• Gene id: 10189

Gene Summary

• Gene Symbol: ALYREF   Gene   UCSC   Ensembl
• Aliases: ALY, ALY/REF, BEF, REF, THOC4
• Gene name: Aly/REF export factor
• Alternate names: THO complex subunit 4, THO complex 4, ally of AML-1 and LEF-1, bZIP enhancing factor, bZIP-enhancing factor BEF, tho4, transcriptional coactivator Aly/REF,
• Gene location: 17q25.3 (81891586: 81887834)     Exons: 3     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSe
• OMIM: 604171

Protein Summary

• Protein general information: Q86V81  
  • Name: THO complex subunit 4 (Tho4) (Ally of AML 1 and LEF 1) (Aly/REF export factor) (Transcriptional coactivator Aly/REF) (bZIP enhancing factor BEF)
  • Length: 257  
  • Mass: 26888
  • Tissue specificity: Expressed in a wide variety of cancer types. {ECO
• Sequence:

  MADKMDMSLDDIIKLNRSQRGGRGGGRGRGRAGSQGGRGGGAQAAARVNRGGGPIRNRPAIARGAAGGGGRNRPA
  PYSRPKQLPDKWQHDLFDSGFGGGAGVETGGKLLVSNLDFGVSDADIQELFAEFGTLKKAAVHYDRSGRSLGTAD
  VHFERKADALKAMKQYNGVPLDGRPMNIQLVTSQIDAQRRPAQSVNRGGMTRNRGAGGFGGGGGTRRGTRGGARG
  RGRGAGRNSKQQLSAEELDAQLDAYNARMDTS

• Structural information:
  • Protein Domains: (106..18-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR025715  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • PDB: 3ULH
  • PDBsum: 3ULH
  • DIP: 32711
  • STRING: ENSP00000421592
• Other Databases: GeneCards:  ALYREF  Malacards:  ALYREF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0046784	viral mRNA export from host cell nucleus	IDA	biological process
GO:0035145	exon-exon junction complex	IDA	colocalizes with
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0006405	RNA export from nucleus	IDA	biological process
GO:0000346	transcription export complex	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0062153	C5-methylcytidine-containing RNA binding	IDA	molecular function
GO:0032786	positive regulation of DNA-templated transcription, elongation	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0000018	regulation of DNA recombination	IMP	biological process
GO:0006406	mRNA export from nucleus	IMP	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:0006406	mRNA export from nucleus	IMP	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	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: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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0006405	RNA export from nucleus	TAS	biological process
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:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa03013	RNA transport
hsa03040	Spliceosome
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R