• Gene id: 9904

Gene Summary

• Gene Symbol: RBM19   Gene   UCSC   Ensembl
• Aliases: Mrd1
• Gene name: RNA binding motif protein 19
• Alternate names: probable RNA-binding protein 19,
• Gene location: 12q24.13-q24.21 (113966370: 113816739)     Exons: 27     NC_000012.12
• Gene summary(Entrez): This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq
• OMIM: 611319

Protein Summary

• Protein general information: Q9Y4C8  
  • Name: Probable RNA binding protein 19 (RNA binding motif protein 19)
  • Length: 960  
  • Mass: 107332
  • Tissue specificity: Expressed in the crypts of Lieberkuhn of the intestine and in intestinal neoplasia (at protein level). {ECO
• Sequence:

  MSRLIVKNLPNGMKEERFRQLFAAFGTLTDCSLKFTKDGKFRKFGFIGFKSEEEAQKAQKHFNKSFIDTSRITVE
  FCKSFGDPAKPRAWSKHAQKPSQPKQPPKDSTTPEIKKDEKKKKVAGQLEKLKEDTEFQEFLSVHQRRAQAATWA
  NDGLDAEPSKGKSKPASDYLNFDSDSGQESEEEGAGEDLEEEASLEPKAAVQKELSDMDYLKSKMVKAGSSSSSE
  EEESEDEAVHCDEGSEAEEEDSSATPVLQERDSKGAGQEQGMPAGKKRPPEARAETEKPANQKEPTTCHTVKLRG
  APFNVTEKNVMEFLAPLKPVAIRIVRNAHGNKTGYIFVDFSNEEEVKQALKCNREYMGGRYIEVFREKNVPTTKG
  APKNTTKSWQGRILGENEEEEDLAESGRLFVRNLPYTSTEEDLEKLFSKYGPLSELHYPIDSLTKKPKGFAFITF
  MFPEHAVKAYSEVDGQVFQGRMLHVLPSTIKKEASEDASALGSSSYKKKKEAQDKANSASSHNWNTLFMGPNAVA
  DAIAQKYNATKSQVFDHETKGSVAVRVALGETQLVQEVRRFLIDNGVSLDSFSQAAAERSKTVILVKNLPAGTLA
  AQLQETFGHFGSLGRVLLPEGGITAIVEFLEPLEARKAFRHLAYSKFHHVPLYLEWAPVGVFSSTAPQKKKLQDT
  PSEPMEKDPAEPETVPDGETPEDENPTEEGADNSSAKMEEEEEEEEEEEESLPGCTLFIKNLNFDTTEEKLKEVF
  SKVGTVKSCSISKKKNKAGVLLSMGFGFVEYRKPEQAQKALKQLQGHVVDGHKLEVRISERATKPAVTLARKKQV
  PRKQTTSKILVRNIPFQAHSREIRELFSTFGELKTVRLPKKMTGTGTHRGFGFVDFLTKQDAKRAFNALCHSTHL
  YGRRLVLEWADSEVTLQALRRKTAAHFHEPPKKKRSVVLDEILEQLEGSDSDSEEQTLQL

• Structural information:
  • Protein Domains: (2..7-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (294..36-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (402..48-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (-)
  • Interpro: IPR012677  IPR035979  IPR034419  IPR034420  IPR034423   IPR034421  IPR034418  IPR034417  IPR000504  IPR003954  
  • Prosite: PS50102
  • CDD: cd12564 cd12502 cd12567 cd12569 cd12318 cd12571
  • PDB: 2DGW
  • PDBsum: 2DGW
  • STRING: ENSP00000442053
• Other Databases: GeneCards:  RBM19  Malacards:  RBM19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016607	nuclear speck	IBA	cellular component
GO:0045292	mRNA cis splicing, via spliceosome	IBA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0040019	positive regulation of embryonic development	ISS	biological process
GO:0005730	nucleolus	ISS	cellular component
GO:0005654	nucleoplasm	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0040019	positive regulation of embryonic development	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016607	nuclear speck	IBA	cellular component
GO:0045292	mRNA cis splicing, via spliceosome	IBA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0040019	positive regulation of embryonic development	ISS	biological process
GO:0005730	nucleolus	ISS	cellular component
GO:0005654	nucleoplasm	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0040019	positive regulation of embryonic development	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray