RBMX: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Heterogeneous nuclear ribonucleoprotein G''' is a [[protein]] that in humans is encoded by the ''RBMX'' [[gene]].<ref name="pmid10391206">{{cite journal | vauthors = Delbridge ML, Lingenfelter PA, Disteche CM, Graves JA | title = The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome | journal = Nature Genetics | volume = 22 | issue = 3 | pages = 223–4 | date = Jul 1999 | pmid = 10391206 | pmc =  | doi = 10.1038/10279 }}</ref><ref name="pmid10391207">{{cite journal | vauthors = Mazeyrat S, Saut N, Mattei MG, Mitchell MJ | title = RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical gene | journal = Nature Genetics | volume = 22 | issue = 3 | pages = 224–6 | date = Jul 1999 | pmid = 10391207 | pmc = | doi = 10.1038/10282 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RBMX RNA binding motif protein, X-linked| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27316| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = RNA binding motif protein, X-linked
| HGNCid = 9910
| Symbol = RBMX
| AltSymbols =; RBMXP1; HNRPG; RBMXRT; RNMX
| OMIM = 300199
| ECnumber = 
| Homologene = 20494
| MGIid = 1343044
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}} {{GNF_GO|id=GO:0030529 |text = ribonucleoprotein complex}} {{GNF_GO|id=GO:0030530 |text = heterogeneous nuclear ribonucleoprotein complex}}
| Process = {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0008150 |text = biological_process}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 27316
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_002130
    | Hs_RefseqmRNA = NM_002139
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 19655
    | Mm_Ensembl = ENSMUSG00000031134
    | Mm_RefseqmRNA = NM_011252
    | Mm_RefseqProtein = NP_035382
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 53733142
    | Mm_GenLoc_end = 53739806
    | Mm_Uniprot = 
  }}
}}
'''RNA binding motif protein, X-linked''', also known as '''RBMX''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RBMX RNA binding motif protein, X-linked| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27316| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: RBMX RNA binding motif protein, X-linked| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27316| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
RBMX has been shown to [[Protein-protein interaction|interact]] with [[TRA2B|SFRS10]]<ref name=pmid12165565>{{cite journal | vauthors = Hofmann Y, Wirth B | title = hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1 | journal = Human Molecular Genetics | volume = 11 | issue = 17 | pages = 2037–49 | date = Aug 2002 | pmid = 12165565 | doi = 10.1093/hmg/11.17.2037 }}</ref> and [[CDC5L]].<ref name=pmid11101529>{{cite journal | vauthors = Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI | title = Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry | journal = The EMBO Journal | volume = 19 | issue = 23 | pages = 6569–81 | date = Dec 2000 | pmid = 11101529 | pmc = 305846 | doi = 10.1093/emboj/19.23.6569 }}</ref>
 
== Model organisms ==
 
[[Model organism]]s have been used in the study of RBMX function. A conditional [[knockout mouse]] line called ''Rbmx<sup>tm2b(KOMP)Wtsi</sup>'' was generated at the [[Wellcome Trust Sanger Institute]].<ref name="mgp_reference">{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}</ref> Male and female animals underwent a standardized [[phenotypic screen]]<ref name="IMPCsearch_ref">{{cite web |url=http://www.mousephenotype.org/data/search?q=Rbmx#fq=*:*&facet=gene |title=International Mouse Phenotyping Consortium}}</ref> to determine the effects of deletion.<ref name="pmid21677750">{{cite journal | vauthors = 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 | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref><ref name="pmid23870131">{{cite journal | vauthors = 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 | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 }}</ref> Additional screens performed:  - In-depth immunological phenotyping<ref name="iii_ref">{{cite web |url= http://www.immunophenotyping.org/data/search?keys=Rbmx&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}</ref>
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: left;" |
|+ ''Rbmx'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| colspan=2; style="text-align: center;" | All data available at.<ref name="IMPCsearch_ref"/><ref name="iii_ref" />
|-
| Peripheral blood leukocytes 6 Weeks || bgcolor="#488ED3"|Normal
 
|-
| Insulin || bgcolor="#488ED3"|Normal
 
|-
| ''[[Haematology]]'' 6 Weeks || bgcolor="#488ED3"|Normal
 
|-
| Homozygous viability at P14 || bgcolor="#488ED3"|Normal
 
|-
| Homozygous Fertility || bgcolor="#488ED3"|Normal
 
|-
| Body weight || bgcolor="#C40000"|Abnormal
 
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
 
|-
| Grip strength || bgcolor="#488ED3"|Normal
 
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
 
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
 
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
 
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
 
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
 
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
 
|-
| Eye morphology || bgcolor="#488ED3"|Normal
 
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
 
|-
| ''[[Haematology]]'' 16 Weeks || bgcolor="#488ED3"|Normal
 
|-
| Peripheral blood leukocytes 16 Weeks || bgcolor="#488ED3"|Normal
 
|-
| Heart weight || bgcolor="#488ED3"|Normal
 
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal
 
|-
| Cytotoxic T Cell Function || bgcolor="#488ED3"|Normal
 
|-
| Spleen Immunophenotyping || bgcolor="#488ED3"|Normal
 
|-
| Mesenteric Lymph Node Immunophenotyping || bgcolor="#488ED3"|Normal
 
|-
| Bone Marrow Immunophenotyping || bgcolor="#488ED3"|Normal
 
|-
| Epidermal Immune Composition || bgcolor="#488ED3"|Normal
 
|-
| Trichuris Challenge || bgcolor="#488ED3"|Normal
 
|-
|}
 
{{Clear}}
 
== References ==
{{reflist|30em}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Le Coniat M, Soulard M, Della Valle V, Larsen CJ, Berger R | title = Localization of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein G (hnRNP-G) to chromosome 6p12 | journal = Human Genetics | volume = 88 | issue = 5 | pages = 593–5 | date = Mar 1992 | pmid = 1551662 | doi = 10.1007/bf00219352 }}
| citations =
* {{cite journal | vauthors = Soulard M, Della Valle V, Siomi MC, Piñol-Roma S, Codogno P, Bauvy C, Bellini M, Lacroix JC, Monod G, Dreyfuss G | title = hnRNP G: sequence and characterization of a glycosylated RNA-binding protein | journal = Nucleic Acids Research | volume = 21 | issue = 18 | pages = 4210–7 | date = Sep 1993 | pmid = 7692398 | pmc = 310052 | doi = 10.1093/nar/21.18.4210 }}
*{{cite journal | author=Le Coniat M, Soulard M, Della Valle V, ''et al.'' |title=Localization of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein G (hnRNP-G) to chromosome 6p12. |journal=Hum. Genet. |volume=88 |issue= 5 |pages= 593-5 |year= 1992 |pmid= 1551662 |doi= }}
* {{cite journal | vauthors = Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M | title = Generation and analysis of 280,000 human expressed sequence tags | journal = Genome Research | volume = 6 | issue = 9 | pages = 807–28 | date = Sep 1996 | pmid = 8889549 | doi = 10.1101/gr.6.9.807 }}
*{{cite journal | author=Soulard M, Della Valle V, Siomi MC, ''et al.'' |title=hnRNP G: sequence and characterization of a glycosylated RNA-binding protein. |journal=Nucleic Acids Res. |volume=21 |issue= 18 |pages= 4210-7 |year= 1993 |pmid= 7692398 |doi= }}
* {{cite journal | vauthors = Venables JP, Vernet C, Chew SL, Elliott DJ, Cowmeadow RB, Wu J, Cooke HJ, Artzt K, Eperon IC | title = T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 959–69 | date = Jun 1999 | pmid = 10332027 | doi = 10.1093/hmg/8.6.959 }}
*{{cite journal | author=Hillier LD, Lennon G, Becker M, ''et al.'' |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807-28 |year= 1997 |pmid= 8889549 |doi= }}
* {{cite journal | vauthors = Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ, Eperon IC | title = RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing | journal = Human Molecular Genetics | volume = 9 | issue = 5 | pages = 685–94 | date = Mar 2000 | pmid = 10749975 | doi = 10.1093/hmg/9.5.685 }}
*{{cite journal | author=Venables JP, Vernet C, Chew SL, ''et al.'' |title=T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis. |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 959-69 |year= 1999 |pmid= 10332027 |doi=  }}
* {{cite journal | vauthors = Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI | title = Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry | journal = The EMBO Journal | volume = 19 | issue = 23 | pages = 6569–81 | date = Dec 2000 | pmid = 11101529 | pmc = 305846 | doi = 10.1093/emboj/19.23.6569 }}
*{{cite journal  | author=Delbridge ML, Lingenfelter PA, Disteche CM, Graves JA |title=The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 223-4 |year= 1999 |pmid= 10391206 |doi= 10.1038/10279 }}
* {{cite journal | vauthors = Lingenfelter PA, Delbridge ML, Thomas S, Hoekstra HE, Mitchell MJ, Graves JA, Disteche CM | title = Expression and conservation of processed copies of the RBMX gene | journal = Mammalian Genome | volume = 12 | issue = 7 | pages = 538–45 | date = Jul 2001 | pmid = 11420617 | doi = 10.1007/s00335001-0003-z | citeseerx = 10.1.1.721.2504 }}
*{{cite journal  | author=Mazeyrat S, Saut N, Mattei MG, Mitchell MJ |title=RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical gene. |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 224-6 |year= 1999 |pmid= 10391207 |doi= 10.1038/10282 }}
* {{cite journal | vauthors = Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ | title = Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis | journal = RNA | volume = 8 | issue = 4 | pages = 426–39 | date = Apr 2002 | pmid = 11991638 | pmc = 1370266 | doi = 10.1017/S1355838202021088 }}
*{{cite journal | author=Venables JP, Elliott DJ, Makarova OV, ''et al.'' |title=RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. |journal=Hum. Mol. Genet. |volume=9 |issue= 5 |pages= 685-94 |year= 2000 |pmid= 10749975 |doi= }}
* {{cite journal | vauthors = Hofmann Y, Wirth B | title = hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1 | journal = Human Molecular Genetics | volume = 11 | issue = 17 | pages = 2037–49 | date = Aug 2002 | pmid = 12165565 | doi = 10.1093/hmg/11.17.2037 }}
*{{cite journal | author=Ajuh P, Kuster B, Panov K, ''et al.'' |title=Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry. |journal=EMBO J. |volume=19 |issue= 23 |pages= 6569-81 |year= 2001 |pmid= 11101529 |doi= 10.1093/emboj/19.23.6569 }}
* {{cite journal | vauthors = Angenstein F, Evans AM, Settlage RE, Moran ST, Ling SC, Klintsova AY, Shabanowitz J, Hunt DF, Greenough WT | title = A receptor for activated C kinase is part of messenger ribonucleoprotein complexes associated with polyA-mRNAs in neurons | journal = The Journal of Neuroscience | volume = 22 | issue = 20 | pages = 8827–37 | date = Oct 2002 | pmid = 12388589 | doi =  }}
*{{cite journal | author=Lingenfelter PA, Delbridge ML, Thomas S, ''et al.'' |title=Expression and conservation of processed copies of the RBMX gene. |journal=Mamm. Genome |volume=12 |issue= 7 |pages= 538-45 |year= 2001 |pmid= 11420617 |doi= }}
* {{cite journal | vauthors = Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ, Patton JG | title = Regulation of alternative splicing by SRrp86 and its interacting proteins | journal = Molecular and Cellular Biology | volume = 23 | issue = 21 | pages = 7437–47 | date = Nov 2003 | pmid = 14559993 | pmc = 207616 | doi = 10.1128/MCB.23.21.7437-7447.2003 }}
*{{cite journal | author=Jurica MS, Licklider LJ, Gygi SR, ''et al.'' |title=Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. |journal=RNA |volume=8 |issue= 4 |pages= 426-39 |year= 2002 |pmid= 11991638 |doi= }}
* {{cite journal | vauthors = Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC | title = Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry | journal = Analytical Chemistry | volume = 76 | issue = 10 | pages = 2763–72 | date = May 2004 | pmid = 15144186 | doi = 10.1021/ac035352d }}
*{{cite journal | author=Hofmann Y, Wirth B |title=hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. |journal=Hum. Mol. Genet. |volume=11 |issue= 17 |pages= 2037-49 |year= 2003 |pmid= 12165565 |doi= }}
* {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = Aug 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 }}
*{{cite journal | author=Angenstein F, Evans AM, Settlage RE, ''et al.'' |title=A receptor for activated C kinase is part of messenger ribonucleoprotein complexes associated with polyA-mRNAs in neurons. |journal=J. Neurosci. |volume=22 |issue= 20 |pages= 8827-37 |year= 2002 |pmid= 12388589 |doi=  }}
* {{cite journal | vauthors = Ong SE, Mittler G, Mann M | title = Identifying and quantifying in vivo methylation sites by heavy methyl SILAC | journal = Nature Methods | volume = 1 | issue = 2 | pages = 119–26 | date = Nov 2004 | pmid = 15782174 | doi = 10.1038/nmeth715 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Li J, Hawkins IC, Harvey CD, ''et al.'' |title=Regulation of alternative splicing by SRrp86 and its interacting proteins. |journal=Mol. Cell. Biol. |volume=23 |issue= 21 |pages= 7437-47 |year= 2003 |pmid= 14559993 |doi= }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Brill LM, Salomon AR, Ficarro SB, ''et al.'' |title=Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. |journal=Anal. Chem. |volume=76 |issue= 10 |pages= 2763-72 |year= 2004 |pmid= 15144186 |doi= 10.1021/ac035352d }}
*{{cite journal | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal  | author=Ong SE, Mittler G, Mann M |title=Identifying and quantifying in vivo methylation sites by heavy methyl SILAC. |journal=Nat. Methods |volume=1 |issue= 2 |pages= 119-26 |year= 2005 |pmid= 15782174 |doi= 10.1038/nmeth715 }}
}}
{{refend}}
{{refend}}
{{protein-stub}}
{{WikiDoc Sources}}

Latest revision as of 22:47, 5 September 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Heterogeneous nuclear ribonucleoprotein G is a protein that in humans is encoded by the RBMX gene.[1][2][3]

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.[3]

Interactions

RBMX has been shown to interact with SFRS10[4] and CDC5L.[5]

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.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: RBMX RNA binding motif protein, X-linked".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 7.0 7.1 "International Mouse Phenotyping Consortium".
  8. ↑ 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.
  9. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 12.0 12.1 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

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