• Gene id: 9939

Gene Summary

• Gene Symbol: RBM8A   Gene   UCSC   Ensembl
• Aliases: BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1
• Gene name: RNA binding motif protein 8A
• Alternate names: RNA-binding protein 8A, BOV-1, RNA binding motif protein 8B, RNA-binding protein Y14, binder of OVCA1, binder of OVCA1-1, ribonucleoprotein RBM8, ribonucleoprotein RBM8A,
• Gene location: 1q21.1 (145927483: 145921555)     Exons: 6     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 605313

Protein Summary

• Protein general information: Q9Y5S9  
  • Name: RNA binding protein 8A (Binder of OVCA1 1) (BOV 1) (RNA binding motif protein 8A) (RNA binding protein Y14) (Ribonucleoprotein RBM8A)
  • Length: 174  
  • Mass: 19889
  • Tissue specificity: Ubiquitous.
• Sequence:

  MADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQDGDEPGPQRSVEGWIL
  FVTGVHEEATEEDIHDKFAEYGEIKNIHLNLDRRTGYLKGYTLVEYETYKEAQAAMEGLNGQDLMGQPISVDWCF
  VRGPPKGKRRGGRRRSRSPDRRRR

• Structural information:
  • Protein Domains: (73..15-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR008111  IPR000504  IPR033744  
  • Prosite: PS50102
  • CDD: cd12324
  • PDB: 1P27 2HYI 2J0Q 2J0S 2XB2 3EX7 5XJC 5YZG 6ICZ 6QDV
  • PDBsum: 1P27 2HYI 2J0Q 2J0S 2XB2 3EX7 5XJC 5YZG 6ICZ 6QDV
  • DIP: 33070
  • STRING: ENSP00000463058
• Other Databases: GeneCards:  RBM8A  Malacards:  RBM8A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035145	exon-exon junction complex	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0071006	U2-type catalytic step 1 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IMP	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0006396	RNA processing	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003723	RNA binding	NAS	molecular function
GO:0003729	mRNA binding	NAS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005737	cytoplasm	NAS	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03040	Spliceosome
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Thrombocytopenia-absent radius syndrome	KEGG:H01847
Thrombocytopenia-absent radius syndrome	KEGG:H01847
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)