• Gene id: 8896

Gene Summary

• Gene Symbol: BUD31   Gene   UCSC   Ensembl
• Aliases: Cwc14, EDG-2, EDG2, G10, YCR063W, fSAP17
• Gene name: BUD31 homolog
• Alternate names: protein BUD31 homolog, G10 maternal transcript homolog, functional spliceosome-associated protein 17, maternal G10 transcript, protein EDG-2, protein G10 homolog,
• Gene location: 7q22.1 (108091666: 108154670)     Exons: 14     NC_000023.11
• OMIM: 603477

Protein Summary

• Protein general information: P41223  
  • Name: Protein BUD31 homolog (Protein EDG 2) (Protein G10 homolog)
  • Length: 144  
  • Mass: 17000
  • Tissue specificity: Detected in epithelial and stromal cells in benign prostate hyperplasia tissue (at protein level). {ECO
• Sequence:

  MPKVKRSRKAPPDGWELIEPTLDELDQKMREAETEPHEGKRKVESLWPIFRIHHQKTRYIFDLFYKRKAISRELY
  EYCIKEGYADKNLIAKWKKQGYENLCCLRCIQTRDTNFGTNCICRVPKSKLEVGRIIECTHCGCRGCSG

• Structural information:
  • Interpro: IPR018230  IPR001748  
  • Prosite: PS00997 PS00998
  • PDB: 4OED 4OH6 4OKB 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • PDBsum: 4OED 4OH6 4OKB 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • STRING: ENSP00000386023
• Other Databases: GeneCards:  BUD31  Malacards:  BUD31

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:2000825	positive regulation of androgen receptor activity	IDA	biological process
GO:0035257	nuclear hormone receptor binding	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	colocalizes with
GO:0030374	nuclear receptor transcription coactivator activity	IDA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
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: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:0005634	nucleus	IEA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq