• Gene id: 112849

Gene Summary

• Gene Symbol: L3HYPDH   Gene   UCSC   Ensembl
• Aliases: C14orf149
• Gene name: trans-L-3-hydroxyproline dehydratase
• Alternate names: trans-3-hydroxy-L-proline dehydratase, L-3-hydroxyproline dehydratase (trans-), trans-3-hydroxy-l-proline dehydratase, trans-3-hydroxyl-L-proline dehydratase,
• Gene location: 14q23.1 (59505265: 59472605)     Exons: 6     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as co
• OMIM: 614811

Protein Summary

• Protein general information: Q96EM0  
  • Name: Trans 3 hydroxy L proline dehydratase (EC 4.2.1.77) (Trans L 3 hydroxyproline dehydratase)
  • Length: 354  
  • Mass: 38138
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MESALAVPRLPPHDPGTPVLSVVDMHTGGEPLRIVLAGCPEVSGPTLLAKRRYMRQHLDHVRRRLMFEPRGHRDM
  YGAVLVPSELPDAHLGVLFLHNEGYSSMCGHAVLALGRFALDFGLVPAPPAGTREARVNIHCPCGLVTAFVACED
  GRSHGPVRFHSVPAFVLATDLMVDVPGHGKVMVDIAYGGAFYAFVTAEKLGLDICSAKTRDLVDAASAVTEAVKA
  QFKINHPDSEDLAFLYGTILTDGKDAYTKEPTTNICVFADEQVDRSPTGSGVTARIALQYHKGLLELNQMRAFKS
  SATGSVFTGKAVREAKCGDFKAVIVEVSGQAHYTGTASFIIEDDDPLRDGFLLK

• Structural information:
  • Interpro: IPR008794  
  • STRING: ENSP00000247194
• Other Databases: GeneCards:  L3HYPDH  Malacards:  L3HYPDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0018112	proline racemase activity	IDA	NOT|molecular function
GO:0016836	hydro-lyase activity	IDA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0050346	trans-L-3-hydroxyproline dehydratase activity	IEA	molecular function
GO:0016836	hydro-lyase activity	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
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)