• Gene id: 5725

Gene Summary

• Gene Symbol: PTBP1   Gene   UCSC   Ensembl
• Aliases: HNRNP-I, HNRNPI, HNRPI, PTB, PTB-1, PTB-T, PTB2, PTB3, PTB4, pPTB
• Gene name: polypyrimidine tract binding protein 1
• Alternate names: polypyrimidine tract-binding protein 1, 57 kDa RNA-binding protein PPTB-1, RNA-binding protein, heterogeneous nuclear ribonucleoprotein I, heterogeneous nuclear ribonucleoprotein polypeptide I, hnRNP I, polypyrimidine tract binding protein (heterogeneous nuclea,
• Gene location: 19p13.3 (797451: 812315)     Exons: 16     NC_000004.12
• Gene summary(Entrez): This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in th
• OMIM: 600693

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Alzheimer's disease	GAD: 19141999
Spermatogenesis defects	MIK: 30416150
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Regulates spermatogonia proliferation	MIK: 30416150
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30416150	Regulates spermatogonia proliferation				Male infertility
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray