• Gene id: 23042

Gene Summary

• Gene Symbol: PDXDC1   Gene   UCSC   Ensembl
• Aliases: LP8165
• Gene name: pyridoxal dependent decarboxylase domain containing 1
• Alternate names: pyridoxal-dependent decarboxylase domain-containing protein 1,
• Gene location: 16p13.11 (14974590: 15153342)     Exons: 31     NC_000016.10
• OMIM: 614244

Protein Summary

• Protein general information: Q6P996  
  • Name: Pyridoxal dependent decarboxylase domain containing protein 1 (EC 4.1.1. )
  • Length: 788  
  • Mass: 86707
• Sequence:

  MDASLEKIADPTLAEMGKNLKEAVKMLEDSQRRTEEENGKKLISGDIPGPLQGSGQDMVSILQLVQNLMHGDEDE
  EPQSPRIQNIGEQGHMALLGHSLGAYISTLDKEKLRKLTTRILSDTTLWLCRIFRYENGCAYFHEEEREGLAKIC
  RLAIHSRYEDFVVDGFNVLYNKKPVIYLSAAARPGLGQYLCNQLGLPFPCLCRVPCNTVFGSQHQMDVAFLEKLI
  KDDIERGRLPLLLVANAGTAAVGHTDKIGRLKELCEQYGIWLHVEGVNLATLALGYVSSSVLAAAKCDSMTMTPG
  PWLGLPAVPAVTLYKHDDPALTLVAGLTSNKPTDKLRALPLWLSLQYLGLDGFVERIKHACQLSQRLQESLKKVN
  YIKILVEDELSSPVVVFRFFQELPGSDPVFKAVPVPNMTPSGVGRERHSCDALNRWLGEQLKQLVPASGLTVMDL
  EAEGTCLRFSPLMTAAVLGTRGEDVDQLVACIESKLPVLCCTLQLREEFKQEVEATAGLLYVDDPNWSGIGVVRY
  EHANDDKSSLKSDPEGENIHAGLLKKLNELESDLTFKIGPEYKSMKSCLYVGMASDNVDAAELVETIAATAREIE
  ENSRLLENMTEVVRKGIQEAQVELQKASEERLLEEGVLRQIPVVGSVLNWFSPVQALQKGRTFNLTAGSLESTEP
  IYVYKAQGAGVTLPPTPSGSRTKQRLPGQKPFKRSLRGSDALSETSSVSHIEDLEKVERLSSGPEQITLEASSTE
  GHPGAPSPQHTDQTEAFQKGVPHPEDDHSQVEGPESLR

• Structural information:
  • Interpro: IPR002129  IPR015424  IPR015421  
  • STRING: ENSP00000379691
• Other Databases: GeneCards:  PDXDC1  Malacards:  PDXDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030149	sphingolipid catabolic process	IBA	biological process
GO:0008117	sphinganine-1-phosphate aldolase activity	IBA	molecular function
GO:0006665	sphingolipid metabolic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0001667	ameboidal-type cell migration	IBA	biological process
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray