• Gene id: 10907

Gene Summary

• Gene Symbol: TXNL4A   Gene   UCSC   Ensembl
• Aliases: BMKS, DIB1, DIM1, SNRNP15, TXNL4, U5-15kD
• Gene name: thioredoxin like 4A
• Alternate names: thioredoxin-like protein 4A, DIM1 protein homolog, spliceosomal U5 snRNP-specific 15 kDa protein, thioredoxin-like 4, thioredoxin-like U5 snRNP protein U5-15kD,
• Gene location: 18q23 (80033935: 79970812)     Exons: 7     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein int
• OMIM: 611595

Protein Summary

• Protein general information: P83876  
  • Name: Thioredoxin like protein 4A (DIM1 protein homolog) (Spliceosomal U5 snRNP specific 15 kDa protein) (Thioredoxin like U5 snRNP protein U5 15kD)
  • Length: 142  
  • Mass: 16786
• Sequence:

  MSYMLPHLHNGWQVDQAILSEEDRVVVIRFGHDWDPTCMKMDEVLYSIAEKVKNFAVIYLVDITEVPDFNKMYEL
  YDPCTVMFFFRNKHIMIDLGTGNNNKINWAMEDKQEMVDIIETVYRGARKGRGLVVSPKDYSTKYRY

• Structural information:
  • Interpro: IPR004123  IPR036249  
  • CDD: cd02954
  • PDB: 1PQN 1QGV 1SYX 3JCR 4BWQ 4BWS 4CDO 5O9Z 6AH0 6AHD 6QW6 6QX9
  • PDBsum: 1PQN 1QGV 1SYX 3JCR 4BWQ 4BWS 4CDO 5O9Z 6AH0 6AHD 6QW6 6QX9
  • STRING: ENSP00000269601
• Other Databases: GeneCards:  TXNL4A  Malacards:  TXNL4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005682	U5 snRNP	IBA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0046540	U4/U6 x U5 tri-snRNP complex	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000398	mRNA splicing, via spliceosome	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: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:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000245	spliceosomal complex assembly	TAS	biological process
GO:0005681	spliceosomal complex	TAS	cellular component
GO:0000375	RNA splicing, via transesterification reactions	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Burn-McKeown syndrome	KEGG:H01839
Burn-McKeown syndrome	KEGG:H01839
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray