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RBMX

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RBMX
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRBMX, HNRNPG, HNRPG, RBMXP1, RBMXRT, RNMX, hnRNP-G, MRXS11, RNA binding motif protein, X-linked, RNA binding motif protein X-linked
External IDsOMIM: 300199; MGI: 1343044; HomoloGene: 20494; GeneCards: RBMX; OMA:RBMX - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001164803
NM_002139

NM_001166623
NM_011252

RefSeq (protein)

NP_001158275
NP_002130

NP_001160095
NP_035382

Location (UCSC)Chr X: 136.85 – 136.88 MbChr X: 56.43 – 56.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heterogeneous nuclear ribonucleoprotein G is a protein that in humans is encoded by the RBMX gene.[5][6][7]

Function

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified but their biological nature has not been determined.[7]

Interactions

RBMX has been shown to interact with SFRS10[8] and CDC5L.[9]

Model organisms

Model organisms have been used in the study of RBMX function. A conditional knockout mouse line called Rbmxtm2b(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[10] Male and female animals underwent a standardized phenotypic screen[11] to determine the effects of deletion.[12][13][14][15] Additional screens performed: - In-depth immunological phenotyping[16]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147274Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031134Ensembl, 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. ^ Delbridge ML, Lingenfelter PA, Disteche CM, Graves JA (Jul 1999). "The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome". Nature Genetics. 22 (3): 223–4. doi:10.1038/10279. PMID 10391206.
  6. ^ Mazeyrat S, Saut N, Mattei MG, Mitchell MJ (Jul 1999). "RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical gene". Nature Genetics. 22 (3): 224–6. doi:10.1038/10282. PMID 10391207.
  7. ^ a b "Entrez Gene: RBMX RNA binding motif protein, X-linked".
  8. ^ Hofmann Y, Wirth B (Aug 2002). "hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1". Human Molecular Genetics. 11 (17): 2037–49. doi:10.1093/hmg/11.17.2037. PMID 12165565.
  9. ^ Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI (Dec 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". The EMBO Journal. 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. PMC 305846. PMID 11101529.
  10. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. ^ a b "International Mouse Phenotyping Consortium".
  12. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  16. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading