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RBM10 information


RBM10
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRBM10, DXS8237E, GPATC9, GPATCH9, S1-1, TARPS, ZRANB5, RNA binding motif protein 10
External IDsOMIM: 300080; MGI: 2384310; HomoloGene: 31330; GeneCards: RBM10; OMA:RBM10 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001204466
NM_001204467
NM_001204468
NM_005676
NM_152856

RefSeq (protein)
Location (UCSC)Chr X: 47.15 – 47.19 MbChr X: 20.48 – 20.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RNA-binding motif 10 is a protein that is encoded by the RBM10 gene.[5][6][7][8] This gene maps on the X chromosome at Xp11.23 in humans. RBM10 is a regulator of alternative splicing.[9][10][11] Alternative splicing is a process associated with gene expression to produce multiple protein isoforms from a single gene, thereby creating functional diversity and cellular complexity.[12] RBM10 influences the expression of many genes,[9][10][13][14][15] participating in various cellular processes and pathways such as cell proliferation and apoptosis.[10][16] Its mutations are associated with various human diseases[17][18][19][20][21][22] such as TARP syndrome,[22][17] an X-linked congenital disorder in males resulting in pre‐ or postnatal lethality, and various cancers in adults.[18][19]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182872 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031060 – 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. ^ Cite error: The named reference Nagase-1995 was invoked but never defined (see the help page).
  6. ^ Cite error: The named reference Coleman-1996 was invoked but never defined (see the help page).
  7. ^ Cite error: The named reference Thiselton-2002 was invoked but never defined (see the help page).
  8. ^ Cite error: The named reference Inoue-1996 was invoked but never defined (see the help page).
  9. ^ a b Cite error: The named reference Wang-2013 was invoked but never defined (see the help page).
  10. ^ a b c Cite error: The named reference Bechara-2013 was invoked but never defined (see the help page).
  11. ^ Cite error: The named reference Inoue-2014 was invoked but never defined (see the help page).
  12. ^ Cite error: The named reference Yang-2016 was invoked but never defined (see the help page).
  13. ^ Cite error: The named reference Sutherland-2017 was invoked but never defined (see the help page).
  14. ^ Cite error: The named reference Sun-2017 was invoked but never defined (see the help page).
  15. ^ Cite error: The named reference Collins-2017 was invoked but never defined (see the help page).
  16. ^ Cite error: The named reference Loiselle-2017 was invoked but never defined (see the help page).
  17. ^ a b Cite error: The named reference Johnston-2010 was invoked but never defined (see the help page).
  18. ^ a b Cite error: The named reference Imielinski-2012 was invoked but never defined (see the help page).
  19. ^ a b Cite error: The named reference Seiler-2018 was invoked but never defined (see the help page).
  20. ^ Cite error: The named reference Cieply-2015 was invoked but never defined (see the help page).
  21. ^ Cite error: The named reference Coomer-2019 was invoked but never defined (see the help page).
  22. ^ a b Gorlin RJ, Cervenka J, Anderson RC, Sauk JJ, Bevis WD (February 1970). "Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect". American Journal of Diseases of Children. 119 (2): 176–8. doi:10.1001/archpedi.1970.02100050178020. PMID 5410571.

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RNA recognition motif

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II; 186000; HOXD13 Tangier disease; 205400; ABCA1 TARP syndrome; 311900; RBM10 Tarsal-carpal coalition syndrome; 186570; NOG Tay–Sachs disease; 272800;...

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