• Gene id: 84844

Gene Summary

• Gene Symbol: PHF5A   Gene   UCSC   Ensembl
• Aliases: INI, Rds3, SAP14b, SF3B7, SF3b14b, bK223H9.2
• Gene name: PHD finger protein 5A
• Alternate names: PHD finger-like domain-containing protein 5A, PHD finger-like domain protein 5A, PHD-finger 5a, splicing factor 3B associated 14 kDa protein, splicing factor 3b, subunit 7,
• Gene location: 22q13.2 (85112507: 85098357)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m
• OMIM: 617846

Protein Summary

• Protein general information: Q7RTV0  
  • Name: PHD finger like domain containing protein 5A (PHD finger like domain protein 5A) (Splicing factor 3B associated 14 kDa protein) (SF3b14b)
  • Length: 110  
  • Mass: 12405
• Sequence:

  MAKHHPDLIFCRKQAGVAIGRLCEKCDGKCVICDSYVRPCTLVRICDECNYGSYQGRCVICGGPGVSDAYYCKEC
  TIQEKDRDGCPKIVNLGSSKTDLFYERKKYGFKKR

• Structural information:
  • Interpro: IPR005345  
  • PDB: 5IFE 5O9Z 5SYB 5Z56 5Z57 5Z58 5ZYA 6AH0 6EN4 6FF4 6FF7 6QX9
  • PDBsum: 5IFE 5O9Z 5SYB 5Z56 5Z57 5Z58 5ZYA 6AH0 6EN4 6FF4 6FF7 6QX9
  • STRING: ENSP00000216252
• Other Databases: GeneCards:  PHF5A  Malacards:  PHF5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005689	U12-type spliceosomal complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071011	precatalytic spliceosome	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016607	nuclear speck	ISS	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	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:0005654	nucleoplasm	TAS	cellular component
GO:0048863	stem cell differentiation	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005686	U2 snRNP	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881