• Gene id: 8563

Gene Summary

• Gene Symbol: THOC5   Gene   UCSC   Ensembl
• Aliases: C22orf19, Fmip, PK1.3, fSAP79
• Gene name: THO complex 5
• Alternate names: THO complex subunit 5 homolog, Fms-interacting protein, NF2/meningioma region protein pK1.3, PP39.2, functional spliceosome-associated protein 79, hTREX90, placental protein 39.2,
• Gene location: 22q12.2 (29553759: 29505878)     Exons: 23     NC_000022.11
• OMIM: 0

Protein Summary

• Protein general information: Q13769  
  • Name: THO complex subunit 5 homolog (Functional spliceosome associated protein 79) (fSAP79) (NF2/meningioma region protein pK1.3) (Placental protein 39.2) (PP39.2) (hTREX90)
  • Length: 683  
  • Mass: 78508
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MSSESSKKRKPKVIRSDGAPAEGKRNRSDTEQEGKYYSEEAEVDLRDPGRDYELYKYTCQELQRLMAEIQDLKSR
  GGKDVAIEIEERRIQSCVHFMTLKKLNRLAHIRLKKGRDQTHEAKQKVDAYHLQLQNLLYEVMHLQKEITKCLEF
  KSKHEEIDLVSLEEFYKEAPPDISKAEVTMGDPHQQTLARLDWELEQRKRLAEKYRECLSNKEKILKEIEVKKEY
  LSSLQPRLNSIMQASLPVQEYLFMPFDQAHKQYETARHLPPPLYVLFVQATAYGQACDKTLSVAIEGSVDEAKAL
  FKPPEDSQDDESDSDAEEEQTTKRRRPTLGVQLDDKRKEMLKRHPLSVMLDLKCKDDSVLHLTFYYLMNLNIMTV
  KAKVTTAMELITPISAGDLLSPDSVLSCLYPGDHGKKTPNPANQYQFDKVGILTLSDYVLELGHPYLWVQKLGGL
  HFPKEQPQQTVIADHSLSASHMETTMKLLKTRVQSRLALHKQFASLEHGIVPVTSDCQYLFPAKVVSRLVKWVTV
  AHEDYMELHFTKDIVDAGLAGDTNLYYMALIERGTAKLQAAVVLNPGYSSIPPVFQLCLNWKGEKTNSNDDNIRA
  MEGEVNVCYKELCGPWPSHQLLTNQLQRLCVLLDVYLETESHDDSVEGPKEFPQEKMCLRLFRGPSRMKPFKYNH
  PQGFFSHR

• Structural information:
  • Interpro: IPR019163  
  • STRING: ENSP00000420306
• Other Databases: GeneCards:  THOC5  Malacards:  THOC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032786	positive regulation of DNA-templated transcription, elongation	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0000445	THO complex part of transcription export complex	IBA	cellular component
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0046784	viral mRNA export from host cell nucleus	IDA	biological process
GO:0000445	THO complex part of transcription export complex	IDA	cellular component
GO:0000347	THO complex	IDA	cellular component
GO:0030224	monocyte differentiation	IDA	biological process
GO:0006406	mRNA export from nucleus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:2000002	negative regulation of DNA damage checkpoint	IMP	biological process
GO:0060215	primitive hemopoiesis	ISS	biological process
GO:0032786	positive regulation of DNA-templated transcription, elongation	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:0051028	mRNA transport	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0006406	mRNA export from nucleus	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:0006405	RNA export from nucleus	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:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Breast carcinoma	PMID:16959974
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