 4166 PMID 9933612 Zhao XF Nowak NJ Shows TB Aplan PD 2000 MAGOH interacts with a novel RNA binding protein Genomics 63 1 145 8 doi 10 1006 geno 1999 6064 PMID 10662555 Kataoka N Yong J Kim VN et al 2000 Pre mRNA splicing imprints mRNA in the nucleus with a novel RNA binding protein that persists in the cytoplasm Mol Cell 6 3 673 82 doi 10 1016 S1097 2765 00 00065 4 PMID 11030346 Zhang QH Ye M Wu XY et al 2001 Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34 Hematopoietic Stem Progenitor Cells Genome Res 10 10 1546 60 doi 10 1101 gr 140200 PMC 310934 PMID 11042152 Le Hir H Izaurralde E Maquat LE Moore MJ 2001 The spliceosome deposits multiple proteins 20 24 nucleotides upstream of mRNA exon exon junctions EMBO J 19 24 6860 9 doi 10 1093 emboj 19 24 6860 PMC 305905 PMID 11118221 Mingot JM Kostka S Kraft R et al 2001 Importin 13 a novel mediator of nuclear import and export EMBO J 20 14 3685 94 doi 10 1093 emboj 20 14 3685 PMC 125545 PMID 11447110 Kim VN Kataoka N Dreyfuss G 2001 Role of the nonsense mediated decay factor hUpf3 in the splicing dependent exon exon junction complex Science 293 5536 1832 6 Bibcode 2001Sci 293 1832K doi 10 1126 science 1062829 PMID 11546873 S2CID 12018200 Lykke Andersen J Shu MD Steitz JA 2001 Communication of the position of exon exon junctions to the mRNA surveillance machinery by the protein RNPS1 Science 293 5536 1836 9 Bibcode 2001Sci 293 1836L doi 10 1126 science 1062786 PMID 11546874 S2CID 389385 Hachet O Ephrussi A 2002 Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport Curr Biol 11 21 1666 74 doi 10 1016 S0960 9822 01 00508 5 PMID 11696323 S2CID 2373806 Faurholm B Millar RP Katz AA 2002 The genes encoding the type II gonadotropin releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci Genomics 78 1 2 15 8 doi 10 1006 geno 2001 6650 PMID 11707068 Kataoka N Diem MD Kim VN et al 2002 Magoh a human homolog of Drosophila mago nashi protein is a component of the splicing dependent exon exon junction complex EMBO J 20 22 6424 33 doi 10 1093 emboj 20 22 6424 PMC 125744 PMID 11707413 Jurica MS Licklider LJ Gygi SR et al 2002 Purification and characterization of native spliceosomes suitable for three dimensional structural analysis RNA 8 4 426 39 doi 10 1017 S1355838202021088 PMC 1370266 PMID 11991638 Okubo K Mitani H Naruse K et al 2002 Conserved physical linkage of GnRH R and RBM8 in the medaka and human genomes Biochem Biophys Res Commun 293 1 327 31 doi 10 1016 S0006 291X 02 00161 4 PMID 12054603 Lejeune F Ishigaki Y Li X Maquat LE 2002 The exon junction complex is detected on CBP80 bound but not eIF4E bound mRNA in mammalian cells dynamics of mRNP remodeling EMBO J 21 13 3536 45 doi 10 1093 emboj cdf345 PMC 126094 PMID 12093754 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Gehring NH Neu Yilik G Schell T et al 2003 Y14 and hUpf3b form an NMD activating complex Mol Cell 11 4 939 49 doi 10 1016 S1097 2765 03 00142 4 PMID 12718880 Fribourg S Gatfield D Izaurralde E Conti E 2003 A novel mode of RBD protein recognition in the Y14 Mago complex Nat Struct Biol 10 6 433 9 doi 10 1038 nsb926 PMID 12730685 S2CID 40116577 Lau CK Diem MD Dreyfuss G Van Duyne GD 2004 Structure of the Y14 Magoh core of the exon junction complex Curr Biol 13 11 933 41 doi 10 1016 S0960 9822 03 00328 2 PMID 12781131 S2CID 14752714 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title RBM8A amp oldid 1196450072, wikipedia, wiki, book, books, library,

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