• Gene id: 26207

Gene Summary

• Gene Symbol: PITPNC1   Gene   UCSC   Ensembl
• Aliases: M-RDGB-beta, MRDGBbeta, RDGB-BETA, RDGBB, RDGBB1
• Gene name: phosphatidylinositol transfer protein cytoplasmic 1
• Alternate names: cytoplasmic phosphatidylinositol transfer protein 1, M-rdgB beta, mammalian rdgB homolog beta, retinal degeneration B beta 1, retinal degeneration B homolog beta,
• Gene location: 17q24.2 (67377280: 67697255)     Exons: 13     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between m
• OMIM: 605134

Protein Summary

• Protein general information: Q9UKF7  
  • Name: Cytoplasmic phosphatidylinositol transfer protein 1 (Mammalian rdgB homolog beta) (M rdgB beta) (MrdgBbeta) (Retinal degeneration B homolog beta) (RdgBbeta)
  • Length: 332  
  • Mass: 38388
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MLLKEYRICMPLTVDEYKIGQLYMISKHSHEQSDRGEGVEVVQNEPFEDPHHGNGQFTEKRVYLNSKLPSWARAV
  VPKIFYVTEKAWNYYPYTITEYTCSFLPKFSIHIETKYEDNKGSNDTIFDNEAKDVEREVCFIDIACDEIPERYY
  KESEDPKHFKSEKTGRGQLREGWRDSHQPIMCSYKLVTVKFEVWGLQTRVEQFVHKVVRDILLIGHRQAFAWVDE
  WYDMTMDEVREFERATQEATNKKIGIFPPAISISSIPLLPSSVRSAPSSAPSTPLSTDAPEFLSVPKDRPRKKSA
  PETLTLPDPEKKATLNLPGMHSSDKPCRPKSE

• Structural information:
  • Interpro: IPR001666  IPR023393  
  • STRING: ENSP00000464006
• Other Databases: GeneCards:  PITPNC1  Malacards:  PITPNC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0008526	phosphatidylinositol transfer activity	IBA	molecular function
GO:0005548	phospholipid transporter activity	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
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:0008525	phosphatidylcholine transporter activity	IDA	NOT|molecular function
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:1901611	phosphatidylglycerol binding	IDA	molecular function
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0015914	phospholipid transport	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0008526	phosphatidylinositol transfer activity	IMP	molecular function
GO:0007165	signal transduction	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray